Robert‐Jan H. Galjaard

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Toshinobu Matsuura, James S. Sutcliffe, Ping Fang et al. · Nature Genetics · 1997 · 875 citations

Life Sciences, Genetics, Molecular Genetics +13

PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36

Cornelia M. van Duijn, Marieke Dekker, Vincenzo Bonifati et al. · The American Journal of Human Genetics · 2001 · 384 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

Dick Oepkes, Godelieve C.M.L. Page‐Christiaens, Caroline J. Bax et al. · Prenatal Diagnosis · 2016 · 155 citations · Full text

Medicine, Maternal Health, Obstetrics +17

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Diane Van Opstal, Merel C. van Maarle, Klaske D. Lichtenbelt et al. · Genetics in Medicine · 2017 · 118 citations · Full text

Life Sciences, Genetics, Obstetrics +17

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

Malgorzata I. Srebniak, Marjan Boter, Grétel Oudesluijs et al. · European Journal of Human Genetics · 2011 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17