关注
Brian P. Brooks
Brian P. Brooks
National Eye Institute
在 nei.nih.gov 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
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
7642008
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
5032007
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
2092003
Uveal coloboma: clinical and basic science update
L Chang, D Blain, S Bertuzzi, BP Brooks
Current opinion in ophthalmology 17 (5), 447-470, 2006
1622006
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
1442013
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
1322011
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
1262018
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
1252017
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
1182017
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
1162009
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
1152007
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
1112009
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
1082013
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
1082005
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
932014
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
912016
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
872011
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
822017
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
822015
Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure
JD Brown, S Dutta, K Bharti, RF Bonner, PJ Munson, IB Dawid, AL Akhtar, ...
Proceedings of the National Academy of Sciences 106 (5), 1462-1467, 2009
772009
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