| Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center T Vilboux, DA Doherty, IA Glass, MA Parisi, IG Phelps, AR Cullinane, ... Genetics in Medicine 19 (8), 875-882, 2017 | 121 | 2017 |
| A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1 MC LaFave, GK Varshney, M Vemulapalli, JC Mullikin, SM Burgess Genetics 198 (1), 167-170, 2014 | 93 | 2014 |
| Dysbiosis in epizootic shell disease of the American lobster (Homarus americanus) NJ Meres, CC Ajuzie, M Sikaroodi, M Vemulapalli, JD Shields, ... Journal of Shellfish Research 31 (2), 463-472, 2012 | 78 | 2012 |
| Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes T Zhang, J Choi, MA Kovacs, J Shi, M Xu, AM Goldstein, AJ Trower, ... Genome research 28 (11), 1621-1635, 2018 | 77 | 2018 |
| Prospective evaluation of kidney disease in Joubert syndrome LR Fleming, DA Doherty, MA Parisi, IA Glass, J Bryant, R Fischer, ... Clinical journal of the American Society of Nephrology 12 (12), 1962-1973, 2017 | 72 | 2017 |
| Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause A Poretti, J Snow, AC Summers, A Tekes, TAGM Huisman, N Aygun, ... Journal of medical genetics 54 (8), 521-529, 2017 | 61 | 2017 |
| Joubert syndrome: ophthalmological findings in correlation with genotype and hepatorenal disease in 99 patients prospectively evaluated at a single center BP Brooks, WM Zein, AH Thompson, M Mokhtarzadeh, DA Doherty, ... Ophthalmology 125 (12), 1937-1952, 2018 | 52 | 2018 |
| Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50 SC Chandrasekharappa, SB Chinn, FX Donovan, NI Chowdhury, ... Cancer 123 (20), 3943-3954, 2017 | 52 | 2017 |
| Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes MCV Malicdan, T Vilboux, J Stephen, D Maglic, L Mian, D Konzman, ... Journal of medical genetics 52 (12), 830-839, 2015 | 52 | 2015 |
| A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families DC Kimble, FP Lach, SQ Gregg, FX Donovan, EK Flynn, A Kamat, ... Human mutation 39 (2), 237-254, 2018 | 46 | 2018 |
| Dosage compensation and DNA methylation landscape of the X chromosome in mouse liver CG Duncan, SA Grimm, DL Morgan, PR Bushel, BD Bennett, JD Roberts, ... Scientific reports 8 (1), 10138, 2018 | 43 | 2018 |
| Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency J Stephen, T Vilboux, L Mian, C Kuptanon, CM Sinclair, D Yildirimli, ... Human genetics 136, 399-408, 2017 | 41 | 2017 |
| CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency T Vilboux, MCV Malicdan, JC Roney, AR Cullinane, J Stephen, ... American journal of medical genetics Part A 173 (3), 661-666, 2017 | 40 | 2017 |
| Evaluation of recipients of positive and negative secondary findings evaluations in a hybrid CLIA-research sequencing pilot JC Sapp, JJ Johnston, K Driscoll, AR Heidlebaugh, AM Sagardia, ... The American Journal of Human Genetics 103 (3), 358-366, 2018 | 39 | 2018 |
| Hypoxia‐induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis SK Loftus, LL Baxter, JC Cronin, TD Fufa, ... Pigment cell & melanoma research 30 (3), 339-352, 2017 | 38 | 2017 |
| Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center AC Summers, J Snow, E Wiggs, AG Liu, C Toro, A Poretti, WM Zein, ... American journal of medical genetics Part A 173 (7), 1796-1812, 2017 | 35 | 2017 |
| Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism B Guan, JM Welch, M Vemulapalli, Y Li, H Ling, E Kebebew, WF Simonds, ... Journal of the Endocrine Society 1 (5), 488-499, 2017 | 30 | 2017 |
| Genetic effects on liver chromatin accessibility identify disease regulatory variants KW Currin, MR Erdos, N Narisu, V Rai, S Vadlamudi, HJ Perrin, JR Idol, ... The American Journal of Human Genetics 108 (7), 1169-1189, 2021 | 28 | 2021 |
| Characteristics of liver disease in 100 individuals with Joubert syndrome prospectively evaluated at a single center A Strongin, T Heller, D Doherty, IA Glass, MA Parisi, J Bryant, P Choyke, ... Journal of pediatric gastroenterology and nutrition 66 (3), 428-435, 2018 | 26 | 2018 |
| Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects T Vilboux, MCV Malicdan, YM Chang, J Guo, PM Zerfas, J Stephen, ... Journal of medical genetics 53 (5), 318-329, 2016 | 26 | 2016 |
