1.Frequency and Complexity of De Novo Structural Mutation in Autism

Brandler, WM, Antaki     More...

Brandler, WM, Antaki, D, Gujral, M, Noor, A, Rosanio, G, Chapman, TR, Barrera, DJ, Lin, GN, Malhotra, D, Watts, AC, Wong, LC, Estabillo, JA, Gadomski, TE, Hong, O, Fajardo, KVF, Bhandari, A, Owen, R, Baughn, M, Yuan, J, Solomon, T, Moyzis, AG, Maile, MS, Sanders, SJ, Reiner, GE, Vaux, KK, Strom, CM, Zhang, K, Muotri, AR, Akshoomoff, N, Leal, SM, Pierce, K, Courchesne, E, Iakoucheva, LM, Corse, C, Sebat, J     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2016, Volume 98, Issue 4, Pages 667-679

收錄情况： WOS SCOPUS

WOS核心合集引用: 64  2022影響因子:  9.8  发表年影響因子:  9.025 

2.A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

Riazuddin, SA, Iqbal     More...

Riazuddin, SA, Iqbal, M, Wang, Y, Masuda, T, Chen, Y, Bowne, S, Sullivan, LS, Waseem, NH, Bhattacharya, S, Daiger, SP, Zhang, K, Khan, SN, Riazuddin, S, Hejtmancik, JF, Sieving, PA, Zack, DJ, Katsanis, N     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2010, Volume 86, Issue 5, Pages 805-812

收錄情况： WOS SCOPUS

WOS核心合集引用: 91  2022影響因子:  9.8  发表年影響因子:  11.680 

3.Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q

Toomes, C, Bottomley     More...

Toomes, C, Bottomley, HM, Jackson, RM, Towns, KV, Scott, S, Mackey, DA, Craig, JE, Jiang, L, Yang, ZL, Trembath, R, Woodruff, G, Gregory-Evans, CY, Gregory-Evans, K, Parker, MJ, Black, GCM, Downey, LM, Zhang, K, Inglehearn, CF     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2004, Volume 74, Issue 4, Pages 721-730

收錄情况： WOS SCOPUS

WOS核心合集引用: 273  2022影響因子:  9.8  发表年影響因子:  12.340 

4.Abnormal subcellular localization and apoptotic cell death of mutant ELOVL4, the gene for Stargardt-like macular dystrophy (STGD3).

Karan, G, Faulkner,     More...

Karan, G, Faulkner, N, Payne, M, Machan, M, Thirumalaichary, S, Sims, S, Jiang, L, Yang, Z, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2003, Volume 73, Issue 5, Pages 353-353

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WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  11.602 

5.Autosomal dominant retinitis pigmentosa: evidence for a novel disease-causing gene

Jiang, L, Payne, M,     More...

Jiang, L, Payne, M, Faulkner, N, Machan, M, Sims, S, Hart, K, Li, X, Bernstein, P, Yang, Z, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2003, Volume 73, Issue 5, Pages 492-492

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WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  11.602 

6.Leber Congenital Amaurosis: evidence for a novel disease-causing gene in a Greek family.

Yang, Z, Ptersen, MB     More...

Yang, Z, Ptersen, MB, Faulkner, N, Payne, M, Machan, M, Sims, S, Jiang, L, Li, X, Hu, J, Aperis, G, Grigoriadou, M, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2003, Volume 73, Issue 5, Pages 494-494

收錄情况： WOS

WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  11.602 

7.Autosomal dominant stargardt macular dystrophy: Clinical features and linkage analysis in a large Greek family.

Karan, G, Fan, K, Ki     More...

Karan, G, Fan, K, Kitsos, G, Yang, Z, Economou-Petersen, E, Grigoriadou, M, Psilas, K, Petersen, MB, Zack, DJ, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2002, Volume 71, Issue 4, Pages 440-440

收錄情况： WOS

WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  10.649 

8.A novel mutation in PITX3 associated with an autosomal dominant form of congenital cataract

Yang, Z, Lin, W, Pel     More...

Yang, Z, Lin, W, Pellarano, G, Valdez-Guerrero, ME, Pellerano-Noboa, G, Taveras, D, Caraballo, R, Jiang, L, Thirumalaichary, S, Pan, J, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2002, Volume 71, Issue 4, Pages 525-525

收錄情况： WOS

WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  10.649 

9.Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy

Wilkie, SE, Li, Y, D     More...

Wilkie, SE, Li, Y, Deery, EC, Newbold, RJ, Garibaldi, D, Bateman, JB, Zhang, H, Lin, W, Zack, DJ, Bhattacharya, SS, Warren, MJ, Hunt, DM, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2001, Volume 69, Issue 3, Pages 471-480

收錄情况： WOS SCOPUS

WOS核心合集引用: 88  2022影響因子:  9.8  发表年影響因子:  10.542 

10.Autosomal dominant Stargardt disease: clinical features and linkage analysis in a large Greek pedigree.

Kitsos, G, Zhang, K,     More...

Kitsos, G, Zhang, K, Yang, Z, Economou-Petersen, E, Grigoriadou, M, Pampanos, A, Zack, DJ, Psilas, K, Petersen, MB     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2001, Volume 69, Issue 4, Pages 542-542

收錄情况： WOS

WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  10.542 

11.A novel mutation in RDS/peripherin gene causing butterfly-shaped pattern dystrophy and adult onset foveal macular dystrophy.

Yang, Z, Yu, Z, Li,     More...

Yang, Z, Yu, Z, Li, Y, Jocobson, S, Thirumalaichary, S, Zack, D, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2001, Volume 69, Issue 4, Pages 611-611

收錄情况： WOS

WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  10.542 

12.The elongation of very long chain fatty acids (ELOVL4) gene is not associated with sporadic cases of Stargardt Disease.

Ducroq, D, Rozet, JM     More...

Ducroq, D, Rozet, JM, Souied, E, Gerber, S, Perrault, I, Hanein, S, Barbet, F, Ghazi, I, Dufier, JL, Munnich, A, Zhang, K, Kaplan, J     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2001, Volume 69, Issue 4, Pages 625-625

收錄情况： WOS

WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  10.542 

13.Further evidence for an association of ABCR alleles with age-related macular degeneration

Allikmets, R     More...

Allikmets, R     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 2000, Volume 67, Issue 2, Pages 487-491

收錄情况： WOS SCOPUS

WOS核心合集引用: 223  2022影響因子:  9.8  发表年影響因子:  10.351 

14.A new locus for autosomal dominant Stargardt-like disease maps to chromosome 4

Kniazeva, M, Chiang,     More...

Kniazeva, M, Chiang, MF, Morgan, B, Anduze, AL, Zack, DJ, Han, M, Zhang, K     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 1999, Volume 64, Issue 5, Pages 1394-1399

收錄情况： WOS SCOPUS

WOS核心合集引用: 75  2022影響因子:  9.8  发表年影響因子:  10.426 

15.The ABCR gene recessive and dominant Stargardt diseases: A genetic pathway in macular degeneration.

Zhang, K, Garibaldi,     More...

Zhang, K, Garibaldi, DC, Kniazeva, M, Hutchinson, A, Han, M, Dean, M, Allikmets, R     Less

AMERICAN JOURNAL OF HUMAN GENETICS[0002-9297], Published 1999, Volume 65, Issue 4, Pages A115-A115

收錄情况： WOS

WOS核心合集引用: 0  2022影響因子:  9.8  发表年影響因子:  10.426