Ingrid P.C. Krapels

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze et al. · Nature Genetics · 2012 · 419 citations

Compound Inheritance, Mendelian Disorder, Genetic Disorder +8

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong et al. · The American Journal of Human Genetics · 2014 · 214 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

Job A.J. Verdonschot, Marco Merlo, Fernándo Domínguez et al. · European Heart Journal · 2020 · 116 citations · Full text

Maternal Nutritional Status and the Risk for Orofacial Cleft Offspring in Humans

Ingrid P.C. Krapels, Iris A.L.M. van Rooij, Marga C. Ocké et al. · Journal of Nutrition · 2004 · 114 citations · Full text

Nutrition, Developmental Biology, Craniofacial Disorder +14

Implications of Genetic Testing in Dilated Cardiomyopathy

Job A.J. Verdonschot, Mark R. Hazebroek, Ingrid P.C. Krapels et al. · Circulation Genomic and Precision Medicine · 2020 · 113 citations · Full text