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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2022
Damaging variants in FOXI3 cause microtia and craniofacial microsomiaDaniel Quiat, Andrew T Timberlake, Justin J Curran, et al.Nature Genetics|June 26, 2012
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CAMarjorie J Lindhurst, Victoria E R Parker, Felicity Payne, et al.Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Genotype-phenotype analysis of the branchio-oculo-facial syndromeJeff M Milunsky, Tom M Maher, Geping Zhao, et al.Genome Biology|September 16, 2011
Mutation discovery in mice by whole exome sequencingHeather Fairfield, Griffith J Gilbert, Mary Barter, et al.Nature Genetics|November 20, 2012
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9Cristina M Justice, Garima Yagnik, Yoonhee Kim, et al.Toxicological Sciences : an Official Journal of the Society of Toxicology|June 15, 2007
Multicenter study of acetaminophen hepatotoxicity reveals the importance of biological endpoints in genomic analysesRichard P Beyer, Rebecca C Fry, Michael R Lasarev, et al.Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.Human Genetics|April 9, 2020
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosisCristina M Justice, Araceli Cuellar, Krithi Bala, et al.Pageof 16