| Phenotype and course of Hutchinson–Gilford progeria syndrome MA Merideth, LB Gordon, S Clauss, V Sachdev, ACM Smith, MB Perry, ... New England journal of medicine 358 (6), 592-604, 2008 | 820 | 2008 |
| Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype–phenotype relationship KH Kraemer, NJ Patronas, R Schiffmann, BP Brooks, D Tamura, ... Neuroscience 145 (4), 1388-1396, 2007 | 524 | 2007 |
| FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome BM Kriederman, TL Myloyde, MH Witte, SL Dagenais, CL Witte, ... Human molecular genetics 12 (10), 1179-1185, 2003 | 216 | 2003 |
| Uveal coloboma: clinical and basic science update L Chang, D Blain, S Bertuzzi, BP Brooks Current opinion in ophthalmology 17 (5), 447-470, 2006 | 169 | 2006 |
| DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, ... Human mutation 34 (6), 827-835, 2013 | 153 | 2013 |
| Primary cilium-mediated retinal pigment epithelium maturation is disrupted in ciliopathy patient cells HL May-Simera, Q Wan, BS Jha, J Hartford, V Khristov, R Dejene, ... Cell reports 22 (1), 189-205, 2018 | 145 | 2018 |
| In vitro modeling using ciliopathy-patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations H Shimada, Q Lu, C Insinna-Kettenhofen, K Nagashima, MA English, ... Cell reports 20 (2), 384-396, 2017 | 144 | 2017 |
| Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance PP Feuillan, D Ng, JC Han, JC Sapp, K Wetsch, E Spaulding, YC Zheng, ... The Journal of Clinical Endocrinology & Metabolism 96 (3), E528-E535, 2011 | 143 | 2011 |
| 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 | 133 | 2017 |
| Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature ES Doherty, F Lacbawan, DW Hadley, C Brewer, C Zalewski, HJ Kim, ... American Journal of Medical Genetics Part A 143 (24), 3204-3215, 2007 | 123 | 2007 |
| Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes M Asai-Coakwell, CR French, M Ye, K Garcha, K Bigot, AG Perera, ... Human molecular genetics 18 (6), 1110-1121, 2009 | 117 | 2009 |
| Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage BP Brooks, AH Thompson, RJ Bishop, JA Clayton, CC Chan, ET Tsilou, ... Ophthalmology 120 (7), 1324-1336, 2013 | 116 | 2013 |
| Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia BD Solomon, DE Pineda‐Alvarez, JZ Balog, D Hadley, AL Gropman, ... American Journal of Medical Genetics Part A 149 (11), 2543-2546, 2009 | 116 | 2009 |
| Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000–2005 BP Brooks, R Kleta, C Stuart, M Tuchman, A Jeong, SG Stergiopoulos, ... Clinical genetics 68 (3), 215-221, 2005 | 110 | 2005 |
| Biallelic mutations in MITF cause coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness A George, DJ Zand, RB Hufnagel, R Sharma, YV Sergeev, JM Legare, ... The American Journal of Human Genetics 99 (6), 1388-1394, 2016 | 105 | 2016 |
| Developing cellular therapies for retinal degenerative diseases K Bharti, M Rao, SC Hull, D Stroncek, BP Brooks, E Feigal, JC van Meurs, ... Investigative ophthalmology & visual science 55 (2), 1191-1202, 2014 | 96 | 2014 |
| Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature HL Ramkumar, BP Brooks, X Cao, D Tamura, JJ DiGiovanna, ... Survey of ophthalmology 56 (4), 348-361, 2011 | 96 | 2011 |
| A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome SA Di Gioia, S Connors, N Matsunami, J Cannavino, MF Rose, NM Gilette, ... Nature communications 8 (1), 16077, 2017 | 95 | 2017 |
| Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations JJ Johnston, KL Lewis, D Ng, LN Singh, J Wynter, C Brewer, BP Brooks, ... The American Journal of Human Genetics 96 (6), 913-925, 2015 | 83 | 2015 |
| Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7 C Niu, TP Prakash, A Kim, JL Quach, LA Huryn, Y Yang, E Lopez, ... Science translational medicine 10 (465), eaap8677, 2018 | 81 | 2018 |