| Year |
Citation |
Score |
| 2023 |
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, ... ... Brunner HG, et al. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations. Journal of Medical Genetics. PMID 37580113 DOI: 10.1136/jmg-2022-109030 |
0.385 |
|
| 2022 |
Wiel L, Hampstead JE, Venselaar H, Vissers LELM, Brunner HG, Pfundt R, Vriend G, Veltman JA, Gilissen C. De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders. American Journal of Human Genetics. 110: 92-104. PMID 36563679 DOI: 10.1016/j.ajhg.2022.12.001 |
0.317 |
|
| 2022 |
Antony D, Gulec Yilmaz E, Gezdirici A, Slagter L, Bakey Z, Bornaun H, Tanidir IC, Van Dinh T, Brunner HG, Walentek P, Arnold SJ, Backofen R, Schmidts M. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases. Frontiers in Genetics. 13: 861236. PMID 35547246 DOI: 10.3389/fgene.2022.861236 |
0.341 |
|
| 2022 |
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, ... ... Brunner HG, et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation. PMID 35344616 DOI: 10.1002/humu.24375 |
0.361 |
|
| 2021 |
Stevens SJC, Stumpel CTRM, Diderich KEM, van Slegtenhorst MA, Abbott MA, Manning C, Balciuniene J, Pyle LC, Leonard J, Murrell JR, van de Putte R, van Rooij IALM, Hoischen A, Lasko P, Brunner HG. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Clinical Genetics. PMID 34671974 DOI: 10.1111/cge.14076 |
0.36 |
|
| 2021 |
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. American Journal of Human Genetics. PMID 33513338 DOI: 10.1016/j.ajhg.2021.01.007 |
0.318 |
|
| 2020 |
van der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, ... ... Brunner HG, et al. Presence of Genetic Variants Among Young Men With Severe COVID-19. Jama. PMID 32706371 DOI: 10.1001/Jama.2020.13719 |
0.326 |
|
| 2020 |
van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, ... ... Brunner HG, et al. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in Pediatrics. 8: 310. PMID 32656166 DOI: 10.3389/fped.2020.00310 |
0.349 |
|
| 2020 |
Klein M, Singgih EL, van Rens A, Demontis D, Børglum AD, Mota NR, Castells-Nobau A, Kiemeney LA, Brunner HG, Arias-Vasquez A, Schenck A, van der Voet M, Franke B. Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in . The American Journal of Psychiatry. appiajp201918050599. PMID 32046534 DOI: 10.1176/Appi.Ajp.2019.18050599 |
0.311 |
|
| 2019 |
Verdonschot JAJ, Robinson EL, James KN, Mohamed MW, Claes GRF, Casas K, Vanhoutte EK, Hazebroek MR, Kringlen G, Pasierb MM, van den Wijngaard A, Glatz JFC, Heymans SRB, Krapels IPC, Nahas S, ... Brunner HG, et al. Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers. Molecular Genetics & Genomic Medicine. e1049. PMID 31880413 DOI: 10.1002/mgg3.1049 |
0.327 |
|
| 2019 |
van Rooij IA, Ludwig KU, Welzenbach J, Ishorst N, Thonissen M, Galesloot TE, Ongkosuwito E, Bergé SJ, Aldhorae K, Rojas-Martinez A, Kiemeney LA, Vermeesch JR, Brunner H, Roeleveld N, Devriendt K, et al. Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports as a Clefting Susceptibility Gene. Genes. 10. PMID 31817908 DOI: 10.3390/genes10121023 |
0.318 |
|
| 2019 |
Satizabal CL, Adams HHH, Hibar DP, White CC, Knol MJ, Stein JL, Scholz M, Sargurupremraj M, Jahanshad N, Roshchupkin GV, Smith AV, Bis JC, Jian X, Luciano M, Hofer E, ... ... Brunner HG, et al. Genetic architecture of subcortical brain structures in 38,851 individuals. Nature Genetics. PMID 31636452 DOI: 10.1038/S41588-019-0511-Y |
0.338 |
|
| 2019 |
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, ... ... Brunner HG, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8 |
0.317 |
|
| 2019 |
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, ... ... Brunner HG, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics. PMID 31031012 DOI: 10.1016/J.Ajhg.2019.03.022 |
0.311 |
|
| 2018 |
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Brunner HG, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619. PMID 30397230 DOI: 10.1038/S41467-018-06014-6 |
0.324 |
|
| 2018 |
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, ... ... Brunner HG, et al. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 29861108 DOI: 10.1016/j.ajhg.2018.04.014 |
0.34 |
|
| 2018 |
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, ... ... Brunner HG, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics. PMID 29740699 DOI: 10.1007/S00439-018-1887-Y |
0.345 |
|
| 2018 |
Stevens SJ, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AM, Stockler-Ipsiroglu SG, Lehman A, Brunner HG. De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with non-syndromic intellectual disability. Human Mutation. PMID 29688601 DOI: 10.1002/humu.23541 |
0.309 |
|
| 2018 |
Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, ... ... Brunner HG, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 102: 196. PMID 29304375 DOI: 10.1016/J.Ajhg.2017.12.016 |
0.37 |
|
| 2017 |
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, ... ... Brunner HG, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics. PMID 29276006 DOI: 10.1016/J.Ajhg.2017.10.002 |
0.313 |
|
| 2017 |
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, ... ... Brunner HG, et al. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics : Ejhg. PMID 29209020 DOI: 10.1038/S41431-017-0039-5 |
0.374 |
|
| 2017 |
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, ... ... Brunner HG, et al. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Journal of Medical Genetics. PMID 29074562 DOI: 10.1136/jmedgenet-2017-104748 |
0.335 |
|
| 2017 |
Lelieveld SH, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman JA, Brunner HG, Vissers LELM, Gilissen C. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. American Journal of Human Genetics. PMID 28867141 DOI: 10.1016/j.ajhg.2017.08.004 |
0.341 |
|
| 2017 |
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, ... ... Brunner HG, et al. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics. 100: 907-925. PMID 28575647 DOI: 10.1016/j.ajhg.2017.05.006 |
0.309 |
|
| 2017 |
Ghofrani M, Yahyaei M, Brunner HG, Cremers FP, Movasat M, Imran Khan M, Keramatipour M. Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families Iranian Biomedical Journal. PMID 28460491 DOI: 10.18869/Acadpub.Ibj.21.5.294 |
0.555 |
|
| 2017 |
Vulto-van Silfhout AT, Gilissen C, Goeman JJ, Jansen S, van Amen-Hellebrekers CJ, van Bon BW, Koolen DA, Sistermans EA, Brunner HG, de Brouwer AP, de Vries BB. Quantification of Phenotype Information Aids the Identification of Novel Disease genes. Human Mutation. PMID 28074630 DOI: 10.1002/humu.23176 |
0.363 |
|
| 2016 |
Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Genome Medicine. 8: 131. PMID 27964749 DOI: 10.1186/S13073-016-0386-9 |
0.446 |
|
| 2016 |
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, et al. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics. PMID 27569549 DOI: 10.1016/J.Ajhg.2016.06.032 |
0.31 |
|
| 2016 |
Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, ... ... Brunner HG, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience. PMID 27479843 DOI: 10.1038/Nn.4352 |
0.342 |
|
| 2016 |
Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, ... Brunner HG, et al. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. European Journal of Human Genetics : Ejhg. PMID 27406248 DOI: 10.1038/ejhg.2016.91 |
0.338 |
|
| 2016 |
Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, ... ... Brunner HG, et al. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nature Genetics. PMID 27399968 DOI: 10.1038/Ng.3619 |
0.311 |
|
| 2016 |
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, ... ... Brunner H, et al. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. American Journal of Human Genetics. 99: 174-87. PMID 27392076 DOI: 10.1016/J.Ajhg.2016.05.028 |
0.399 |
|
| 2016 |
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IA, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, Roa Fuentes L, van de Vorst M, Henkes A, ... ... Brunner HG, et al. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26963285 DOI: 10.1038/Gim.2016.10 |
0.444 |
|
| 2016 |
Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics. 98: 541-552. PMID 26942287 DOI: 10.1016/J.Ajhg.2016.02.004 |
0.309 |
|
| 2016 |
White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, ... Brunner HG, et al. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. American Journal of Human Genetics. PMID 26924530 DOI: 10.1016/J.Ajhg.2016.01.005 |
0.353 |
|
| 2016 |
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, ... ... Brunner HG, et al. Clinical delineation of the PACS1-related Syndrome-Report on 19 Patients. American Journal of Medical Genetics. Part A. PMID 26842493 DOI: 10.1002/Ajmg.A.37476 |
0.382 |
|
| 2016 |
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, ... ... Brunner HG, et al. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journal of Human Genetics. PMID 26833328 DOI: 10.1016/J.Ajhg.2015.12.015 |
0.33 |
|
| 2015 |
Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, ... ... Brunner HG, et al. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. American Journal of Human Genetics. 97: 904-13. PMID 26637980 DOI: 10.1016/J.Ajhg.2015.11.006 |
0.467 |
|
| 2015 |
Sie AS, Spruijt L, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N. High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling. Journal of Genetic Counseling. PMID 26531312 DOI: 10.1007/S10897-015-9899-4 |
0.33 |
|
| 2015 |
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, ... ... Brunner HG, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics : Ejhg. PMID 26306646 DOI: 10.1038/ejhg.2015.178 |
0.34 |
|
| 2015 |
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, ... ... Brunner H, et al. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. American Journal of Human Genetics. PMID 26235985 DOI: 10.1016/J.Ajhg.2015.07.004 |
0.322 |
|
| 2015 |
Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, ... ... Brunner HG, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American Journal of Human Genetics. PMID 26119818 DOI: 10.1016/j.ajhg.2015.05.017 |
0.378 |
|
| 2015 |
Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, ... ... Brunner H, et al. De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nature Communications. 6: 7199. PMID 26068067 DOI: 10.1038/Ncomms8199 |
0.391 |
|
| 2015 |
White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, ... ... Brunner HG, et al. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. American Journal of Human Genetics. 96: 612-22. PMID 25817016 DOI: 10.1016/J.Ajhg.2015.02.015 |
0.384 |
|
| 2015 |
Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. European Journal of Human Genetics : Ejhg. PMID 25735484 DOI: 10.1038/Ejhg.2015.30 |
0.443 |
|
| 2015 |
Tylki-Szyma?ska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Ró?d?y?ska-?wi?tkowska A, Hoischen A, Chrzanowska KH. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). Journal of Medical Genetics. 52: 312-6. PMID 25670821 DOI: 10.1136/Jmedgenet-2014-102936 |
0.316 |
|
| 2015 |
Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, ... ... Brunner HG, et al. Variants in CUL4B are associated with cerebral malformations. Human Mutation. 36: 106-17. PMID 25385192 DOI: 10.1002/Humu.22718 |
0.532 |
|
| 2015 |
van de Putte R, Wijers CH, de Blaauw I, Feitz WF, Marcelis CL, Hakobjan M, Sloots CE, van Bever Y, Brunner HG, Roeleveld N, van Rooij IA, van der Zanden LF. Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias. European Journal of Pediatrics. 174: 583-7. PMID 25319845 DOI: 10.1007/S00431-014-2436-X |
0.413 |
|
| 2015 |
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics : Ejhg. 23: 292-301. PMID 25052316 DOI: 10.1038/Ejhg.2014.95 |
0.461 |
|
| 2015 |
Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, et al. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. European Journal of Human Genetics : Ejhg. 23: 317-24. PMID 24939586 DOI: 10.1038/Ejhg.2014.115 |
0.347 |
|
| 2015 |
Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G, Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clinical Genetics. 87: 34-41. PMID 24716670 DOI: 10.1111/Cge.12401 |
0.477 |
|
| 2015 |
Vulto-van Silfhout A, Rajamanickam S, Jensik P, Vergult S, de Rocker N, Newhall K, Raghavan R, Reardon S, Jarrett K, McIntyre T, Bulinski J, Ownby S, Huggenvik J, McKnight G, Rose G, ... ... Brunner H, et al. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems The American Journal of Human Genetics. 96: 178. DOI: 10.1016/J.Ajhg.2014.12.019 |
0.336 |
|
| 2014 |
Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N. Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review. Birth Defects Research. Part C, Embryo Today : Reviews. 102: 382-400. PMID 25546370 DOI: 10.1002/Bdrc.21068 |
0.389 |
|
| 2014 |
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics : Ejhg. PMID 25424714 DOI: 10.1038/Ejhg.2014.253 |
0.427 |
|
| 2014 |
Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A, Hoogman M, Arias-Vásquez A, Yang Y, Buitelaar J, Fernández G, Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, et al. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Genes, Brain, and Behavior. 13: 675-85. PMID 25130324 DOI: 10.1111/Gbb.12157 |
0.325 |
|
| 2014 |
Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, ... ... Brunner HG, et al. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics. 94: 649-61. PMID 24726472 DOI: 10.1016/J.Ajhg.2014.03.013 |
0.407 |
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| 2014 |
Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH. Early presentation of cystic kidneys in a family with a homozygous INVS mutation. American Journal of Medical Genetics. Part A. 164: 1627-34. PMID 24677454 DOI: 10.1002/Ajmg.A.36501 |
0.438 |
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| 2014 |
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics. 23: 2888-900. PMID 24403048 DOI: 10.1093/Hmg/Ddu002 |
0.484 |
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| 2014 |
Smigiel R, Marcelis C, Patkowski D, de Leeuw N, Bednarczyk D, Barg E, Mascianica K, Maria Sasiadek M, Brunner H. Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12. European Journal of Medical Genetics. 57: 40-3. PMID 24239950 DOI: 10.1016/J.Ejmg.2013.10.007 |
0.431 |
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| 2014 |
de Munnik SA, García-Miñaúr S, Hoischen A, van Bon BW, Boycott KM, Schoots J, Hoefsloot LH, Knoers NV, Bongers EM, Brunner HG. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. European Journal of Human Genetics : Ejhg. 22: 844-6. PMID 24193349 DOI: 10.1038/ejhg.2013.249 |
0.396 |
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| 2014 |
Sie AS, van Zelst-Stams WA, Spruijt L, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Familial Cancer. 13: 143-51. PMID 24068317 DOI: 10.1007/S10689-013-9686-Z |
0.367 |
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| 2014 |
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, ... ... Brunner H, et al. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. European Journal of Human Genetics : Ejhg. 22: 888-95. PMID 23963297 DOI: 10.1038/Ejhg.2013.154 |
0.429 |
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| 2013 |
Venselaar H, Camilli F, Gholizadeh S, Snelleman M, Brunner HG, Vriend G. Status quo of annotation of human disease variants. Bmc Bioinformatics. 14: 352. PMID 24305467 DOI: 10.1186/1471-2105-14-352 |
0.34 |
|
| 2013 |
Oortveld MA, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, Kochinke K, Castells-Nobau A, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner HG, Zweier C, et al. Human intellectual disability genes form conserved functional modules in Drosophila. Plos Genetics. 9: e1003911. PMID 24204314 DOI: 10.1371/Journal.Pgen.1003911 |
0.405 |
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| 2013 |
Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, ... ... Brunner HG, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. Journal of Medical Genetics. 50: 802-11. PMID 24123876 DOI: 10.1136/Jmedgenet-2013-101644 |
0.497 |
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| 2013 |
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, ... ... Brunner HG, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Human Mutation. 34: 1721-6. PMID 24123792 DOI: 10.1002/Humu.22450 |
0.57 |
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| 2013 |
Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, Thoonen IJ, de Brouwer AP, Brunner HG, Webber C, Pfundt R, de Leeuw N, de Vries BB. Clinical significance of de novo and inherited copy-number variation. Human Mutation. 34: 1679-87. PMID 24038936 DOI: 10.1002/Humu.22442 |
0.421 |
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| 2013 |
Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, ... ... Brunner HG, et al. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet Journal of Rare Diseases. 8: 110. PMID 23879989 DOI: 10.1186/1750-1172-8-110 |
0.486 |
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| 2013 |
Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, et al. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Journal of Medical Genetics. 50: 507-14. PMID 23644463 DOI: 10.1136/Jmedgenet-2012-101490 |
0.377 |
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| 2013 |
Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, ... ... Brunner H, et al. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases. 8: 63. PMID 23621943 DOI: 10.1186/1750-1172-8-63 |
0.439 |
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| 2013 |
Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, P?istoupilová A, Hoda?ová K, Sovová J, H?lková H, Piherová L, Hehir-Kwa JY, de Silva D, ... ... Brunner HG, et al. Mutations in ANTXR1 cause GAPO syndrome. American Journal of Human Genetics. 92: 792-9. PMID 23602711 DOI: 10.1016/J.Ajhg.2013.03.023 |
0.425 |
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| 2013 |
Stiff T, Alagoz M, Alcantara D, Outwin E, Brunner HG, Bongers EM, O'Driscoll M, Jeggo PA. Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. Plos Genetics. 9: e1003360. PMID 23516378 DOI: 10.1371/Journal.Pgen.1003360 |
0.381 |
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| 2013 |
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, ... Brunner HG, et al. Mutations in MED12 cause X-linked Ohdo syndrome. American Journal of Human Genetics. 92: 401-6. PMID 23395478 DOI: 10.1016/J.Ajhg.2013.01.007 |
0.46 |
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| 2013 |
Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, ... ... Brunner HG, et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics. 22: 1654-62. PMID 23335590 DOI: 10.1093/Hmg/Ddt015 |
0.436 |
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| 2013 |
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, ... ... Brunner HG, et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clinical Genetics. 84: 539-45. PMID 23320472 DOI: 10.1111/Cge.12081 |
0.471 |
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| 2012 |
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, ... ... Brunner HG, et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. American Journal of Human Genetics. 91: 1073-81. PMID 23176823 DOI: 10.1016/J.Ajhg.2012.10.017 |
0.417 |
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| 2012 |
Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. American Journal of Human Genetics. 91: 1122-7. PMID 23159249 DOI: 10.1016/j.ajhg.2012.10.013 |
0.342 |
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| 2012 |
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, et al. Diagnostic exome sequencing in persons with severe intellectual disability. The New England Journal of Medicine. 367: 1921-9. PMID 23033978 DOI: 10.1056/NEJMoa1206524 |
0.394 |
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| 2012 |
Vulto-van Silfhout AT, de Brouwer AF, de Leeuw N, Obihara CC, Brunner HG, de Vries BB. A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome. Molecular Syndromology. 2: 245-250. PMID 22822384 DOI: 10.1159/000336191 |
0.337 |
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| 2012 |
Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nature Reviews. Genetics. 13: 565-75. PMID 22805709 DOI: 10.1038/nrg3241 |
0.3 |
|
| 2012 |
Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, ... ... Brunner HG, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nature Genetics. 44: 922-7. PMID 22772368 DOI: 10.1038/Ng.2349 |
0.364 |
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| 2012 |
Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, ... ... Brunner HG, et al. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. American Journal of Human Genetics. 91: 73-82. PMID 22726846 DOI: 10.1016/J.Ajhg.2012.05.003 |
0.424 |
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| 2012 |
van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, ... ... Brunner HG, et al. Cantú syndrome is caused by mutations in ABCC9. American Journal of Human Genetics. 90: 1094-101. PMID 22608503 DOI: 10.1016/J.Ajhg.2012.04.014 |
0.465 |
|
| 2012 |
Sie AS, Spruijt L, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N. DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct. Bmc Women's Health. 12: 12. PMID 22569005 DOI: 10.1186/1472-6874-12-12 |
0.301 |
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| 2012 |
Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, ... ... Brunner HG, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nature Genetics. 44: 639-41. PMID 22544363 DOI: 10.1038/Ng.2262 |
0.437 |
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| 2012 |
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics. 44: 581-5. PMID 22522421 DOI: 10.1038/Ng.2253 |
0.45 |
|
| 2012 |
Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, ... ... Brunner HG, et al. Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics. 44: 552-61. PMID 22504417 DOI: 10.1038/Ng.2250 |
0.305 |
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| 2012 |
Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. Journal of Medical Genetics. 49: 179-83. PMID 22368300 DOI: 10.1136/Jmedgenet-2011-100542 |
0.426 |
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| 2012 |
Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, ... ... Brunner HG, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/Ng.1091 |
0.502 |
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| 2012 |
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, ... ... Brunner HG, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. European Journal of Human Genetics : Ejhg. 20: 598-606. PMID 22333897 DOI: 10.1038/ejhg.2011.269 |
0.355 |
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| 2012 |
Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE. Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). American Journal of Medical Genetics. Part A. 158: 553-8. PMID 22315194 DOI: 10.1002/Ajmg.A.35202 |
0.411 |
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| 2012 |
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, et al. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. American Journal of Human Genetics. 90: 290-4. PMID 22265017 DOI: 10.1016/J.Ajhg.2011.11.024 |
0.43 |
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| 2012 |
Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strategies for exome sequencing. European Journal of Human Genetics : Ejhg. 20: 490-7. PMID 22258526 DOI: 10.1038/Ejhg.2011.258 |
0.381 |
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| 2012 |
Conceição Pereira M, Loureiro JL, Pinto-Basto J, Brandão E, Margarida Lopes A, Neves G, Dias P, Geraldes R, Martins IP, Cruz VT, Kamsteeg EJ, Brunner HG, Coutinho P, Sequeiros J, Alonso I. Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 143-51. PMID 22237444 DOI: 10.1038/Gim.2011.7 |
0.506 |
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| 2012 |
Verhoeven VMA, Egger JIM, Brunner HG. W01-04 - Psychopathology in rare genetic disorders European Psychiatry. 27: 1. DOI: 10.1016/S0924-9338(12)75671-7 |
0.363 |
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| 2011 |
Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. American Journal of Human Genetics. 89: 813-9. PMID 22152683 DOI: 10.1016/J.Ajhg.2011.11.008 |
0.478 |
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| 2011 |
Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, et al. Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). American Journal of Medical Genetics. Part A. 155: 2609-16. PMID 22025298 DOI: 10.1002/Ajmg.A.34325 |
0.403 |
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| 2011 |
Marcelis C, de Blaauw I, Brunner H. Chromosomal anomalies in the etiology of anorectal malformations: A review American Journal of Medical Genetics, Part A. 155: 2692-2704. PMID 21990113 DOI: 10.1002/Ajmg.A.34253 |
0.397 |
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| 2011 |
Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. Plos One. 6: e24925. PMID 21931868 DOI: 10.1371/Journal.Pone.0024925 |
0.311 |
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| 2011 |
Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biology. 12: 228. PMID 21920049 DOI: 10.1186/Gb-2011-12-9-228 |
0.323 |
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| 2011 |
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, ... ... Brunner HG, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: 97-102. PMID 21881559 DOI: 10.1038/Nature10406 |
0.363 |
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| 2011 |
Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, ... ... Brunner HG, et al. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. Plos Genetics. 7: e1002114. PMID 21750680 DOI: 10.1371/Journal.Pgen.1002114 |
0.465 |
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| 2011 |
Bralten J, Arias-Vásquez A, Makkinje R, Veltman JA, Brunner HG, Fernández G, Rijpkema M, Franke B. Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults. The American Journal of Psychiatry. 168: 1083-9. PMID 21730226 DOI: 10.1176/Appi.Ajp.2011.10101509 |
0.317 |
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| 2011 |
Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C. Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. European Journal of Human Genetics : Ejhg. 19: 1152-60. PMID 21712853 DOI: 10.1038/Ejhg.2011.120 |
0.34 |
|
| 2011 |
Hoischen A, van Bon BW, RodrÃguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, ... ... Brunner HG, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics. 43: 729-31. PMID 21706002 DOI: 10.1038/Ng.868 |
0.482 |
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| 2011 |
Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafé L, Veltman JA, et al. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. American Journal of Human Genetics. 88: 608-15. PMID 21549340 DOI: 10.1016/J.Ajhg.2011.04.002 |
0.416 |
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| 2011 |
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Journal of Medical Genetics. 48: 390-5. PMID 21378380 DOI: 10.1136/Jmg.2011.088864 |
0.457 |
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| 2011 |
Verhoeven W, Egger J, Brunner H, de Leeuw N. A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder. American Journal of Medical Genetics. Part A. 155: 392-7. PMID 21271660 DOI: 10.1002/Ajmg.A.33802 |
0.391 |
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| 2011 |
van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, ... ... Brunner HG, et al. The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics : Ejhg. 19: 400-8. PMID 21248748 DOI: 10.1038/Ejhg.2010.211 |
0.41 |
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| 2011 |
Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB. Homozygosity mapping in outbred families with mental retardation. European Journal of Human Genetics : Ejhg. 19: 597-601. PMID 21248743 DOI: 10.1038/Ejhg.2010.167 |
0.416 |
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| 2011 |
Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clinical Genetics. 80: 31-8. PMID 21204793 DOI: 10.1111/J.1399-0004.2010.01607.X |
0.432 |
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| 2011 |
Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, ... ... Brunner HG, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics. 43: 23-6. PMID 21131973 DOI: 10.1038/Ng.725 |
0.33 |
|
| 2011 |
Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mornet E, Brun-Heath I, Squarcioni CP, Cole DEC, Siminovitch K, Hwang PA, Burnham WM, Munnich A, Brunner H. 13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion Clinical Neurophysiology. 122. DOI: 10.1016/J.Clinph.2010.03.047 |
0.368 |
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| 2010 |
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nature Genetics. 42: 1109-12. PMID 21076407 DOI: 10.1038/ng.712 |
0.354 |
|
| 2010 |
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. American Journal of Human Genetics. 87: 418-23. PMID 20817137 DOI: 10.1016/j.ajhg.2010.08.004 |
0.37 |
|
| 2010 |
Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, ... Brunner HG, et al. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. Plos Genetics. 6: e1001065. PMID 20808887 DOI: 10.1371/Journal.Pgen.1001065 |
0.394 |
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| 2010 |
Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, ... ... Brunner HG, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics. 42: 827-9. PMID 20802478 DOI: 10.1038/Ng.653 |
0.456 |
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| 2010 |
Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation. 31: E1587-93. PMID 20648631 DOI: 10.1002/Humu.21298 |
0.491 |
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| 2010 |
Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research. 20: 1271-8. PMID 20631049 DOI: 10.1101/Gr.108597.110 |
0.359 |
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| 2010 |
Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, ... ... Brunner HG, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics. 42: 483-5. PMID 20436468 DOI: 10.1038/ng.581 |
0.343 |
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| 2010 |
Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP, Veltman JA. Accurate distinction of pathogenic from benign CNVs in mental retardation. Plos Computational Biology. 6: e1000752. PMID 20421931 DOI: 10.1371/Journal.Pcbi.1000752 |
0.332 |
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| 2010 |
Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA. A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Clinical Genetics. 78: 275-81. PMID 20236121 DOI: 10.1111/J.1399-0004.2010.01384.X |
0.472 |
|
| 2010 |
Veltman JA, Brunner HG. Understanding variable expressivity in microdeletion syndromes. Nature Genetics. 42: 192-3. PMID 20179732 DOI: 10.1038/Ng0310-192 |
0.377 |
|
| 2010 |
Mazzeu JF, Vianna-Morgante AM, Krepischi AC, Oudakker A, Rosenberg C, Szuhai K, McGill J, Maccraughan J, van Bokhoven H, Brunner HG. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. Clinical Genetics. 77: 404-7. PMID 20095987 DOI: 10.1111/J.1399-0004.2009.01355.X |
0.358 |
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| 2010 |
Verhoeven WM, Tuinier S, Kuijpers HJ, Egger JI, Brunner HG. Psychiatric profile in rubinstein-taybi syndrome. A review and case report. Psychopathology. 43: 63-8. PMID 19940543 DOI: 10.1159/000260045 |
0.346 |
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| 2010 |
Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 239: 327-37. PMID 19918918 DOI: 10.1002/Dvdy.22156 |
0.477 |
|
| 2010 |
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, ... ... Brunner HG, et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics : Ejhg. 18: 163-70. PMID 19809484 DOI: 10.1038/Ejhg.2009.152 |
0.45 |
|
| 2010 |
Jongmans MC, Pfundt R, Hehir-Kwa JY, Brunner HG, Kerstjens-Frederikse WS. Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? Clinical Dysmorphology. 19: 30-2. PMID 19730370 DOI: 10.1097/Mcd.0B013E32832D0650 |
0.306 |
|
| 2010 |
Bon BWMv, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Bernardina BD, Zoccante L, Balottin U, Piazza F, ... ... Brunner HG, et al. Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype European Journal of Human Genetics. 18: 1171-1171. DOI: 10.1038/Ejhg.2010.103 |
0.341 |
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| 2010 |
Bon BWMV, Koolen DA, Brueton L, Mcmullan D, Lichtenbelt KD, Ades LC, Peters G, Gibson K, Novara F, Pramparo T, Bernardina BD, Zoccante L, Balottin U, Piazza F, Pecile V, ... ... Brunner HG, et al. Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype European Journal of Human Genetics. 18: 170-170. DOI: 10.1038/Ejhg.2009.200 |
0.381 |
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| 2010 |
Verhoeven W, Leeuw ND, Egger J, Brunner H. PW01-165 - Identification of a de novo 22q11.2 distal deletion in an adult female referred for an anxiety disorder European Psychiatry. 25: 1583. DOI: 10.1016/S0924-9338(10)71564-9 |
0.408 |
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| 2009 |
Oti M, Huynen MA, Brunner HG. The biological coherence of human phenome databases. American Journal of Human Genetics. 85: 801-8. PMID 20004759 DOI: 10.1016/J.Ajhg.2009.10.026 |
0.324 |
|
| 2009 |
Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, et al. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Human Molecular Genetics. 18: 3579-93. PMID 19578123 DOI: 10.1093/Hmg/Ddp306 |
0.318 |
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| 2009 |
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, ... ... Brunner HG, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics. 46: 511-23. PMID 19372089 DOI: 10.1136/Jmg.2008.063412 |
0.438 |
|
| 2009 |
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, ... ... Brunner HG, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 46: 389-98. PMID 19346217 DOI: 10.1136/Jmg.2008.063818 |
0.481 |
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| 2009 |
Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, ... ... Brunner HG, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics. 46: 598-606. PMID 19264732 DOI: 10.1136/Jmg.2008.062950 |
0.524 |
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| 2009 |
Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, Van Bokhoven H, Brunner HG, Lupski JR. Dominant versus recessive traits conveyed by allelic mutations - To what extent is nonsense-mediated decay involved? Clinical Genetics. 75: 394-400. PMID 19236432 DOI: 10.1111/J.1399-0004.2008.01114.X |
0.452 |
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| 2009 |
Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nature Genetics. 41: 112-7. PMID 19098912 DOI: 10.1038/Ng.283 |
0.48 |
|
| 2009 |
Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Human Mutation. 30: 283-92. PMID 19085936 DOI: 10.1002/Humu.20883 |
0.324 |
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| 2009 |
Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clinical Genetics. 75: 65-71. PMID 19021638 DOI: 10.1111/J.1399-0004.2008.01107.X |
0.43 |
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| 2009 |
Kets CM, Hoogerbrugge N, van Krieken JH, Goossens M, Brunner HG, Ligtenberg MJ. Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. European Journal of Human Genetics : Ejhg. 17: 159-64. PMID 18781192 DOI: 10.1038/Ejhg.2008.153 |
0.421 |
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| 2009 |
Thompson MD, Nezarati MM, Mabry CC, Deardorff MA, Gillessen-Kaesbach G, Meinecke P, Squarcioni CP, Legeai-Mallet L, Munnich A, Siminovitch K, Marcelis CL, Brunner HG, Hwang PA, Cole DEC. 7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features Clinical Neurophysiology. 120. DOI: 10.1016/J.Clinph.2009.05.027 |
0.304 |
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| 2008 |
Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, Veltman JA. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. American Journal of Human Genetics. 83: 504-10. PMID 18940311 DOI: 10.1016/J.Ajhg.2008.09.011 |
0.326 |
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| 2008 |
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, ... ... Brunner HG, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics. 45: 710-20. PMID 18628315 DOI: 10.1136/Jmg.2008.058701 |
0.459 |
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| 2008 |
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Abdulla F, Abramowicz M, Amy S, Schafer I, Bankier A, White S, Barcina MG, Bartoshesky LE, Jenny K, ... ... Brunner HG, et al. Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients Human Mutation. 29: 1237-1246. PMID 18546297 DOI: 10.1002/Humu.20792 |
0.379 |
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| 2008 |
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Human Mutation. 29: 1125-32. PMID 18470948 DOI: 10.1002/Humu.20750 |
0.508 |
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| 2008 |
Oti M, van Reeuwijk J, Huynen MA, Brunner HG. Conserved co-expression for candidate disease gene prioritization. Bmc Bioinformatics. 9: 208. PMID 18433471 DOI: 10.1186/1471-2105-9-208 |
0.318 |
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| 2008 |
Rinne T, Clements SE, Lamme E, Duijf PHG, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, Mcgrath JA, Schalkwijk J, Brunner HG, Zhou H, Van Bokhoven H. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes Human Molecular Genetics. 17: 1968-1977. PMID 18364388 DOI: 10.1093/Hmg/Ddn094 |
0.43 |
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| 2008 |
van der Hout AH, Oudesluijs GG, Venema A, Verheij JBGM, Mol BGJ, Rump P, Brunner HG, Vos YJ, van Essen AJ. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia European Journal of Human Genetics. 16: 673-679. PMID 18231121 DOI: 10.1038/Sj.Ejhg.5202012 |
0.484 |
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| 2008 |
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, ... ... Brunner HG, et al. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. American Journal of Human Genetics. 82: 125-38. PMID 18179891 DOI: 10.1016/J.Ajhg.2007.09.008 |
0.649 |
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| 2008 |
Van Bon BWM, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, Van Duyvenvoorde HA, Aalbers AM, ... ... Brunner HG, et al. Clinical and molecular characteristics of 1qter microdeletion syndrome: Delineating a critical region for corpus callosum agenesis/hypogenesis Journal of Medical Genetics. 45: 346-354. PMID 18178631 DOI: 10.1136/Jmg.2007.055830 |
0.463 |
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| 2008 |
Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (New York, N.Y.). 319: 816-9. PMID 18174396 DOI: 10.1126/Science.1151174 |
0.49 |
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| 2008 |
Kornak U, Reynders E, Dimopoulou A, Van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Dobyns WB, Quelhas D, Vilarinho L, Leao-Teles E, Greally M, Seemanova E, ... ... Brunner HG, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nature Genetics. 40: 32-34. PMID 18157129 DOI: 10.1038/Ng.2007.45 |
0.388 |
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| 2008 |
Jongmans MCJ, Hoefsloot LH, Van Der Donk KP, Admiraal RJ, Magee A, Van De Laar I, Hendriks Y, Verheij JBGM, Walpole I, Brunner HG, Van Ravenswaaij CMA. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability American Journal of Medical Genetics, Part A. 146: 43-50. PMID 18074359 DOI: 10.1002/Ajmg.A.31921 |
0.436 |
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| 2008 |
Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation European Journal of Human Genetics. 16: 28-35. PMID 17971833 DOI: 10.1038/Sj.Ejhg.5201947 |
0.411 |
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| 2008 |
Kets CM, Van Krieken JHJM, Van Erp PEJ, Feuth T, Jacobs YHA, Brunner HG, Ligtenberg MJL, Hoogerbrugge N. Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome? International Journal of Cancer. 122: 796-801. PMID 17957798 DOI: 10.1002/Ijc.23121 |
0.337 |
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| 2008 |
de Kovel CG, Franke B, Hol FA, Lebrec JJ, Maassen B, Brunner H, Padberg GW, Platko J, Pauls D. Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 294-300. PMID 17886254 DOI: 10.1002/Ajmg.B.30598 |
0.339 |
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| 2008 |
Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, van Kessel AG, Wijmenga C, et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Molecular Psychiatry. 13: 261-6. PMID 17646849 DOI: 10.1038/Sj.Mp.4002049 |
0.373 |
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| 2007 |
Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, et al. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. American Journal of Medical Genetics. Part A. 143: 2382-9. PMID 17853461 DOI: 10.1002/Ajmg.A.31937 |
0.453 |
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| 2007 |
Ruiter EM, Koolen DA, Nillesen WM, Pfundt R, de Leeuw N, Hamel BCJ, Brunner HG, Siistermans EA, de Vries BBA. Pure subtelomeric microduplications as a cause of mental retardation Clinical Genetics. 72: 362-368. PMID 17850634 DOI: 10.1111/J.1399-0004.2007.00874.X |
0.365 |
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| 2007 |
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, ... ... Brunner HG, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. American Journal of Human Genetics. 81: 713-25. PMID 17846997 DOI: 10.1086/521373 |
0.469 |
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| 2007 |
Feenstra I, Vissers LELM, Orsel M, Van Kessel AG, Brunner HG, Veltman JA, Van Ravenswaaij-Arts CMA. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map American Journal of Medical Genetics, Part A. 143: 1858-1867. PMID 17632778 DOI: 10.1002/Ajmg.A.31850 |
0.385 |
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| 2007 |
Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature Genetics. 39: 882-8. PMID 17558407 DOI: 10.1038/Ng2069 |
0.607 |
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| 2007 |
Overbeek LI, Kets CM, Hebeda KM, Bodmer D, van der Looij E, Willems R, Goossens M, Arts N, Brunner HG, van Krieken JH, Hoogerbrugge N, Ligtenberg MJ. Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. British Journal of Cancer. 96: 1605-12. PMID 17453009 DOI: 10.1038/Sj.Bjc.6603754 |
0.458 |
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| 2007 |
van Reeuwijk J, Grewal PK, Salih MAM, Beltrán-Valero de Bernabé D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome Human Genetics. 121: 685-690. PMID 17436019 DOI: 10.1007/S00439-007-0362-Y |
0.488 |
|
| 2007 |
Collin RWJ, Kalay E, Oostrik J, Çaylan R, Wollnik B, Arslan S, Den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CWRJ, Brunner HG, Cremers FPM, et al. Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment Human Mutation. 28: 718-723. PMID 17373699 DOI: 10.1002/Humu.20510 |
0.479 |
|
| 2007 |
Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, et al. Characterization of a recurrent 15q24 microdeletion syndrome. Human Molecular Genetics. 16: 567-72. PMID 17360722 DOI: 10.1093/Hmg/Ddm016 |
0.437 |
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| 2007 |
Marcelis CL, Rieu P, Beemer F, Brunner HG. Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings Clinical Dysmorphology. 16: 73-76. PMID 17351347 DOI: 10.1097/Mcd.0B013E3280147130 |
0.4 |
|
| 2007 |
Rinne T, Brunner HG, Van Bokhoven H. p63-associated disorders Cell Cycle. 6: 262-268. PMID 17224651 |
0.361 |
|
| 2007 |
Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RWJ, Heister JGAM, Oostrik J, Cremers CWRJ, Brunner HG, Karaguzel A, Kremer H. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4 Journal of Molecular Medicine. 85: 397-404. PMID 17211611 DOI: 10.1007/S00109-006-0136-3 |
0.454 |
|
| 2006 |
Feenstra I, Brunner HG, Van Ravenswaaij CMA. Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage Cytogenetic and Genome Research. 115: 231-239. PMID 17124405 DOI: 10.1159/000095919 |
0.313 |
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| 2006 |
Kets CM, Van Krieken JHJM, Hebeda KM, Wezenberg SJ, Goossens M, Brunner HG, Ligtenberg MJL, Hoogerbrugge N. Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability British Journal of Cancer. 95: 1678-1682. PMID 17117178 DOI: 10.1038/Sj.Bjc.6603478 |
0.389 |
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| 2006 |
Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JAJM, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes European Journal of Human Genetics. 14: 1306-1312. PMID 16912702 DOI: 10.1038/Sj.Ejhg.5201706 |
0.459 |
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| 2006 |
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. American Journal of Human Genetics. 79: 556-61. PMID 16909394 DOI: 10.1086/507318 |
0.646 |
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| 2006 |
Koolen DA, Vissers LELM, Pfundt R, De Leeuw N, Knight SJL, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, ... ... Brunner HG, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nature Genetics. 38: 999-1001. PMID 16906164 DOI: 10.1038/Ng1853 |
0.399 |
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| 2006 |
Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M. A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: Are atrial fibrillation and syncopes part of the phenotype? European Journal of Human Genetics. 14: 1313-1316. PMID 16896344 DOI: 10.1038/Sj.Ejhg.5201702 |
0.453 |
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| 2006 |
Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BBA. Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. Journal of Human Genetics. 51: 721-726. PMID 16865294 DOI: 10.1007/s10038-006-0010-8 |
0.315 |
|
| 2006 |
Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature Genetics. 38: 917-20. PMID 16845398 DOI: 10.1038/Ng1845 |
0.43 |
|
| 2006 |
Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. American Journal of Human Genetics. 79: 390-5. PMID 16826531 DOI: 10.1086/506256 |
0.456 |
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| 2006 |
Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, Van Esch H, Fryns JP, Hamel BCJ, Sistermans EA, De Vries BBA, Van Bokhoven H. Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome American Journal of Human Genetics. 79: 370-377. PMID 16826528 DOI: 10.1086/505693 |
0.493 |
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| 2006 |
Tiffin N, Adie E, Turner F, Brunner HG, van Driel MA, Oti M, Lopez-Bigas N, Ouzounis C, Perez-Iratxeta C, Andrade-Navarro MA, Adeyemo A, Patti ME, Semple CA, Hide W. Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Research. 34: 3067-81. PMID 16757574 DOI: 10.1093/Nar/Gkl381 |
0.334 |
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| 2006 |
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, ... ... Brunner HG, et al. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Human Mutation. 27: 633-9. PMID 16752389 DOI: 10.1002/Humu.20368 |
0.649 |
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| 2006 |
Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huoponen K, Savontaus ML, Aaltonen M, Duijf P, Brunner HG, Penttinen M, van Bokhoven H. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene European Journal of Human Genetics. 14: 904-910. PMID 16724007 DOI: 10.1038/Sj.Ejhg.5201640 |
0.451 |
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| 2006 |
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. American Journal of Medical Genetics. Part A. 140: 1285-96. PMID 16700052 DOI: 10.1002/Ajmg.A.31270 |
0.415 |
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| 2006 |
Rinne T, Hamel B, Van Bokhoven H, Brunner HG. Pattern of p63 mutations and their phenotypes - Update American Journal of Medical Genetics, Part A. 140: 1396-1406. PMID 16691622 DOI: 10.1002/Ajmg.A.31271 |
0.473 |
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| 2006 |
Twigg SRF, Matsumoto K, Kidd AMJ, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJM, Mathijssen IMJ, Lourenço MT, Morton JEV, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, et al. The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males American Journal of Human Genetics. 78: 999-1010. PMID 16685650 DOI: 10.1086/504440 |
0.443 |
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| 2006 |
Oti M, Snel B, Huynen MA, Brunner HG. Predicting disease genes using protein-protein interactions. Journal of Medical Genetics. 43: 691-8. PMID 16611749 DOI: 10.1136/Jmg.2006.041376 |
0.362 |
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| 2006 |
Van Reeuwijk J, Maugenre S, Van Den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, Van Bokhoven H. The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation Human Mutation. 27: 453-459. PMID 16575835 DOI: 10.1002/Humu.20313 |
0.432 |
|
| 2006 |
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, et al. Mutations in different components of FGF signaling in LADD syndrome. Nature Genetics. 38: 414-7. PMID 16501574 DOI: 10.1038/Ng1757 |
0.436 |
|
| 2006 |
van Driel MA, Bruggeman J, Vriend G, Brunner HG, Leunissen JA. A text-mining analysis of the human phenome. European Journal of Human Genetics : Ejhg. 14: 535-42. PMID 16493445 DOI: 10.1038/Sj.Ejhg.5201585 |
0.377 |
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| 2006 |
Jongmans MCJ, Admiraal RJ, Van Der Donk KP, Vissers LELM, Baas AF, Kapusta L, Van Hagen JM, Donnai D, De Ravel TJ, Veltman JA, Geurts Van Kessel A, De Vries BBA, Brunner HG, Hoefsloot LH, Van Ravenswaaij CMA. CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene Journal of Medical Genetics. 43: 306-314. PMID 16155193 DOI: 10.1136/jmg.2005.036061 |
0.327 |
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| 2006 |
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CWRJ, et al. Erratum: Mutations in different components of FGF signaling in LADD syndrome Nature Genetics. 38: 495-495. DOI: 10.1038/Ng0406-495 |
0.38 |
|
| 2006 |
Reeuwijk Jv, Maugenre S, Elzen CVd, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, Bokhoven HV. Glyc-O-genetics of Walker-Warburg syndrome and related disorders Neuromuscular Disorders. 16: 678-678. DOI: 10.1016/J.Nmd.2006.05.118 |
0.301 |
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| 2006 |
Koolen DA, Herbergs J, Veltman JA, Pfundt R, Van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts Van Kessel A, De Vries BBA. Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1 Journal of Human Genetics. 51: 721-726. DOI: 10.1007/S10038-006-0010-8 |
0.428 |
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| 2005 |
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss Human Mutation.. 26: 591. PMID 16287143 DOI: 10.1002/Humu.9384 |
0.642 |
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| 2005 |
Kalay E, De Brouwer APM, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JGAM, Erdol H, Cremers FPM, Cremers CWRJ, Brunner HG, Kremer H. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome Journal of Molecular Medicine. 83: 1025-1032. PMID 16283141 DOI: 10.1007/S00109-005-0719-4 |
0.517 |
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| 2005 |
Vissers LELM, Veltman JA, van Kessel AG, Brunner HG. Identification of disease genes by whole genome CGH arrays Human Molecular Genetics. 14: R215-R223. PMID 16244320 DOI: 10.1093/Hmg/Ddi268 |
0.378 |
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| 2005 |
De Vries BBA, Pfundt R, Leisink M, Koolen DA, Vissers LELM, Janssen IM, Van Reijmersdal S, Nillesen WM, Huys EHLPG, De Leeuw N, Smeets D, Sistermans EA, Feuth T, Van Ravenswaaij-Arts CMA, Van Kessel AG, ... ... Brunner HG, et al. Diagnostic genome profiling in mental retardation American Journal of Human Genetics. 77: 606-616. PMID 16175506 DOI: 10.1086/491719 |
0.357 |
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| 2005 |
Van Der Zwaag B, Burbach JPH, Brunner HG, Van Bokhoven H, Padberg GW. Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis Developmental Brain Research. 158: 66-71. PMID 15996756 DOI: 10.1016/J.Devbrainres.2005.06.004 |
0.376 |
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| 2005 |
van Driel MA, Cuelenaere K, Kemmeren PP, Leunissen JA, Brunner HG, Vriend G. GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases. Nucleic Acids Research. 33: W758-61. PMID 15980578 DOI: 10.1093/Nar/Gki435 |
0.359 |
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| 2005 |
Van Der Zwaag B, Burbach JPH, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, Van Bokhoven H. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse Genomics. 86: 55-67. PMID 15953540 DOI: 10.1016/J.Ygeno.2005.03.007 |
0.448 |
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| 2005 |
Brunner HG, Van Bokhoven H. Genetic players in esophageal atresia and tracheoesophageal fistula Current Opinion in Genetics and Development. 15: 341-347. PMID 15917211 DOI: 10.1016/J.Gde.2005.04.010 |
0.437 |
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| 2005 |
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. Journal of Medical Genetics. 42: 907-12. PMID 15894594 DOI: 10.1136/Jmg.2005.031963 |
0.436 |
|
| 2005 |
Van Bokhoven H, Celli J, Van Reeuwijk J, Rinne T, Glaudemans B, Van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome Nature Genetics. 37: 465-467. PMID 15821734 DOI: 10.1038/Ng1546 |
0.422 |
|
| 2005 |
Kleefstra T, Smidt M, Banning MJG, Oudakker AR, Van Esch H, De Brouwer APM, Nillesen W, Sistermans EA, Hamel BCJ, De Bruijn D, Fryns JP, Yntema HG, Brunner HG, De Vries BBA, Van Bokhoven H. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome Journal of Medical Genetics. 42: 299-306. PMID 15805155 DOI: 10.1136/Jmg.2004.028464 |
0.317 |
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| 2005 |
Kerstjens-Frederikse WS, Brunner HG, Van Dael CML, Van Essen AJ. Malpuech syndrome: Three patients and a review American Journal of Medical Genetics. 134: 450-453. PMID 15793834 DOI: 10.1002/Ajmg.A.30662 |
0.424 |
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| 2005 |
van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome Clinical Genetics. 67: 281-289. PMID 15733261 DOI: 10.1111/J.1399-0004.2004.00368.X |
0.449 |
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| 2005 |
Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) American Journal of Medical Genetics. 133: 158-164. PMID 15666309 DOI: 10.1002/Ajmg.A.30529 |
0.445 |
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| 2004 |
Koolen DA, Nillesen WM, Versteeg MHA, Merkx GFM, Knoers NVAM, Kets M, Vermeer S, Van Ravenswaaij CMA, De Kovel CG, Brunner HG, Smeets D, De Vries BBA, Sistermans EA. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) Journal of Medical Genetics. 41: 892-899. PMID 15591274 DOI: 10.1136/Jmg.2004.023671 |
0.33 |
|
| 2004 |
Van Der Zwaag B, Verzijl HTFM, Wichers KH, Beltran-Valero De Bernabe D, Brunner HG, Van Bokhoven H, Padberg GW. Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients Pediatric Neurology. 31: 114-118. PMID 15301830 DOI: 10.1016/J.Pediatrneurol.2004.02.004 |
0.488 |
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| 2004 |
Vissers LELM, Van Ravenswaaij CMA, Admiraal R, Hurst JA, De Vries BBA, Janssen IM, Van Der Vliet WA, Huys EHLPG, De Jong PJ, Hamel BCJ, Schoenmakers EFPM, Brunner HG, Veltman JA, Van Kessel AG. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Nature Genetics. 36: 955-957. PMID 15300250 DOI: 10.1038/Ng1407 |
0.477 |
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| 2004 |
Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Human Genetics. 115: 149-56. PMID 15221449 DOI: 10.1007/S00439-004-1137-3 |
0.615 |
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| 2004 |
Brunner HG, Driel MAv. From syndrome families to functional genomics. Nature Reviews Genetics. 5: 545-551. PMID 15211356 DOI: 10.1038/Nrg1383 |
0.43 |
|
| 2003 |
Vissers LELM, Vries BBAd, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, Vliet Wvd, Huys EHLPG, Rijk Av, Smeets D, Ravenswaaij-Arts CMAv, Knoers NV, Burgt Ivd, Jong PJd, ... Brunner HG, et al. Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities American Journal of Human Genetics. 73: 1261-1270. PMID 14628292 DOI: 10.1086/379977 |
0.355 |
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| 2003 |
de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. Journal of Medical Genetics. 40: 845-8. PMID 14627679 DOI: 10.1136/Jmg.40.11.845 |
0.356 |
|
| 2003 |
Celli J, Bokhoven Hv, Brunner HG. Feingold syndrome: clinical review and genetic mapping. American Journal of Medical Genetics Part A. 122: 294-300. PMID 14518066 DOI: 10.1002/Ajmg.A.20471 |
0.457 |
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| 2003 |
Luijendijk MW, van de Pol TJ, van Duijnhoven G, den Hollander AI, ten Caat J, van Limpt V, Brunner HG, Kremer H, Cremers FP. Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs. Genomics. 82: 480-90. PMID 13679028 DOI: 10.1016/S0888-7543(03)00150-2 |
0.569 |
|
| 2003 |
Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. Journal of Medical Genetics. 40: 709-13. PMID 12960219 DOI: 10.1136/Jmg.40.9.709 |
0.616 |
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| 2003 |
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Human Genetics. 113: 268-75. PMID 12827496 DOI: 10.1007/S00439-003-0970-0 |
0.717 |
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| 2003 |
Duijf PHG, Bokhoven Hv, Brunner HG. Pathogenesis of split-hand/split-foot malformation Human Molecular Genetics. 12. PMID 12668597 DOI: 10.1093/Hmg/Ddg090 |
0.481 |
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| 2003 |
Driel MAv, Cuelenaere K, Kemmeren PPCW, Leunissen JAM, Brunner HG. A new web-based data mining tool for the identification of candidate genes for human genetic disorders European Journal of Human Genetics. 11: 57-63. PMID 12529706 DOI: 10.1038/Sj.Ejhg.5200918 |
0.399 |
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| 2002 |
van der Zwaag B, Hellemons AJ, Leenders WP, Burbach JP, Brunner HG, Padberg GW, Van Bokhoven H. PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 225: 336-43. PMID 12412018 DOI: 10.1002/Dvdy.10159 |
0.34 |
|
| 2002 |
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, ... ... Brunner HG, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. American Journal of Human Genetics. 71: 1033-43. PMID 12369018 DOI: 10.1086/342975 |
0.475 |
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| 2002 |
Brunner HG, Hamel BCJ, Bokhoven Hv. P63 gene mutations and human developmental syndromes. American Journal of Medical Genetics. 112: 284-290. PMID 12357472 DOI: 10.1002/Ajmg.10778 |
0.453 |
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| 2002 |
Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, Roosmalen Tv, Jacobs A, Obbema H, Brunner HG, Hamel BCJ, Bokhoven Hv. Expanding phenotype of XNP mutations: mild to moderate mental retardation. American Journal of Medical Genetics. 110: 243-247. PMID 12116232 DOI: 10.1002/Ajmg.10446 |
0.478 |
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| 2002 |
Yntema HG, Kleefstra T, Oudakker AR, Romein T, Vries BBAd, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, Bokhoven Hv. Low frequency of MECP2 mutations in mentally retarded males. European Journal of Human Genetics. 10: 487-490. PMID 12111644 DOI: 10.1038/Sj.Ejhg.5200836 |
0.417 |
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| 2002 |
Van Der Zwaag B, Verzijl HT, Beltran-Valero De Bernabe D, Schuster VL, Van Bokhoven H, Kremer H, Van Reen M, Wichers GH, Brunner HG, Padberg GW. Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10. Journal of Medical Genetics. 39: E30. PMID 12070262 DOI: 10.1136/Jmg.39.6.E30 |
0.354 |
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| 2002 |
Martens J, Lumbroso S, Verhoef-Post M, Georget V, Richter-Unruh A, Szarras-Czapnik M, Romer TE, Brunner H, Themmen A, Sultan C. Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency The Journal of Clinical Endocrinology and Metabolism. 87: 2506-2513. PMID 12050206 DOI: 10.1210/Jcem.87.6.8523 |
0.331 |
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| 2002 |
van Bokhoven H, Brunner HG. Splitting p63. American Journal of Human Genetics. 71: 1-13. PMID 12037717 DOI: 10.1086/341450 |
0.306 |
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| 2002 |
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. American Journal of Human Genetics. 70: 1555-63. PMID 11992261 DOI: 10.1086/340847 |
0.468 |
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| 2002 |
Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, et al. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European Journal of Human Genetics : Ejhg. 10: 197-203. PMID 11973624 DOI: 10.1038/Sj.Ejhg.5200784 |
0.619 |
|
| 2002 |
Veltman JA, Schoenmakers EFPM, Eussen BH, Janssen I, Merkx G, Cleef Bv, Ravenswaaij CMv, Brunner HG, Smeets D, Kessel AGv. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. American Journal of Human Genetics. 70: 1269-1276. PMID 11951177 DOI: 10.1086/340426 |
0.335 |
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| 2002 |
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Human Genetics. 110: 297-301. PMID 11941477 DOI: 10.1007/S00439-002-0695-5 |
0.427 |
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| 2002 |
Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dötsch V, Brunner HG, van Bokhoven H. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Human Molecular Genetics. 11: 799-804. PMID 11929852 DOI: 10.1093/Hmg/11.7.799 |
0.449 |
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| 2002 |
Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP. Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clinical Endocrinology. 56: 103-12. PMID 11849253 DOI: 10.1046/j.0300-0664.2001.01437.x |
0.301 |
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| 2002 |
Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ. A new phenotype of autosomal dominant nemaline myopathy. Neuromuscular Disorders : Nmd. 12: 13-8. PMID 11731279 DOI: 10.1016/S0960-8966(01)00231-0 |
0.32 |
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| 2002 |
Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Erratum: Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly (Hum Genet (2002) 110 (297-301)) Human Genetics. 111. DOI: 10.1007/S00439-002-0800-9 |
0.369 |
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| 2001 |
den Hollander AI, Johnson K, de Kok YJ, Klebes A, Brunner HG, Knust E, Cremers FP. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. Human Molecular Genetics. 10: 2767-73. PMID 11734541 DOI: 10.1093/Hmg/10.24.2767 |
0.547 |
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| 2001 |
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genetics. 29: 465-8. PMID 11704759 DOI: 10.1038/Ng772 |
0.463 |
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| 2001 |
Wal Gvd, Otten BJ, Brunner HG, Burgt CJAMvd. 3-M syndrome: description of six new patients with review of the literature Clinical Dysmorphology. 10: 241-252. PMID 11665997 DOI: 10.1097/00019605-200110000-00002 |
0.325 |
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| 2001 |
Boehmer ALM, Brüggenwirth H, Assendelft Cv, Otten BJ, Verleun-Mooijman MCT, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, Kwast THvd, Vroede MAd, Drop SLS. Genotype versus phenotype in families with androgen insensitivity syndrome. The Journal of Clinical Endocrinology and Metabolism. 86: 4151-4160. PMID 11549642 DOI: 10.1210/Jcem.86.9.7825 |
0.46 |
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| 2001 |
Buggenhout GJCMv, Ravenswaaij-Arts CMAv, Mieloo H, Syrrou M, Hamel BCJ, Brunner HG, Fryns JP. Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients Annales De Genetique. 44: 89-92. PMID 11522247 DOI: 10.1016/S0003-3995(01)01044-9 |
0.314 |
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| 2001 |
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, ... ... Brunner HG, et al. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. American Journal of Human Genetics. 69: 481-92. PMID 11462173 DOI: 10.1086/323123 |
0.476 |
|
| 2001 |
den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. American Journal of Human Genetics. 69: 198-203. PMID 11389483 DOI: 10.1086/321263 |
0.618 |
|
| 2001 |
Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 56: 1059-69. PMID 11320179 DOI: 10.1212/Wnl.56.8.1059 |
0.382 |
|
| 2001 |
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, ... ... Brunner HG, et al. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Human Molecular Genetics. 10: 221-9. PMID 11159940 DOI: 10.1093/Hmg/10.3.221 |
0.477 |
|
| 2000 |
Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S. Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6. Journal of Medical Genetics. 37: 884-6. PMID 11185075 DOI: 10.1136/Jmg.37.11.884 |
0.396 |
|
| 2000 |
Burgt CJAMvd, Brunner HG. Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form American Journal of Medical Genetics. 94: 46-51. PMID 10982482 DOI: 10.1002/1096-8628(20000904)94:1<46::Aid-Ajmg10>3.0.Co;2-I |
0.433 |
|
| 2000 |
Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. American Journal of Human Genetics. 67: 960-6. PMID 10958761 DOI: 10.1086/303079 |
0.645 |
|
| 2000 |
van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics. 25: 423-6. PMID 10932187 DOI: 10.1038/78113 |
0.504 |
|
| 2000 |
Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, ... ... Brunner HG, et al. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. American Journal of Human Genetics. 67: 213-21. PMID 10827106 DOI: 10.1086/302955 |
0.394 |
|
| 2000 |
Admiraal RJ, Brunner HG, Dijkstra TL, Huygen PL, Cremers CW. Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. The Laryngoscope. 110: 457-61. PMID 10718438 DOI: 10.1097/00005537-200003000-00025 |
0.324 |
|
| 2000 |
Celli J, Van Beusekom E, Hennekam RCM, Gallardo ME, Smeets DFCM, Rodríguez De Córdoba S, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LCP, Van Bokhoven H, Brunner HG. Familial syndromic esophageal atresia maps to 2p23-p24 American Journal of Human Genetics. 66: 436-444. PMID 10677303 DOI: 10.1086/302779 |
0.457 |
|
| 2000 |
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. American Journal of Human Genetics. 66: 368-77. PMID 10677296 DOI: 10.1086/302750 |
0.459 |
|
| 1999 |
Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics. 62: 332-43. PMID 10644430 DOI: 10.1006/geno.1999.6004 |
0.686 |
|
| 1999 |
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genetics. 23: 413-9. PMID 10581026 DOI: 10.1038/70516 |
0.408 |
|
| 1999 |
Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, ... ... Brunner HG, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 99: 143-53. PMID 10535733 DOI: 10.1016/S0092-8674(00)81646-3 |
0.483 |
|
| 1999 |
Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, RodrÃguez de Córdoba S. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics. 61: 82-91. PMID 10512683 DOI: 10.1006/Geno.1999.5916 |
0.445 |
|
| 1999 |
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, et al. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nature Genetics. 23: 217-21. PMID 10508521 DOI: 10.1038/13848 |
0.637 |
|
| 1999 |
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjærg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SLH, Friedrich CA, Kaitila I, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes American Journal of Human Genetics. 65: 974-983. PMID 10486316 DOI: 10.1086/302585 |
0.5 |
|
| 1999 |
den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP. Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization. Genomics. 58: 240-9. PMID 10373321 DOI: 10.1006/Geno.1999.5823 |
0.548 |
|
| 1999 |
Ligtenberg MJ, Siers M, Themmen APN, Hanselaar TG, Willemsen W, Brunner HG. Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors. The Journal of Clinical Endocrinology and Metabolism. 84: 2233-2234. PMID 10372736 DOI: 10.1210/Jcem.84.6.5739 |
0.327 |
|
| 1999 |
Cruysberg JRM, Ravenswaaij-Arts CMAv, Pinckers AJLG, Roddi R, Brunner HG. Craniosynostosis associated with ectopia lentis in monozygotic twin sisters. American Journal of Medical Genetics. 82: 201-205. PMID 10215540 DOI: 10.1002/(Sici)1096-8628(19990129)82:3<201::Aid-Ajmg1>3.0.Co;2-E |
0.408 |
|
| 1999 |
Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, Pinkners AJLH, Beersum SECV, Black GCM. Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. Genomics. 57: 219-226. PMID 10198161 DOI: 10.1006/Geno.1999.5766 |
0.443 |
|
| 1999 |
Ligtenberg MJ, Hogervorst FB, Willems HW, Arts PJ, Brink G, Hageman S, Bosgoed EA, Van der Looij E, Rookus MA, Devilee P, Vos EM, Wigbout G, Struycken PM, Menko FH, Rutgers EJ, ... ... Brunner HG, et al. Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. British Journal of Cancer. 79: 1475-8. PMID 10188893 DOI: 10.1038/Sj.Bjc.6690235 |
0.336 |
|
| 1999 |
Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. American Journal of Human Genetics. 64: 1024-35. PMID 10090887 DOI: 10.1086/302323 |
0.618 |
|
| 1999 |
Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nature Genetics. 21: 302-4. PMID 10080184 DOI: 10.1038/6821 |
0.631 |
|
| 1999 |
den Hollander AI, van der Velde-Visser SD, Pinckers AJ, Hoyng CB, Brunner HG, Cremers FP. Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. Human Genetics. 104: 73-6. PMID 10071195 DOI: 10.1007/S004390050912 |
0.624 |
|
| 1999 |
van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. American Journal of Human Genetics. 64: 538-46. PMID 9973291 DOI: 10.1086/302246 |
0.622 |
|
| 1999 |
de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Human Molecular Genetics. 8: 361-6. PMID 9931344 DOI: 10.1093/Hmg/8.2.361 |
0.666 |
|
| 1999 |
Tuerlings JHAM, Otten BJ, Hamilton CJCM, Brunner HG. Radial defects and testicular dysfunction: a new syndrome? Clinical Dysmorphology. 8: 203-205. DOI: 10.1097/00019605-199907000-00009 |
0.361 |
|
| 1998 |
Themmen APN, Martens JWM, Brunner HG. Activating and inactivating mutations in LH receptors Molecular and Cellular Endocrinology. 145: 137-142. PMID 9922110 DOI: 10.1016/S0303-7207(98)00180-4 |
0.33 |
|
| 1998 |
Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies Journal of Medical Genetics. 35: 806-812. PMID 9783702 DOI: 10.1136/Jmg.35.10.806 |
0.438 |
|
| 1998 |
Wijnen JT, Vasen HFA, Khan PM, Zwinderman AH, Van Der Klift H, Mulder A, Tops C, Møller P, Fodde R, Menko F, Taal B, Nagengast F, Brunner H, Kleibeuker J, Sijmons R, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer New England Journal of Medicine. 339: 511-518. PMID 9709044 DOI: 10.1056/Nejm199808203390804 |
0.345 |
|
| 1998 |
Martens JW, Verhoef-Post M, Abelin N, Ezabella M, Toledo SP, Brunner HG, Themmen AP. A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype. Molecular Endocrinology (Baltimore, Md.). 12: 775-84. PMID 9626653 DOI: 10.1210/Mend.12.6.0124 |
0.333 |
|
| 1997 |
Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nature Genetics. 17: 18-9. PMID 9288091 DOI: 10.1038/Ng0997-18 |
0.384 |
|
| 1997 |
van Bokhoven H, Kissing J, Schepens M, van Beersum S, Simons A, Riegman P, McMahon JA, McMahon AP, Brunner HG. Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization. Cytogenetics and Cell Genetics. 77: 288-9. PMID 9284940 DOI: 10.1159/000134600 |
0.306 |
|
| 1997 |
Steensel MAMv, Buma P, Malefijt MCdW, Hoogen FHJvd, Brunner HG. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. American Journal of Medical Genetics. 70: 315-323. PMID 9188673 DOI: 10.1002/(Sici)1096-8628(19970613)70:3<315::Aid-Ajmg19>3.0.Co;2-O |
0.501 |
|
| 1997 |
Ensink RJH, Cremers CWRJ, Brunner HG. Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome Archives of Otolaryngology-Head & Neck Surgery. 123: 97-99. PMID 9006512 DOI: 10.1001/Archotol.1997.01900010107017 |
0.371 |
|
| 1996 |
Ensink RJH, Marres HAM, Brunner HG, Cremers CWRJ. Hearing loss in the Saethre-Chotzen syndrome. Journal of Laryngology and Otology. 110: 952-957. PMID 8977861 DOI: 10.1017/S0022215100135443 |
0.3 |
|
| 1996 |
Lindeman-Kusse MC, Haeringen AV, Hoorweg-Nijman JJG, Brunner HG. Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype American Journal of Medical Genetics. 66: 104-112. PMID 8957526 DOI: 10.1002/(Sici)1096-8628(19961202)66:1<104::Aid-Ajmg28>3.0.Co;2-V |
0.359 |
|
| 1996 |
de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, ... ... Brunner HG, et al. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Human Molecular Genetics. 5: 1229-35. PMID 8872461 DOI: 10.1093/Hmg/5.9.1229 |
0.721 |
|
| 1996 |
Themmen AP, Brunner HG. Luteinizing hormone receptor mutations and sex differentiation European Journal of Endocrinology. 134: 533-540. PMID 8664969 DOI: 10.1530/Eje.0.1340533 |
0.368 |
|
| 1996 |
Lenders JW, Eisenhofer G, Abeling NG, Berger W, Murphy DL, Konings CH, Wagemakers LM, Kopin IJ, Karoum F, van Gennip AH, Brunner HG. Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. The Journal of Clinical Investigation. 97: 1010-9. PMID 8613523 DOI: 10.1172/Jci118492 |
0.338 |
|
| 1995 |
Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG. X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. Human Molecular Genetics. 3: 1151-4. PMID 7981685 DOI: 10.1093/Hmg/3.7.1151 |
0.458 |
|
| 1995 |
Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG. Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. American Journal of Medical Genetics. 56: 312-6. PMID 7778598 DOI: 10.1002/Ajmg.1320560320 |
0.571 |
|
| 1995 |
Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P. Further delineation of the branchio-oculo-facial syndrome. American Journal of Medical Genetics. 56: 42-59. PMID 7747785 DOI: 10.1002/Ajmg.1320560112 |
0.347 |
|
| 1994 |
Linssen WHJP, Bent MJVd, Brunner HG, Poels PJE. Deafness, sensory neuropathy, and ovarian dysgenesis: A new syndrome or a broader spectrum of Perrault syndrome? American Journal of Medical Genetics. 51: 81-82. PMID 8030674 DOI: 10.1002/Ajmg.1320510117 |
0.355 |
|
| 1994 |
LemmInk HH, KIuIjtmans LAJ, Brunner HG, Schröder CH, Knebelmann B, JelInková E, Oost BAv, Monnens LAH, Smeets HJM. Aberrant splicing of the COL4A5 gene in patients with Alport syndrome Human Molecular Genetics. 3: 317-322. PMID 8004101 DOI: 10.1093/Hmg/3.2.317 |
0.448 |
|
| 1994 |
Lemmink HH, MochlzukJ T, Heuvel LPWJvd, Schröder CH, Barrientos A, Monnens LAH, Oost BAv, Brunner HG, Reeders ST, Smeets HJM. Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome Human Molecular Genetics. 3: 1269-1273. PMID 7987301 DOI: 10.1093/Hmg/3.8.1269 |
0.519 |
|
| 1994 |
Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Human Molecular Genetics. 3: 1561-4. PMID 7833911 DOI: 10.1093/Hmg/3.9.1561 |
0.653 |
|
| 1994 |
Abeling NGGM, Gennip AHv, Overmars H, Oost BAv, Brunner HG. Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis Journal of Inherited Metabolic Disease. 17: 339-341. PMID 7807947 DOI: 10.1007/Bf00711824 |
0.331 |
|
| 1993 |
Brunner HG, Nelen MR, van Zandvoort P, Abeling NG, van Gennip AH, Wolters EC, Kuiper MA, Ropers HH, van Oost BA. X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. American Journal of Human Genetics. 52: 1032-9. PMID 8503438 |
0.487 |
|
| 1993 |
Jansen G, Coerwinkel-Driessen M, Nillesen W, Brunner H, Wieringa B. Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene Human Molecular Genetics. 2: 333. PMID 8499928 DOI: 10.1093/Hmg/2.3.333 |
0.58 |
|
| 1993 |
Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CE, Höweler CJ, van Oost BA, Wieringa B, Ropers HH, Smeets HJ. Brief report: reverse mutation in myotonic dystrophy. The New England Journal of Medicine. 328: 476-80. PMID 8421477 DOI: 10.1056/NEJM199302183280705 |
0.645 |
|
| 1993 |
Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WA, Roodvoets AP, Rascher W, van Oost BA. Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome. Genomics. 17: 485-9. PMID 8406498 DOI: 10.1006/Geno.1993.1351 |
0.502 |
|
| 1993 |
Brunner HG, Hulsebos T, Steijlen PM, Kinderen DJd, Steen Avd, Hamel BCJ. Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. American Journal of Medical Genetics. 46: 472-474. PMID 8357027 DOI: 10.1002/Ajmg.1320460428 |
0.432 |
|
| 1993 |
Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. American Journal of Medical Genetics. 47: 901-906. PMID 8279489 DOI: 10.1002/Ajmg.1320470618 |
0.354 |
|
| 1993 |
Brunner HG, Höweler CJ, Smeets HJ, Wieringa B. [An unstable mutation as cause of myotonic dystrophy]. Nederlands Tijdschrift Voor Geneeskunde. 137: 2468-72. PMID 8272119 |
0.55 |
|
| 1993 |
Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, de Die CE, Höweler CJ, van Oost BA, Wieringa B. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). American Journal of Human Genetics. 53: 1016-23. PMID 8213829 |
0.497 |
|
| 1993 |
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science (New York, N.Y.). 262: 578-80. PMID 8211186 DOI: 10.1126/Science.8211186 |
0.537 |
|
| 1992 |
Semmekrot BA, Haraldsson A, Weemaes CMR, Smeets DFCM, Geven WB, Brunner HG. Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis. American Journal of Medical Genetics. 42: 736-740. PMID 1632450 DOI: 10.1002/Ajmg.1320420523 |
0.323 |
|
| 1992 |
Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP. Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). American Journal of Human Genetics. 51: 38-44. PMID 1609803 |
0.303 |
|
| 1992 |
ter Bruggen JP, Tijssen CC, Brunner HG, van Oost BA, Bastiaensen LA. Eye movement disorder: an early expression of the myotonic dystrophy gene? Muscle & Nerve. 15: 358-61. PMID 1557084 DOI: 10.1002/Mus.880150315 |
0.319 |
|
| 1992 |
Brunner HG, Nillesen W, van Oost BA, Jansen G, Wieringa B, Ropers HH, Smeets HJ. Presymptomatic diagnosis of myotonic dystrophy. Journal of Medical Genetics. 29: 780-4. PMID 1453426 |
0.674 |
|
| 1992 |
Smeets HJ, Nillesen WM, Los F, Busch HF, Korneluk RG, Wieringa B, Brunner HG. Prenatal diagnosis of myotonic dystrophy by direct mutation analysis. Lancet (London, England). 340: 237-8. PMID 1353153 DOI: 10.1016/0140-6736(92)90500-3 |
0.539 |
|
| 1991 |
Brunner HG, Spaans F, Smeets HJ, Coerwinkel-Driessen M, Hulsebos T, Wieringa B, Ropers HH. Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. Neurology. 41: 80-4. PMID 1985299 DOI: 10.1212/Wnl.41.1.80 |
0.7 |
|
| 1991 |
Brunner HG, Smeets HJ, Nillesen W, van Oost BA, van den Biezenbos JB, Joosten EM, Pinckers AJ, Hamel BC, Theeuwes AG, Wieringa B. Myotonic dystrophy. Predictive value of normal results on clinical examination. Brain : a Journal of Neurology. 114: 2303-11. PMID 1933246 DOI: 10.1093/Brain/114.5.2303 |
0.588 |
|
| 1991 |
Smeets HJ, Hermens R, Brunner HG, Ropers HH, Wieringa B. Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus. Genomics. 9: 257-63. PMID 1840564 DOI: 10.1016/0888-7543(91)90250-I |
0.697 |
|
| 1991 |
Speleman F, Leroy JG, Roy NV, Paepe AD, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae M, Orye E. Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridization American Journal of Medical Genetics. 41: 381-387. PMID 1789295 DOI: 10.1002/Ajmg.1320410321 |
0.324 |
|
| 1991 |
Hermens R, Coerwinkel M, Brunner H, Smeets H, Wieringa B. MspI RFLP at 19q13.3 identified by the anonymous DNA sequence pX75B (D19S112). Nucleic Acids Research. 19: 1726-1726. PMID 1709283 DOI: 10.1093/Nar/19.7.1726 |
0.334 |
|
| 1991 |
Brunner HG, Smeets B, Smeets D, Nelen M, Cremers CW, Ropers HH. Molecular genetics of X-linked hearing impairment. Annals of the New York Academy of Sciences. 630: 176-90. PMID 1683204 DOI: 10.1111/J.1749-6632.1991.Tb19586.X |
0.485 |
|
| 1991 |
van Oost BA, van Zandvoort PM, Tünte W, Brunner HG, Hoogeboom AJ, Maaswinkel-Mooy PD, Bakkeren J, Hamel B, Ropers HH. Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis. Human Genetics. 86: 404-7. PMID 1671851 |
0.554 |
|
| 1990 |
Willems PJ, Dijkstra I, Van der Auwera BJ, Vits L, Coucke P, Raeymaekers P, Van Broeckhoven C, Consalez GG, Freeman SB, Warren ST, Brouwer OF, Brunner HG, Renier WO, Van Elsen AF, Dumon JE. Assignment of X-linked hydrocephalus to Xq28 by linkage analysis Genomics. 8: 367-370. PMID 1979056 DOI: 10.1016/0888-7543(90)90294-5 |
0.376 |
|
| 1990 |
Breuning MH, Snijdewint FG, Brunner H, Verwest A, Ijdo JW, Saris JJ, Dauwerse JG, Blonden L, Keith T, Callen DF. Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). Journal of Medical Genetics. 27: 603-13. PMID 1978860 DOI: 10.1136/Jmg.27.10.603 |
0.38 |
|
| 1990 |
Temple IK, Brunner H, Jones B, Burn J, Baraitser M. Midline facial defects with ocular colobomata. American Journal of Medical Genetics. 37: 23-27. PMID 1700608 DOI: 10.1002/Ajmg.1320370107 |
0.341 |
|
| 1990 |
Schröder CH, Brunner H, Monnens LAH. Genetic features of Alport's syndrome. Contributions to Nephrology. 80: 3-8. DOI: 10.1159/000418621 |
0.323 |
|
| 1989 |
Brunner H, Schröder C, Monnens L, Veerkamp J, Ropers HH. Alport's syndrome: localization of the X-chromosomal gene and consequences for future investigations. Contributions to Nephrology. 67: 200-5. PMID 3208529 DOI: 10.1159/000415402 |
0.563 |
|
| 1989 |
Brunner H, Schröder C, van Bennekom C, Lambermon E, Tuerlings J, Menzel D, Olbing H, Monnens L, Wieringa B, Ropers HH. Localization of the gene for X-linked Alport's syndrome. Kidney International. 34: 507-10. PMID 3199669 DOI: 10.1038/Ki.1988.210 |
0.578 |
|
| 1989 |
Brunner HG, Korneluk RG, Coerwinkel-Driessen M, MacKenzie A, Smeets H, Lambermon HM, van Oost BA, Wieringa B, Ropers HH. Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). Human Genetics. 81: 308-10. PMID 2703233 DOI: 10.1007/Bf00283680 |
0.657 |
|
| 1989 |
Brunner HG, Smeets H, Lambermon HM, Coerwinkel-Driessen M, van Oost BA, Wieringa B, Ropers HH. A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. Genomics. 5: 589-95. PMID 2575588 DOI: 10.1016/0888-7543(89)90027-X |
0.675 |
|
| 1989 |
Smeets HJ, Brunner HG, Ropers HH, Wieringa B. Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy. Human Genetics. 83: 245-51. PMID 2571562 DOI: 10.1007/Bf00285165 |
0.68 |
|
| 1989 |
Smeets H, Coerwinkel M, Schepens J, Brunner H, Schonk D, Ropers HH, Wieringa B. EcoRI RFLP at 19q13.1 identified by the anonymous DNA sequence p58B18 [D19S32]. Nucleic Acids Research. 17: 3628. PMID 2566984 DOI: 10.1093/Nar/17.9.3628 |
0.525 |
|
| 1989 |
Smeets H, Schepens J, Coerwinkel M, Brunner H, Schonk D, Ropers HH, Wieringa B. TaqI RFLP at 19q13.1 identified by the anonymous DNA sequence p5B18 [D19S28]. Nucleic Acids Research. 17: 3325. PMID 2566967 DOI: 10.1093/Nar/17.8.3325 |
0.524 |
|
| 1989 |
Smeets H, Markslag P, Hulsebos T, Brunner H, Schonk D, Ropers HH, Wieringa B. MspI RFLP at 19cen-q12 identified by the anonymous DNA sequence pPM17.4 [D19S29]. Nucleic Acids Research. 17: 3324. PMID 2471151 DOI: 10.1093/Nar/17.8.3324 |
0.526 |
|
| 1989 |
Smeets H, Schepens J, Coerwinkel M, Brunner H, Schonk D, Ropers HH, Wieringa B. MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p20B18 [D19S30]. Nucleic Acids Research. 17: 3323. PMID 2471150 DOI: 10.1093/Nar/17.8.3323 |
0.528 |
|
| 1988 |
Smeets B, Poddighe J, Brunner H, Ropers H, Wieringa B. Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides. Human Genetics. 80: 49-52. PMID 3417303 DOI: 10.1007/Bf00451455 |
0.659 |
|
| 1988 |
Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, Ropers HH. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Human Genetics. 80: 337-40. PMID 2904400 |
0.639 |
|
| 1987 |
Breuning MH, Brunner H, Saris JJ, Ommen GJBV, Reeders ST, Ijdo JW, Verwest A, Pearson PL. Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. The Lancet. 330: 1359-1361. PMID 2890952 DOI: 10.1016/S0140-6736(87)91256-6 |
0.334 |
|
| 1987 |
Smeets H, Markslag P, Bril J, Hulsebos T, Brunner H, Schonk D, Ropers HH, Wieringa B. EcoRI RFLP at 19 cen-q13.2 identified by the anonymous DNA sequence pPM6.7 (D19S18). Nucleic Acids Research. 15: 8120. PMID 2890138 DOI: 10.1093/Nar/15.19.8120 |
0.642 |
|
| 1987 |
Schepens J, Hulsebos T, Smeets H, Coerwinkel M, Brunner H, Ropers HH, Wieringa B. A locus at 19cen-19q13.2 (D19S15) containing three RFLPs linked to myotonic dystrophy (DM) is recognized by probe pJSB6. Nucleic Acids Research. 15: 3193. PMID 2882485 DOI: 10.1093/Nar/15.7.3193 |
0.652 |
|
| 1987 |
Schepens J, Smeets H, Hulsebos T, Brunner H, Wieringa B. Isolation of a polymorphic DNA sequence pJSB11 (D19S16) from the human chromosome 19cen-q13.2 region linked to the myotonic dystrophy (DM) gene. Nucleic Acids Research. 15: 3192-3192. PMID 2882484 DOI: 10.1093/Nar/15.7.3192 |
0.595 |
|
| 1987 |
Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers H. Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q Human Genetics. 75: 291-293. PMID 2881880 DOI: 10.1007/Bf00281077 |
0.573 |
|
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