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Pulmonary disease is a component of distal arthrogryposis type 5WILLIAMS, Marc S; ELLIOTT, C. Gregory; BAMSHAD, Michael J et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 7, pp 752-756, issn 1552-4825, 5 p.Article

Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary PhenotypeKNOWLES, Michael R; OSTROWSKI, Lawrence E; ROSENFELD, Margaret et al.American journal of respiratory and critical care medicine. 2014, Vol 189, Num 6, pp 707-717, issn 1073-449X, 11 p.Article

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformationEVERMAN, David B; MORGAN, Chad T; SCHRANDER-STUMPEL, Connie et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 13, pp 1375-1383, issn 1552-4825, 9 p.Article

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotypeBRASSINGTON, Anna-Marie E; SUNG, Sandy S; TOYDEMIR, Reha M et al.American journal of human genetics. 2003, Vol 73, Num 1, pp 74-85, issn 0002-9297, 12 p.Article

Human population genetic structure and inference of group membershipBAMSHAD, Michael J; WOODING, Stephen; WATKINS, W. Scott et al.American journal of human genetics. 2003, Vol 72, Num 3, pp 578-589, issn 0002-9297, 12 p.Article

Toll-like Receptor Polymorphism Associations With HIV-1 Outcomes Among Sub-Saharan AfricansMACKELPRANG, Romel D; BIGHAM, Abigail W; MULLINS, James I et al.The Journal of infectious diseases. 2014, Vol 209, Num 10, pp 1623-1627, issn 0022-1899, 5 p.Article

Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medicationsNELSEN, Linda M; SHIELDS, Kristine E; CUNNINGHAM, Michael L et al.Journal of allergy and clinical immunology. 2012, Vol 129, Num 1, pp 251-254, issn 0091-6749, 4 p.Article

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager SyndromeBERNIER, Francois P; CALUSERIU, Oana; BYERS, Peter H et al.American journal of human genetics. 2012, Vol 90, Num 5, pp 925-933, issn 0002-9297, 9 p.Article

Molecular and clinical analyses of greig cephalopolysyndactyly and pallister-hall syndromes : Robust phenotype prediction from the type and position of GL13 mutationsJOHNSTON, Jennifer J; OLIVOS-GLANDER, Isabelle; BOOTH, Carol et al.American journal of human genetics. 2005, Vol 76, Num 4, pp 609-622, issn 0002-9297, 14 p.Article

Natural selection and molecular evolution in PTC, a bitter-taste receptor geneWOODING, Stephen; KIM, Un-Kyung; BAMSHAD, Michael J et al.American journal of human genetics. 2004, Vol 74, Num 4, pp 637-646, issn 0002-9297, 10 p.Article

Genomics Really Gets Personal: How Exome and Whole Genome Sequencing Challenge the Ethical Framework of Human Genetics ResearchTABOR, Holly K; BERKMAN, Benjamin E; CHANDROS HULL, Sara et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 2916-2924, issn 1552-4825, 9 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

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndromeTONKIN, Emma T; WANG, Tzu-Jou; LISGO, Steven et al.Nature genetics. 2004, Vol 36, Num 6, pp 636-641, issn 1061-4036, 6 p.Article

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosisEMOND, Mary J; LOUIE, Tin; BARNES, Kathleen C et al.Nature genetics. 2012, Vol 44, Num 8, pp 886-889, issn 1061-4036, 4 p.Article

Informed Consent for Whole Genome Sequencing: A Qualitative Analysis of Participant Expectations and Perceptions of Risks, Benefits, and HarmsTABOR, Holly K; STOCK, Jacquie; BRAZG, Tracy et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1310-1319, issn 1552-4825, 10 p.Article

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing StudiesLEE, Seunggeun; EMOND, Mary J; BAMSHAD, Michael J et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 224-237, issn 0002-9297, 14 p.Article

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

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8TOYDEMIR, Reha M; CHEN, Harold; PROUD, Virginia K et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 22, pp 2387-2393, issn 1552-4825, 7 p.Article

Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5WOODING, Stephen; STONE, Anne C; DUNN, Diane M et al.American journal of human genetics. 2005, Vol 76, Num 2, pp 291-301, issn 0002-9297, 11 p.Article

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2LEMMERS, Richard J. L. F; TAWIL, Rabi; KROM, Yvonne D et al.Nature genetics. 2012, Vol 44, Num 12, pp 1370-1374, issn 1061-4036, 5 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

Lack of Association of Functional CTLA4 Polymorphisms With Juvenile Idiopathic ArthritisPRAHALAD, Sampath; BOHNSACK, John F; WHITING, April et al.Arthritis and rheumatism. 2008, Vol 58, Num 7, pp 2147-2152, issn 0004-3591, 6 p.Article

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of holt-oram and ulnar-mammary syndromesBOROZDIN, Wiktor; BRAVO-FERRER ACOSTA, Ana M; SEEMANOVA, Eva et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 17, pp 1880-1886, issn 1552-4825, 7 p.Article

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndromeTOYDEMIR, Reha M; BRASSINGTON, Anna E; BAYRAK-TOYDEMIR, Pinar et al.American journal of human genetics. 2006, Vol 79, Num 5, pp 935-941, issn 0002-9297, 7 p.Article

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeTOYDEMIR, Reha M; RUTHERFORD, Ann; WHITBY, Frank G et al.Nature genetics. 2006, Vol 38, Num 5, pp 561-565, issn 1061-4036, 5 p.Article

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