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

    Brandler, WM, Antaki     More...

    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: 50  2021影響因子:  11.043  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...

    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: 84  2021影響因子:  11.043  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...

    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: 254  2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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...

    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: 84  2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  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

    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: 213  2021影響因子:  11.043  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...

    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: 69  2021影響因子:  11.043  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...

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

    收錄情况: WOS

    2021影響因子:  11.043  发表年影響因子:  10.426 

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