au.\*:("NG, Sarah B")
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Exome sequencing as a tool for Mendelian disease gene discoveryBAMSHAD, Michael J; NG, Sarah B; BIGHAM, Abigail W et al.Nature reviews. Genetics (Print). 2011, Vol 12, Num 11, pp 745-755, issn 1471-0056, 11 p.Article
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeNG, Sarah B; BIGHAM, Abigail W; LEE, Choli et al.Nature genetics. 2010, Vol 42, Num 9, pp 790-793, issn 1061-4036, 4 p.Article
Targeted capture and massively parallel sequencing of 12 human exomesNG, Sarah B; TURNER, Emily H; BAMSHAD, Michael et al.Nature (London). 2009, Vol 461, Num 7261, pp 272-276, issn 0028-0836, 5 p.Article
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsO'ROAK, Brian J; DERIZIOTIS, Pelagia; RIEDER, Mark J et al.Nature genetics. 2011, Vol 43, Num 6, pp 585-589, issn 1061-4036, 5 p.Article
Exome sequencing identifies the cause of a mendelian disorderNG, Sarah B; BUCKINGHAM, Kati J; SHENDURE, Jay et al.Nature genetics. 2010, Vol 42, Num 1, pp 30-35, issn 1061-4036, 6 p.Article
Haplotype-resolved genome sequencing of a Gujarati Indian individualKITZMAN, Jacob O; MACKENZIE, Alexandra P; SHENDURE, Jay et al.Nature biotechnology (Print). 2011, Vol 29, Num 1, pp 59-63, issn 1087-0156, 5 p.Article
Spectrum of MLL2 [ALR] Mutations in 110 Cases of Kabuki SyndromeHANNIBAL, Mark C; BUCKINGHAM, Kati J; COOK, Joseph et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1511-1516, issn 1552-4825, 6 p.Article
Massively parallel sequencing and rare diseaseNG, Sarah B; NICKERSON, Deborah A; BAMSHAD, Michael J et al.Human molecular genetics (Print). 2010, Vol 19, issn 0964-6906, R119-R124, NS2Article