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European Journal of Oral Sciences|February 4, 2010
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palateStefanie Birnbaum, Kerstin U Ludwig, Heiko Reutter, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|October 20, 2012
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palateEntessar Nasser, Elisabeth Mangold, Daniela C Tradowsky, et al.
Molecular Cytogenetics|October 1, 2015
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Julia K Ehret, Hartmut Engels, Kirsten Cremer, et al.
Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.
Birth Defects Research|March 3, 2018
Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sampleNina Ishorst, Paola Francheschelli, Anne C Böhmer, et al.
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
Genetics|May 6, 2014
Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral cleftsAlexandre Bureau, Margaret M Parker, Ingo Ruczinski, et al.
European Journal of Human Genetics : EJHG|December 20, 2024
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish modelsNina Ishorst, Selina Hölzel, Carola Greve, et al.
Nature Communications|February 25, 2017
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneityYanqin Yu, Xianbo Zuo, Miao He, et al.
American Journal of Human Genetics|February 8, 2011
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafishMichella Ghassibe-Sabbagh, Laurence Desmyter, Tobias Langenberg, et al.
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