| Year |
Citation |
Score |
| 2023 |
Alghadeer A, Hanson-Drury S, Patni AP, Ehnes DD, Zhao YT, Li Z, Phal A, Vincent T, Lim YC, O'Day D, Spurrell CH, Gogate AA, Zhang H, Devi A, Wang Y, ... ... Doherty D, et al. Single-cell census of human tooth development enables generation of human enamel. Developmental Cell. PMID 37582367 DOI: 10.1016/j.devcel.2023.07.013 |
0.528 |
|
| 2023 |
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, ... ... Doherty D, et al. Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. Journal of Medical Genetics. PMID 36788019 DOI: 10.1136/jmg-2022-108725 |
0.312 |
|
| 2022 |
Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American Journal of Medical Genetics. Part A. PMID 35751429 DOI: 10.1002/ajmg.a.62872 |
0.35 |
|
| 2022 |
Van De Weghe JC, Gomez A, Doherty D. The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies. Annual Review of Genomics and Human Genetics. PMID 35655331 DOI: 10.1146/annurev-genom-121321-093528 |
0.309 |
|
| 2022 |
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, ... ... Doherty D, et al. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35579625 DOI: 10.1016/j.gim.2022.04.010 |
0.323 |
|
| 2021 |
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, ... ... Doherty D, et al. haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Journal of Medical Genetics. PMID 34675124 DOI: 10.1136/jmedgenet-2021-108114 |
0.342 |
|
| 2021 |
Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. American Journal of Medical Genetics. Part A. PMID 34523780 DOI: 10.1002/ajmg.a.62497 |
0.316 |
|
| 2021 |
Aldinger KA, Thomson Z, Phelps IG, Haldipur P, Deng M, Timms AE, Hirano M, Santpere G, Roco C, Rosenberg AB, Lorente-Galdos B, Gulden FO, O'Day D, Overman LM, Lisgo SN, ... ... Doherty D, et al. Spatial and cell type transcriptional landscape of human cerebellar development. Nature Neuroscience. PMID 34140698 DOI: 10.1038/s41593-021-00872-y |
0.551 |
|
| 2021 |
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, ... ... Doherty D, et al. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. Hgg Advances. 2. PMID 33791682 DOI: 10.1016/j.xhgg.2020.100016 |
0.333 |
|
| 2020 |
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, ... ... Doherty D, et al. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Human Mutation. PMID 33131181 DOI: 10.1002/humu.24127 |
0.377 |
|
| 2020 |
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, ... ... Doherty D, et al. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. The Journal of Clinical Investigation. PMID 32453716 DOI: 10.1172/Jci131656 |
0.373 |
|
| 2020 |
Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, et al. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. American Journal of Human Genetics. PMID 32275884 DOI: 10.1016/J.Ajhg.2020.03.009 |
0.712 |
|
| 2019 |
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain : a Journal of Neurology. PMID 31834374 DOI: 10.1093/Brain/Awz379 |
0.438 |
|
| 2019 |
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, ... ... Doherty D, et al. Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics. Part A. PMID 31710777 DOI: 10.1002/Ajmg.A.61399 |
0.403 |
|
| 2019 |
Wright JN, Rutledge J, Doherty D, Perez F. Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome. Ajnr. American Journal of Neuroradiology. PMID 31649160 DOI: 10.3174/Ajnr.A6280 |
0.378 |
|
| 2019 |
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, ... ... Doherty D, et al. Redefining the Etiologic Landscape of Cerebellar Malformations. American Journal of Human Genetics. PMID 31474318 DOI: 10.1016/J.Ajhg.2019.07.019 |
0.643 |
|
| 2019 |
Dines JN, Liu YJ, Neufeld-Kaiser W, Sawyer T, Ishak GE, Tully HM, Racobaldo M, Sanchez-Valle A, Disteche CM, Juusola J, Torti E, McWalter K, Doherty D, Dipple KM. Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. American Journal of Medical Genetics. Part A. PMID 31294511 DOI: 10.1002/Ajmg.A.61281 |
0.395 |
|
| 2018 |
Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 178: 432-439. PMID 30580482 DOI: 10.1002/Ajmg.C.31666 |
0.406 |
|
| 2018 |
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, ... Doherty D, et al. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics. PMID 30554721 DOI: 10.1016/J.Ajhg.2018.11.005 |
0.391 |
|
| 2018 |
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, ... ... Doherty D, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics. PMID 30471716 DOI: 10.1016/J.Ajhg.2018.10.019 |
0.398 |
|
| 2018 |
Valente EM, Nuovo S, Doherty D. Genetics of cerebellar disorders. Handbook of Clinical Neurology. 154: 267-286. PMID 29903444 DOI: 10.1016/B978-0-444-63956-1.00016-3 |
0.388 |
|
| 2017 |
Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, et al. Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center. Journal of Pediatric Gastroenterology and Nutrition. PMID 29112083 DOI: 10.1097/Mpg.0000000000001816 |
0.363 |
|
| 2017 |
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, ... ... Doherty D, et al. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. American Journal of Human Genetics. PMID 29106825 DOI: 10.1016/J.Ajhg.2017.09.015 |
0.392 |
|
| 2017 |
Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction. American Journal of Human Genetics. 101: 291-299. PMID 28777934 DOI: 10.1016/J.Ajhg.2017.07.006 |
0.416 |
|
| 2017 |
Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R. Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771248 DOI: 10.1038/Gim.2017.94 |
0.451 |
|
| 2017 |
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, ... ... Doherty D, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics. PMID 28625504 DOI: 10.1016/J.Ajhg.2017.05.010 |
0.481 |
|
| 2017 |
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC, Vilboux T, et al. Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. American Journal of Medical Genetics. Part A. PMID 28497568 DOI: 10.1002/Ajmg.A.38272 |
0.315 |
|
| 2017 |
Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Mortality in Joubert syndrome. American Journal of Medical Genetics. Part A. PMID 28371402 DOI: 10.1002/Ajmg.A.38158 |
0.374 |
|
| 2017 |
Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, et al. Abnormal glycosylation in Joubert syndrome type 10. Cilia. 6: 2. PMID 28344780 DOI: 10.1186/S13630-017-0048-6 |
0.408 |
|
| 2017 |
Poretti A, Snow J, Summers AC, Tekes A, Huisman TA, Aygun N, Carson KA, Doherty D, Parisi MA, Toro C, Yildirimli D, Vemulapalli M, Mullikin JC, Cullinane AR, et al. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. Journal of Medical Genetics. PMID 28087721 DOI: 10.1136/Jmedgenet-2016-104425 |
0.389 |
|
| 2016 |
Chapman T, Perez FA, Ishak GE, Doherty D. Prenatal diagnosis of Chudley-McCullough syndrome. American Journal of Medical Genetics. Part A. PMID 27312216 DOI: 10.1002/Ajmg.A.37806 |
0.397 |
|
| 2016 |
Aldinger KA, Doherty D. The genetics of cerebellar malformations. Seminars in Fetal & Neonatal Medicine. PMID 27160001 DOI: 10.1016/J.Siny.2016.04.008 |
0.403 |
|
| 2016 |
Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z, ... ... Doherty D, et al. Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. American Journal of Human Genetics. PMID 27040692 DOI: 10.1016/J.Ajhg.2016.01.016 |
0.336 |
|
| 2015 |
Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Nabhan MM, Doherty D, Hildebrandt F. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Journal of Medical Genetics. PMID 26673778 DOI: 10.1136/Jmedgenet-2015-103304 |
0.356 |
|
| 2015 |
Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, ... ... Doherty D, et al. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. Journal of Medical Genetics. PMID 26490104 DOI: 10.1136/Jmedgenet-2015-103250 |
0.446 |
|
| 2015 |
Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, et al. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. Plos Genetics. 11: e1005575. PMID 26485645 DOI: 10.1371/Journal.Pgen.1005575 |
0.379 |
|
| 2015 |
Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB. Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences. Journal of Child Neurology. PMID 26184484 DOI: 10.1177/0883073815592222 |
0.595 |
|
| 2015 |
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, ... ... Doherty D, et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biology. PMID 26167768 DOI: 10.1038/Ncb3201 |
0.42 |
|
| 2015 |
Vernon MM, Powell D, Schultz AH, Simon TD, Doherty D. Is routine preoperative transthoracic echocardiography necessary in newborns with myelomeningocele? Journal of Perinatology : Official Journal of the California Perinatal Association. 35: 842-5. PMID 26156062 DOI: 10.1038/Jp.2015.74 |
0.315 |
|
| 2015 |
Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M, Shendure J, Doherty D. KIAA0586 is Mutated in Joubert Syndrome. Human Mutation. PMID 26096313 DOI: 10.1002/Humu.22821 |
0.451 |
|
| 2015 |
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, ... ... Doherty D, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics. PMID 26092869 DOI: 10.1136/Jmedgenet-2015-103087 |
0.414 |
|
| 2015 |
Pan L, Shah AN, Phelps IG, Doherty D, Johnson EA, Moens CB. Rapid identification and recovery of ENU-induced mutations with next-generation sequencing and Paired-End Low-Error analysis. Bmc Genomics. 16: 83. PMID 25886285 DOI: 10.1186/S12864-015-1263-4 |
0.323 |
|
| 2015 |
Poretti A, Denecke J, Miller DC, Schiffmann H, Buhk JH, Grange DK, Doherty D, Boltshauser E. Brainstem disconnection: two additional patients and expansion of the phenotype. Neuropediatrics. 46: 139-44. PMID 25671339 DOI: 10.1055/S-0034-1544127 |
0.315 |
|
| 2015 |
Bachmann-Gagescu R, Dempsey J, Phelps I, Isabella C, O'Day D, O'Roak B, Shendure J, Glass I, Doherty D. Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing Cilia. 4. DOI: 10.1186/2046-2530-4-S1-P8 |
0.417 |
|
| 2015 |
Szymanska K, Wheway G, Doherty D, Schmidts M, Mans D, Nguyen TMT, Boldt K, Tödt G, Abdelhamed Z, Wunderlich K, Natarajan S, Parry DA, Logan CV, Herridge W, Sorusch N, et al. A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes Cilia. 4: 1-1. DOI: 10.1186/2046-2530-4-S1-O12 |
0.366 |
|
| 2014 |
Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, ... ... Doherty D, et al. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. American Journal of Human Genetics. 95: 227-34. PMID 25105227 DOI: 10.1016/J.Ajhg.2014.07.007 |
0.449 |
|
| 2014 |
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, ... ... Doherty D, et al. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics. 94: 62-72. PMID 24360808 DOI: 10.1016/J.Ajhg.2013.11.019 |
0.423 |
|
| 2014 |
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, ... ... Doherty D, et al. Erratum: Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without jeune asphyxiating thoracic dystrophy (American Journal of Human Genetics (2014) 94 (62-72)) American Journal of Human Genetics. 94. DOI: 10.1016/J.Ajhg.2014.01.003 |
0.422 |
|
| 2013 |
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, ... ... Doherty D, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. American Journal of Human Genetics. 93: 915-25. PMID 24140113 DOI: 10.1016/J.Ajhg.2013.09.012 |
0.405 |
|
| 2013 |
Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM, Weiss A, Phillips JO, Doherty D. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 2019-23. PMID 24105968 DOI: 10.1002/Mds.25634 |
0.312 |
|
| 2013 |
Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. The Journal of Biological Chemistry. 288: 13676-94. PMID 23532844 DOI: 10.1074/Jbc.M112.420786 |
0.381 |
|
| 2013 |
Doherty D, Millen KJ, Barkovich AJ. Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. The Lancet. Neurology. 12: 381-93. PMID 23518331 DOI: 10.1016/S1474-4422(13)70024-3 |
0.61 |
|
| 2012 |
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, ... ... Doherty D, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/Science.1227764 |
0.356 |
|
| 2012 |
Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M. GPSM2 mutations in Chudley-McCullough syndrome. American Journal of Medical Genetics. Part A. 158: 2972-3. PMID 22987632 DOI: 10.1002/Ajmg.A.35636 |
0.381 |
|
| 2012 |
Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. American Journal of Medical Genetics. Part A. 158: 2393-406. PMID 22965664 DOI: 10.1002/Ajmg.A.35561 |
0.634 |
|
| 2012 |
Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. American Journal of Human Genetics. 90: 1088-93. PMID 22578326 DOI: 10.1016/J.Ajhg.2012.04.008 |
0.431 |
|
| 2012 |
Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, et al. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. American Journal of Human Genetics. 90: 856-63. PMID 22541562 DOI: 10.1016/J.Ajhg.2012.03.023 |
0.403 |
|
| 2012 |
Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain : a Journal of Neurology. 135: 1370-86. PMID 22451504 DOI: 10.1093/Brain/Aws065 |
0.639 |
|
| 2012 |
Juric-Sekhar G, Adkins J, Doherty D, Hevner RF. Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia. Acta Neuropathologica. 123: 695-709. PMID 22331178 DOI: 10.1007/S00401-012-0951-2 |
0.37 |
|
| 2012 |
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, ... ... Doherty DA, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/Ng.1078 |
0.306 |
|
| 2012 |
Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, ... ... Doherty D, et al. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of Medical Genetics. 49: 126-37. PMID 22241855 DOI: 10.1136/Jmedgenet-2011-100552 |
0.425 |
|
| 2012 |
Bachmann-Gagescu R, Phelps I, Forbes A, Doherty D, Moens C. Live imaging of Rab8 trafficking defects in cc2d2a mutant zebrafish Cilia. 1: 1-1. DOI: 10.1186/2046-2530-1-S1-O29 |
0.333 |
|
| 2012 |
Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJM, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, et al. Erratum: GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome (American Journal of Human Genetics (2012) 90 (1088-1093)) American Journal of Human Genetics. 91. DOI: 10.1016/J.Ajhg.2012.06.002 |
0.407 |
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| 2011 |
Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, ... ... Doherty D, et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. American Journal of Human Genetics. 89: 713-30. PMID 22152675 DOI: 10.1016/J.Ajhg.2011.11.005 |
0.429 |
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| 2011 |
Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y. COL4A1 mutations associated with a characteristic pattern of intracranial calcification. Neuropediatrics. 42: 227-33. PMID 22134833 DOI: 10.1055/S-0031-1295493 |
0.414 |
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| 2011 |
Bachmann-Gagescu R, Phelps IG, Stearns G, Link BA, Brockerhoff SE, Moens CB, Doherty D. The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. Human Molecular Genetics. 20: 4041-55. PMID 21816947 DOI: 10.1093/Hmg/Ddr332 |
0.379 |
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| 2011 |
Doherty D, Millen KJ. Wormless without wingless. Nature Medicine. 17: 663-5. PMID 21647144 DOI: 10.1038/Nm0611-663 |
0.62 |
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| 2010 |
Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. American Journal of Medical Genetics. Part A. 152: 1411-9. PMID 20503315 DOI: 10.1002/Ajmg.A.33416 |
0.444 |
|
| 2010 |
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Journal of Medical Genetics. 47: 8-21. PMID 19574260 DOI: 10.1136/Jmg.2009.067249 |
0.427 |
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| 2010 |
Doherty D, Tsuchiya KD, Mefford HC, Shurtleff DB. Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele) Cerebrospinal Fluid Research. 7. DOI: 10.1186/1743-8454-7-S1-S20 |
0.37 |
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| 2009 |
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. American Journal of Human Genetics. 85: 909-15. PMID 20004765 DOI: 10.1016/J.Ajhg.2009.11.009 |
0.378 |
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| 2009 |
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. American Journal of Human Genetics. 85: 465-81. PMID 19800048 DOI: 10.1016/J.Ajhg.2009.09.002 |
0.405 |
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| 2009 |
Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Seminars in Pediatric Neurology. 16: 143-54. PMID 19778711 DOI: 10.1016/J.Spen.2009.06.002 |
0.446 |
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| 2009 |
Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. The Journal of Pediatrics. 155: 386-92.e1. PMID 19540516 DOI: 10.1016/J.Jpeds.2009.03.045 |
0.441 |
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| 2009 |
Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO. Eye movement abnormalities in Joubert syndrome. Investigative Ophthalmology & Visual Science. 50: 4669-77. PMID 19443711 DOI: 10.1167/Iovs.08-3299 |
0.329 |
|
| 2009 |
Jissendi-Tchofo P, Doherty D, McGillivray G, Hevner R, Shaw D, Ishak G, Leventer R, Barkovich AJ. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. Ajnr. American Journal of Neuroradiology. 30: 113-9. PMID 18842761 DOI: 10.3174/Ajnr.A1305 |
0.311 |
|
| 2008 |
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, ... ... Doherty D, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. American Journal of Human Genetics. 83: 559-71. PMID 18950740 DOI: 10.1016/J.Ajhg.2008.10.002 |
0.439 |
|
| 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 |
0.383 |
|
| 2007 |
Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). European Journal of Human Genetics : Ejhg. 15: 511-21. PMID 17377524 DOI: 10.1038/Sj.Ejhg.5201648 |
0.418 |
|
| 2006 |
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Journal of Medical Genetics. 43: 334-9. PMID 16155189 DOI: 10.1136/Jmg.2005.036608 |
0.425 |
|
| 2006 |
Doherty D, Shurtleff D, Duguay S, Avellino A. Outcome for fetuses with a diagnosis of myelomeningocele, Hydrocephalus and Brain Anomalies Cerebrospinal Fluid Research. 3: 1-1. DOI: 10.1186/1743-8454-3-S1-S22 |
0.335 |
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