| Year |
Citation |
Score |
| 2021 |
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V, Friedman J, ... ... Campeau PM, et al. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human Genetics. PMID 33944996 DOI: 10.1007/s00439-021-02283-2 |
0.332 |
|
| 2021 |
Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, ... ... Campeau PM, et al. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. American Journal of Human Genetics. PMID 33811806 DOI: 10.1016/j.ajhg.2021.03.017 |
0.37 |
|
| 2021 |
Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C, Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, et al. Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. Hgg Advances. 2: 100015. PMID 33537682 DOI: 10.1016/j.xhgg.2020.100015 |
0.306 |
|
| 2021 |
Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, Vona B, Rad A, Striano P, Salpietro V, Guillen Sacoto MJ, ... ... Campeau PM, et al. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia. PMID 33410539 DOI: 10.1111/epi.16801 |
0.34 |
|
| 2021 |
Salian S, Benkerroum H, Nguyen TTM, Nampoothiri S, Kinoshita T, Félix TM, Stewart F, Sisodiya SM, Murakami Y, Campeau PM. PIGF deficiency causes a phenotype overlapping with DOORS syndrome. Human Genetics. PMID 33386993 DOI: 10.1007/s00439-020-02251-2 |
0.354 |
|
| 2020 |
Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clinical Genetics. PMID 33156547 DOI: 10.1111/cge.13877 |
0.302 |
|
| 2020 |
Beauregard-Lacroix E, Pacheco-Cuellar G, Ajeawung NF, Tardif J, Dieterich K, Dabir T, Vind-Kezunovic D, White SM, Zadori D, Castiglioni C, Tranebjærg L, Tørring PM, Blair E, Wisniewska M, Camurri MV, ... ... Campeau PM, et al. DOORS syndrome and a recurrent truncating ATP6V1B2 variant. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32873933 DOI: 10.1038/s41436-020-00950-9 |
0.308 |
|
| 2020 |
Zádori D, Szalárdy L, Reisz Z, Kovacs GG, Maszlag-Török R, Ajeawung NF, Vécsei L, Campeau PM, Klivényi P. Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the Gene. Frontiers in Neurology. 11: 767. PMID 32849222 DOI: 10.3389/Fneur.2020.00767 |
0.381 |
|
| 2020 |
Collins M, Miranda V, Rousseau J, Kratz LE, Campeau P. A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly. Bone. 115601. PMID 32827848 DOI: 10.1016/J.Bone.2020.115601 |
0.402 |
|
| 2020 |
Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, ... ... Campeau PM, et al. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. American Journal of Human Genetics. PMID 32822602 DOI: 10.1016/J.Ajhg.2020.08.002 |
0.387 |
|
| 2020 |
Belle JI, Wang H, Fiore A, Petrov JC, Lin YH, Feng CH, Nguyen TTM, Tung J, Campeau PM, Behrends U, Brunet T, Leszinski GS, Gros P, Langlais D, Nijnik A. MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction. Jci Insight. 5. PMID 32641579 DOI: 10.1172/Jci.Insight.125690 |
0.39 |
|
| 2020 |
Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, ... ... Campeau PM, et al. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature. Journal of Inherited Metabolic Disease. PMID 32588908 DOI: 10.1002/Jimd.12278 |
0.408 |
|
| 2020 |
Olthof AM, Rasmussen JS, Campeau PM, Kanadia RN. Disrupted minor intron splicing is prevalent in Mendelian disorders. Molecular Genetics & Genomic Medicine. e1374. PMID 32573973 DOI: 10.1002/Mgg3.1374 |
0.372 |
|
| 2020 |
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, ... ... Campeau P, et al. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. European Journal of Human Genetics : Ejhg. PMID 32483341 DOI: 10.1038/S41431-020-0654-4 |
0.382 |
|
| 2020 |
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, ... ... Campeau PM, et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32424177 DOI: 10.1038/S41436-020-0811-8 |
0.401 |
|
| 2020 |
Whyte MP, Campeau PM, McAlister WH, Roodman GD, Kurihara N, Nenninger A, Duan S, Gottesman GS, Bijanki VN, Sedighi H, Veis DJ, Mumm S. Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7). Bone. 137: 115364. PMID 32298837 DOI: 10.1016/J.Bone.2020.115364 |
0.405 |
|
| 2020 |
Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, ... ... Campeau PM, et al. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. American Journal of Human Genetics. PMID 32220290 DOI: 10.1016/J.Ajhg.2020.03.001 |
0.4 |
|
| 2020 |
Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, ... ... Campeau PM, et al. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. PMID 32135084 DOI: 10.1016/J.Neuron.2020.01.042 |
0.419 |
|
| 2020 |
Aref-Eshghi E, Kerkhof J, Pedro VP, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, ... ... Campeau PM, et al. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. American Journal of Human Genetics. PMID 32109418 DOI: 10.1016/J.Ajhg.2020.01.019 |
0.378 |
|
| 2020 |
Boycott KM, Campeau PM, Howley HE, Pavlidis P, Rogic S, Oriel C, Berman JN, Hamilton RM, Hicks GG, Lipshitz HD, Masson JY, Shoubridge EA, Junker A, Leroux MR, McMaster CR, et al. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms. American Journal of Human Genetics. 106: 143-152. PMID 32032513 DOI: 10.1016/J.Ajhg.2020.01.009 |
0.316 |
|
| 2020 |
Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, ... ... Campeau PM, et al. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Science Advances. 6: eaax0021. PMID 32010779 DOI: 10.1126/Sciadv.Aax0021 |
0.376 |
|
| 2019 |
Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Mai Nguyen TT, Baratang NV, Kinoshita T, Percy ME, Campeau PM, Murakami Y, Cole DE, Krawitz PN, Mabry CC. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. European Journal of Medical Genetics. 103822. PMID 31805394 DOI: 10.1016/J.Ejmg.2019.103822 |
0.421 |
|
| 2019 |
Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, ... ... Campeau PM, et al. Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. The Journal of Clinical Investigation. PMID 31794431 DOI: 10.1172/Jci131145 |
0.372 |
|
| 2019 |
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, ... ... Campeau PM, et al. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. American Journal of Human Genetics. PMID 31785787 DOI: 10.1016/J.Ajhg.2019.11.002 |
0.406 |
|
| 2019 |
Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau PM. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. European Journal of Human Genetics : Ejhg. PMID 31695177 DOI: 10.1038/S41431-019-0539-6 |
0.442 |
|
| 2019 |
Champagne M, Olivier P, Glavas P, Cantin MA, Rauch F, Alos N, Campeau PM. A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia. European Journal of Medical Genetics. 103784. PMID 31605817 DOI: 10.1016/J.Ejmg.2019.103784 |
0.482 |
|
| 2019 |
Onoufriadis A, Simpson JK, McDonald C, Nguyen TTM, Campeau PM, Simpson MA, Martinez AE, McGrath JA. Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL. Clinical and Experimental Dermatology. PMID 31535386 DOI: 10.1111/Ced.14077 |
0.399 |
|
| 2019 |
Mumm S, Gottesman GS, Wenkert D, Campeau PM, Nenninger A, Huskey M, Bijanki VN, Veis DJ, Barnes AM, Marini JC, Stolina M, Zhang F, McAlister WH, Whyte MP. Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. Bone. 115047. PMID 31472299 DOI: 10.1016/J.Bone.2019.115047 |
0.498 |
|
| 2019 |
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, et al. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. American Journal of Human Genetics. PMID 31422819 DOI: 10.1016/J.Ajhg.2019.07.015 |
0.443 |
|
| 2019 |
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, ... ... Campeau PM, et al. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31388190 DOI: 10.1038/S41436-019-0612-0 |
0.394 |
|
| 2019 |
Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. American Journal of Human Genetics. PMID 31303264 DOI: 10.1016/J.Ajhg.2019.06.011 |
0.483 |
|
| 2019 |
Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, ... ... Campeau PM, et al. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. American Journal of Human Genetics. PMID 31256876 DOI: 10.1016/J.Ajhg.2019.05.019 |
0.488 |
|
| 2019 |
Bauer CK, Schneeberger PE, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White SM, Campeau PM, Gripp KW, Kutsche K. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca-Activated K Channel SK3 Cause Zimmermann-Laband Syndrome. American Journal of Human Genetics. PMID 31155282 DOI: 10.1016/J.Ajhg.2019.04.012 |
0.346 |
|
| 2019 |
Baratang NV, Jimenez Cruz DA, Ajeawung NF, Nguyen TTM, Pacheco-Cuéllar G, Campeau PM. Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants. Molecular Genetics & Genomic Medicine. e743. PMID 31127708 DOI: 10.1002/Mgg3.743 |
0.386 |
|
| 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, ... ... Campeau PM, 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 |
0.449 |
|
| 2019 |
Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, ... ... Campeau PM, et al. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. American Journal of Human Genetics. PMID 30879640 DOI: 10.1016/J.Ajhg.2019.02.001 |
0.457 |
|
| 2019 |
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, ... ... Campeau PM, et al. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics. PMID 30827496 DOI: 10.1016/J.Ajhg.2019.01.010 |
0.438 |
|
| 2019 |
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, ... ... Campeau PM, et al. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics. PMID 30773277 DOI: 10.1016/J.Ajhg.2019.01.007 |
0.425 |
|
| 2019 |
Samuels ME, Campeau PM. Genetics of the patella. European Journal of Human Genetics : Ejhg. PMID 30664715 DOI: 10.1038/S41431-018-0329-6 |
0.393 |
|
| 2019 |
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, ... ... Campeau PM, et al. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30643220 DOI: 10.1038/S41436-018-0413-X |
0.307 |
|
| 2018 |
Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, ... ... Campeau PM, et al. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone. PMID 30599297 DOI: 10.1016/J.Bone.2018.12.020 |
0.419 |
|
| 2018 |
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, ... ... Campeau PM, et al. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. American Journal of Human Genetics. PMID 30580808 DOI: 10.1016/J.Ajhg.2018.11.007 |
0.461 |
|
| 2018 |
Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, et al. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. Nature Communications. 9: 4885. PMID 30459321 DOI: 10.1038/S41467-018-07193-Y |
0.372 |
|
| 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, ... ... Campeau PM, 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 |
0.458 |
|
| 2018 |
Shelihan I, Ehresmann S, Magnani C, Forzano F, Baldo C, Brunetti-Pierri N, Campeau PM. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. Human Genetics. PMID 30368667 DOI: 10.1007/S00439-018-1950-8 |
0.425 |
|
| 2018 |
van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, et al. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30349098 DOI: 10.1038/S41436-018-0330-Z |
0.397 |
|
| 2018 |
Finelli MJ, Aprile D, Castroflorio E, Jeans A, Moschetta M, Chessum L, Degiacomi MT, Grasegger J, Lupien-Meilleur A, Bassett A, Rossignol E, Campeau PM, Bowl MR, Benfenati F, Fassio A, et al. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. Human Molecular Genetics. PMID 30335140 DOI: 10.1093/Hmg/Ddy370 |
0.454 |
|
| 2018 |
Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, ... ... Campeau PM, et al. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. American Journal of Human Genetics. PMID 30269814 DOI: 10.1016/J.Ajhg.2018.08.014 |
0.471 |
|
| 2018 |
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, ... ... Campeau PM, et al. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30245510 DOI: 10.1038/S41436-018-0290-3 |
0.401 |
|
| 2018 |
Bellai-Dussault K, Nguyen TTM, Baratang NV, Jimenez Cruz DA, Campeau PM. Clinical variability in inherited GPI deficiency disorders. Clinical Genetics. PMID 30054924 DOI: 10.1111/Cge.13425 |
0.416 |
|
| 2018 |
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, ... ... Campeau PM, et al. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain : a Journal of Neurology. PMID 29985992 DOI: 10.1093/Brain/Awy173 |
0.459 |
|
| 2018 |
Nguyen TTM, Mahida SD, Smith-Hicks C, Campeau PM. A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism. Human Mutation. PMID 29603516 DOI: 10.1002/Humu.23426 |
0.476 |
|
| 2018 |
Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, Tsiakas K, Prokisch H, Rossignol E, Helm MH, Rodan LH, Karamchandani J, Carecchio M, Lubbe SJ, Telegrafi A, ... ... Campeau PM, et al. Recessive mutations in VPS13D cause childhood-onset movement disorders. Annals of Neurology. PMID 29518281 DOI: 10.1002/Ana.25204 |
0.384 |
|
| 2018 |
Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, ... ... Campeau PM, et al. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. European Journal of Human Genetics : Ejhg. PMID 29330547 DOI: 10.1038/S41431-017-0087-X |
0.46 |
|
| 2018 |
Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Proceedings of the National Academy of Sciences of the United States of America. PMID 29311329 DOI: 10.1073/Pnas.1715378115 |
0.459 |
|
| 2018 |
Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD, Boycott KM, Campeau PM, Schwartz C, Sadikovic B. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. American Journal of Human Genetics. 102: 156-174. PMID 29304373 DOI: 10.1016/J.Ajhg.2017.12.008 |
0.382 |
|
| 2017 |
Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, et al. FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis. Human Molecular Genetics. PMID 29267967 DOI: 10.1093/Hmg/Ddx426 |
0.454 |
|
| 2017 |
Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29261186 DOI: 10.1097/01.Ogx.0000550387.91867.88 |
0.437 |
|
| 2017 |
Trejo P, Rauch F, Glorieux FH, Ouellet J, Benaroch T, Campeau PM. Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. Molecular Syndromology. 8: 303-307. PMID 29230159 DOI: 10.1159/000479672 |
0.378 |
|
| 2017 |
Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, ... ... Campeau PM, et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics. 101: 856-865. PMID 29100095 DOI: 10.1016/J.Ajhg.2017.09.020 |
0.366 |
|
| 2017 |
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, ... ... Campeau PM, et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". American Journal of Human Genetics. 101: 815-823. PMID 29100092 DOI: 10.1016/J.Ajhg.2017.09.019 |
0.426 |
|
| 2017 |
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, ... ... Campeau PM, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics. 101: 664-685. PMID 29100083 DOI: 10.1016/J.Ajhg.2017.09.008 |
0.458 |
|
| 2017 |
Beauregard-Lacroix E, Tardif J, Lemyre E, Kibar Z, Faure C, Campeau PM. Genetic Testing in a Cohort of Complex Esophageal Atresia. Molecular Syndromology. 8: 236-243. PMID 28878607 DOI: 10.1159/000477429 |
0.326 |
|
| 2017 |
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Hieter P, Boycott KM, Campeau PM, Bellen HJ. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 207: 9-27. PMID 28874452 DOI: 10.1534/Genetics.117.203067 |
0.305 |
|
| 2017 |
Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, ... ... Campeau PM, et al. Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000research. 6: 553. PMID 28663785 DOI: 10.12688/F1000Research.10588.1 |
0.478 |
|
| 2017 |
Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, ... ... Campeau PM, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Human Mutation. PMID 28649782 DOI: 10.1002/Humu.23282 |
0.431 |
|
| 2017 |
Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P, Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, et al. Yunis-Varón syndrome caused by biallelic VAC14 mutations. European Journal of Human Genetics : Ejhg. PMID 28635952 DOI: 10.1038/Ejhg.2017.99 |
0.459 |
|
| 2017 |
Madan S, Liu W, Lu JT, Sutton VR, Toth B, Joe P, Waterson JR, Gibbs RA, Van den Veyver IB, Lammer EJ, Campeau PM, Lee BH. A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Molecular Genetics and Metabolism Reports. 12: 57-61. PMID 28626639 DOI: 10.1016/J.Ymgmr.2017.06.002 |
0.437 |
|
| 2017 |
Pacheco-Cuéllar G, Gauthier J, Désilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Dal Soglio DB, Kokta V, Haddad É, Campeau PM. A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 28543917 DOI: 10.1002/Jbmr.3173 |
0.459 |
|
| 2017 |
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, ... ... Campeau PM, et al. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Human Molecular Genetics. PMID 28334793 DOI: 10.1093/Hmg/Ddx077 |
0.468 |
|
| 2017 |
Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, ... ... Campeau PM, et al. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harbor Molecular Case Studies. 3: a000984. PMID 28299356 DOI: 10.1101/mcs.a000984 |
0.404 |
|
| 2017 |
Murray N, Hanna B, Graf N, Fu H, Mylène V, Campeau PM, Ronan A. The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence. European Journal of Medical Genetics. PMID 28286173 DOI: 10.1016/J.Ejmg.2017.02.005 |
0.377 |
|
| 2017 |
Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, et al. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. The Journal of Clinical Investigation. PMID 28263186 DOI: 10.1172/Jci90193 |
0.428 |
|
| 2016 |
Ranza E, Huber C, Levin N, Baujat G, Bole-Feysot C, Nitschke P, Masson C, Alanay Y, Al-Gazali L, Bitoun P, Boute O, Campeau P, Coubes C, McEntagart M, Elcioglu N, et al. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Clinical Genetics. PMID 28229453 DOI: 10.1111/Cge.12885 |
0.4 |
|
| 2016 |
Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. Journal of Human Genetics. PMID 28003643 DOI: 10.1038/Jhg.2016.151 |
0.442 |
|
| 2016 |
Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CT, Stegmann AP, Robak L, Scaglia F, Nguyen TT, Fu H, Ajeawung NF, Camurri MV, Li L, ... ... Campeau PM, et al. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. American Journal of Human Genetics. PMID 27939640 DOI: 10.1016/J.Ajhg.2016.11.011 |
0.425 |
|
| 2016 |
Beauregard-Lacroix E, Tardif J, Camurri MV, Lemyre E, Barchi S, Parent S, Campeau PM. Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses. Spine. PMID 27879578 DOI: 10.1097/Brs.0000000000001983 |
0.35 |
|
| 2016 |
Al-Mehmadi S, Splitt M, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA. FHF1 (FGF12) epileptic encephalopathy. Neurology. Genetics. 2: e115. PMID 27830185 DOI: 10.1212/Nxg.0000000000000115 |
0.441 |
|
| 2016 |
Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. Journal of Medical Genetics. PMID 27694521 DOI: 10.1136/Jmedgenet-2016-104202 |
0.424 |
|
| 2016 |
Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, ... ... Campeau PM, et al. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. American Journal of Human Genetics. PMID 27616479 DOI: 10.1016/J.Ajhg.2016.08.001 |
0.446 |
|
| 2016 |
Falardeau F, Camurri MV, Campeau PM. Genomic approaches to diagnose rare bone disorders. Bone. PMID 27474525 DOI: 10.1016/J.Bone.2016.07.020 |
0.336 |
|
| 2016 |
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Epilepsy in KCNH1-related syndromes. Epileptic Disorders : International Epilepsy Journal With Videotape. PMID 27267311 DOI: 10.1684/Epd.2016.0830 |
0.401 |
|
| 2016 |
Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, et al. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability. American Journal of Human Genetics. PMID 26833329 DOI: 10.1016/J.Ajhg.2015.12.014 |
0.353 |
|
| 2016 |
Sasarman F, Maftei C, Campeau PM, Brunel-Guitton C, Mitchell GA, Allard P. Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests. Journal of Inherited Metabolic Disease. 39: 173-88. PMID 26689402 DOI: 10.1007/S10545-015-9903-Z |
0.378 |
|
| 2015 |
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, ... ... Campeau PM, et al. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nature Genetics. 47: 661-7. PMID 25915598 DOI: 10.1038/Ng.3282 |
0.454 |
|
| 2015 |
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, ... ... Campeau PM, et al. Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. American Journal of Human Genetics. 96: 816-25. PMID 25865493 DOI: 10.1016/J.Ajhg.2015.03.001 |
0.473 |
|
| 2015 |
Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. American Journal of Medical Genetics. Part A. 167: 1309-14. PMID 25846959 DOI: 10.1002/Ajmg.A.36899 |
0.433 |
|
| 2015 |
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, et al. FBN1 contributing to familial congenital diaphragmatic hernia. American Journal of Medical Genetics. Part A. 167: 831-6. PMID 25736269 DOI: 10.1002/Ajmg.A.36960 |
0.471 |
|
| 2015 |
Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, et al. A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers. Clinical Genetics. 87: 133-40. PMID 24754836 DOI: 10.1111/Cge.12409 |
0.303 |
|
| 2014 |
Lu JT, Campeau PM, Lee BH. Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing The New England Journal of Medicine. 371: 593-596. PMID 25119605 DOI: 10.1056/Nejmp1400788 |
0.341 |
|
| 2014 |
Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Molecular Genetics and Metabolism Reports. 1: 213-219. PMID 25019053 DOI: 10.1016/J.Ymgmr.2014.04.004 |
0.377 |
|
| 2014 |
Burrage LC, Nagamani SC, Campeau PM, Lee BH. Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Human Molecular Genetics. 23: R1-8. PMID 24651065 DOI: 10.1093/Hmg/Ddu123 |
0.312 |
|
| 2014 |
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, et al. Myhre and LAPS syndromes: clinical and molecular review of 32 patients. European Journal of Human Genetics : Ejhg. 22: 1272-7. PMID 24424121 DOI: 10.1038/Ejhg.2013.288 |
0.474 |
|
| 2014 |
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. The Lancet. Neurology. 13: 44-58. PMID 24291220 DOI: 10.1016/S1474-4422(13)70265-5 |
0.41 |
|
| 2014 |
Campeau PM, Hennekam RC, Aftimos S, Banka S, Begleiter ML, Bilo L, Blair E, Burrage LC, Liu DS, De Bie I, Félix TM, Giltay JC, Gibbs RA, Giuliano F, Hadzsiev K, et al. DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 166: 327-332. DOI: 10.1002/Ajmg.C.31412 |
0.472 |
|
| 2013 |
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. European Journal of Medical Genetics. 56: 678-82. PMID 24176758 DOI: 10.1016/J.Ejmg.2013.09.009 |
0.444 |
|
| 2013 |
Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, et al. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Human Molecular Genetics. 22: 4339-48. PMID 23773997 DOI: 10.1093/Hmg/Ddt283 |
0.377 |
|
| 2013 |
Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. American Journal of Human Genetics. 92: 996-1000. PMID 23731537 DOI: 10.1016/J.Ajhg.2013.04.026 |
0.41 |
|
| 2013 |
Grover M, Campeau PM, Lietman CD, Lu JT, Gibbs RA, Schlesinger AE, Lee BH. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 2333-7. PMID 23674381 DOI: 10.1002/Jbmr.1983 |
0.437 |
|
| 2013 |
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. The New England Journal of Medicine. 368: 1809-16. PMID 23656646 DOI: 10.1056/Nejmoa1215458 |
0.446 |
|
| 2013 |
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, et al. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. American Journal of Human Genetics. 92: 781-91. PMID 23623387 DOI: 10.1016/J.Ajhg.2013.03.020 |
0.491 |
|
| 2013 |
Burrage LC, Lu JT, Liu DS, Moss TJ, Gibbs R, Schlesinger AE, Bacino CA, Campeau PM, Lee BH. Early childhood presentation of Czech dysplasia. Clinical Dysmorphology. 22: 76-80. PMID 23448908 DOI: 10.1097/Mcd.0B013E32835Fff39 |
0.409 |
|
| 2013 |
Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, et al. Next-generation sequencing for disorders of low and high bone mineral density. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 24: 2253-9. PMID 23443412 DOI: 10.1007/S00198-013-2290-0 |
0.391 |
|
| 2013 |
Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, ... Campeau PM, et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 1523-30. PMID 23408678 DOI: 10.1002/Jbmr.1891 |
0.419 |
|
| 2013 |
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, Parboosingh JS, Innes AM. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Human Mutation. 34: 97-102. PMID 23033274 DOI: 10.1002/Humu.22222 |
0.448 |
|
| 2013 |
Laine C, Joeng KS, Campeau P, Kiviranta R, Tarkkonen K, Grover M, Lu J, Pekkinen M, Wessman M, Heino T, Nieminen-Pihala V, Laine T, Kroger H, Cole W, Lehesjoki A, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass Bone Abstracts. DOI: 10.1530/Boneabs.2.Lb2 |
0.332 |
|
| 2013 |
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP, Parboosingh JS, Innes AM. Erratum to Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis [Human Mutation, 34, 1 (97-102)] DOI 10.1002/humu.22222] Human Mutation. 34. DOI: 10.1002/Humu.22290 |
0.429 |
|
| 2012 |
Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S, Högler W, Shaw NJ, Mumm S, Gibbs RA, Whyte MP, Lee BH. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Human Molecular Genetics. 21: 4904-9. PMID 22875837 DOI: 10.1093/Hmg/Dds326 |
0.434 |
|
| 2012 |
Campeau PM, Astapova O, Martins R, Bergeron J, Couture P, Hegele RA, Leff T, Gagné C. Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency Journal of Lipid Research. 53: 1968-1978. PMID 22750678 DOI: 10.1194/Jlr.P025437 |
0.436 |
|
| 2012 |
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Human Mutation. 33: 1520-5. PMID 22715153 DOI: 10.1002/Humu.22141 |
0.476 |
|
| 2012 |
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, et al. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. American Journal of Human Genetics. 90: 282-9. PMID 22265014 DOI: 10.1016/J.Ajhg.2011.11.023 |
0.464 |
|
| 2009 |
Campeau PM, Valayannopoulos V, Touati G, Bahi-Buisson N, Boddaert N, Plouin P, Rabier D, Benoist JF, Dulac O, de Lonlay P, Desguerre I. Management of West syndrome in a patient with methylmalonic aciduria. Journal of Child Neurology. 25: 94-7. PMID 19700743 DOI: 10.1177/0883073809336119 |
0.319 |
|
| 2009 |
Campeau PM, Rafei M, Boivin MN, Sun Y, Grabowski GA, Galipeau J. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood. 114: 3181-90. PMID 19587377 DOI: 10.1182/Blood-2009-02-205708 |
0.325 |
|
| 2009 |
Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JT. Clinical heterogeneity in ethylmalonic encephalopathy. Journal of Child Neurology. 24: 991-6. PMID 19289697 DOI: 10.1177/0883073808331359 |
0.361 |
|
| Show low-probability matches. |