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European Journal of Human Genetics : EJHG|March 10, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial cleftingKriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, et al.Frontiers in Pediatrics|October 14, 2022
Genome-wide association study in patients with posterior urethral valvesLoes F M van der Zanden, Carlo Maj, Oleg Borisov, et al.Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.European Urology Open Science|August 2, 2021
<i>CDH12</i> as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive UropathiesLoes F M van der Zanden, Iris A L M van Rooij, Josine S L T Quaedackers, et al.Nature Genetics|December 17, 2008
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesityGudmar Thorleifsson, G Bragi Walters, Daniel F Gudbjartsson, et al.Kidney International|October 22, 2015
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUTNayia Nicolaou, Sara L Pulit, Isaac J Nijman, et al.Plos One|May 29, 2019
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformationsRomy van de Putte, Charlotte H W Wijers, Heiko Reutter, et al.Journal of Medical Genetics|March 5, 2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMiriam Schmidts, Heleen H Arts, Ernie M H F Bongers, et al.Birth Defects Research|April 23, 2020
Maternal risk factors for the VACTERL association: A EUROCAT case-control studyRomy van de Putte, Iris A L M van Rooij, Cynthia P Haanappel, et al.Pediatric Research|September 10, 2019
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based studyRomy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, et al.Pageof 16