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Attitudes Toward Prenatal Genetic Testing for Treacher Collins Syndrome Among Affected Individuals and FamiliesWU, Rebecca L; LAWSON, Cathleen S; WANG JABS, Ethylin et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1556-1567, issn 1552-4825, 12 p.Article

A novel heterozygous deletion in the EVC2gene causes Weyers acrofacial dysostosisXIAOQIAN YE; GUANGTAI SONG; MINGWEN FAN et al.Human genetics. 2006, Vol 119, Num 1-2, pp 199-205, issn 0340-6717, 7 p.Article

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HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1^―/― MiceWEBB, Bryn D; SHAABAN, Sherin; OYSTRECK, Darren T et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 171-179, issn 0002-9297, 9 p.Article

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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

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesionVEGA, Hugo; WAISFISZ, Quinten; WANG JABS, Ethylin et al.Nature genetics. 2005, Vol 37, Num 5, pp 468-470, issn 1061-4036, 3 p.Article

OTX2 mutations contribute to the otocephaly-dysgnathia complexCHASSAING, Nicolas; SORRENTINO, Susanna; VIGOUROUX, Adeline et al.Journal of medical genetics. 2012, Vol 49, Num 6, pp 373-379, issn 0022-2593, 7 p.Article

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9JUSTICE, Cristina M; YAGNIK, Garima; KIMONIS, Virginia et al.Nature genetics. 2012, Vol 44, Num 12, pp 1360-1364, issn 1061-4036, 5 p.Article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityGORDILLO, Miriam; VEGA, Hugo; GIOVANNUCCI UZIELLI, Maria L et al.Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2172-2180, issn 0964-6906, 9 p.Article

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndromeXIULI ZHAO; MIAO SUN; LO, Wilson H. Y et al.American journal of human genetics. 2007, Vol 80, Num 2, pp 361-371, issn 0002-9297, 11 p.Article

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patientsSARQUIS JEHEE, Fernanda; ALONSO, Luis G; PASSOS-BUENO, Maria Rita et al.The Cleft palate-craniofacial journal. 2006, Vol 43, Num 2, pp 148-151, issn 1055-6656, 4 p.Article

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial AnomaliesKIM, Hyung-Goo; KIM, Hyun-Taek; TALKOWSKI, Michael E et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 56-72, issn 0002-9297, 17 p.Article

Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populationsINGERSOLL, Roxann G; HETMANSKI, Jacqueline; JAE WOONG SULL et al.European journal of human genetics. 2010, Vol 18, Num 6, pp 726-732, issn 1018-4813, 7 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

Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndromeGRIFFITH, Andrew J; YANDAN YANG; MERCHANT, Saumil N et al.The Laryngoscope. 2006, Vol 116, Num 8, pp 1404-1408, issn 0023-852X, 5 p.Article

Gene expression in pharyngeal arch 1 during human embryonic developmentJUANLIANG CAI; ASH, David; TIDWELL, Rose et al.Human molecular genetics (Print). 2005, Vol 14, Num 7, pp 903-912, issn 0964-6906, 10 p.Article