Inge B. Mathijssen

A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation

Alex V. Postma, Judith B.A. van de Meerakker, Inge B. Mathijssen et al. · Circulation Research · 2008 · 184 citations

Systems Biology, Engineering, Family Members +14

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

Ellen A. Croonen, Willy M. Nillesen, Kyra E. Stuurman et al. · European Journal of Human Genetics · 2013 · 141 citations · Full text

Developmental Anomaly, Abnormal Ultrasound Findings, Noonan Syndrome Genes +7

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho et al. · Genetics in Medicine · 2016 · 116 citations · Full text

Schaaf-yang Syndrome, Autoimmune Disease, Genetic Disorder +8

Further delineation of Malan syndrome

Manuela Priolo, Denny Schanze, Katrin Tatton-Brown et al. · Human Mutation · 2018 · 75 citations · Full text