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American Journal of Human Genetics|February 12, 2005
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema, Stefan J White, Yavuz Ariyürek, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.
American Journal of Human Genetics|January 1, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaCéline Huber, Eissa Ali Faqeih, Deborah Bartholdi, et al.
American Journal of Medical Genetics. Part A|January 20, 2007
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathiesMarja Majava, Kristien P Hoornaert, Deborah Bartholdi, et al.
Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 30, 2020
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadismJames S Acierno, Cheng Xu, Georgios E Papadakis, et al.
Annals of Neurology|November 26, 2013
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsyJohannes R Lemke, Rik Hendrickx, Kirsten Geider, et al.
Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.
Nature Genetics|February 26, 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformationsSheila Unger, Detlef Böhm, Frank J Kaiser, et al.
Prenatal Diagnosis|June 13, 2014
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic powerBeatrice Oneda, Rosa Baldinger, Regina Reissmann, et al.
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