Ernie M.H.F. Bongers

Overview

Best Publications

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  852
  Citations

• Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

  Mark E. Lindsay;Dorien Schepers;Nikhita Ajit Bolar;Jefferson J. Doyle

  467
  Citations

• Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

  Stefan H Lelieveld;Margot R F Reijnders;Rolph Pfundt;Helger G Yntema

  464
  Citations

• Genetic, environmental, and epigenetic factors involved in CAKUT

  Nayia Nicolaou;Kirsten Y Renkema;Ernie M H F Bongers;Rachel H Giles

  327
  Citations

• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

  B W M van Bon;H C Mefford;B Menten;D A Koolen

  314
  Citations

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin

  295
  Citations

• Mutations in the pre-replication complex cause Meier-Gorlin syndrome

  Louise S Bicknell;Ernie M H F Bongers;Andrea Leitch;Stephen Brown

  267
  Citations

• Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

  David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen

  240
  Citations

• Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

  Nathalie Van der Aa;Liesbeth Rooms;Geert Vandeweyer;Jenneke van den Ende

  227
  Citations

• Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature.

  Annet P. M. van den Elzen;Ben A. Semmekrot;Ernie M. H. F. Bongers;Patrick L. M. Huygen

  221
  Citations

• C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

  Heleen H Arts;Ernie M H F Bongers;Dorus A Mans;Sylvia E C van Beersum

  196
  Citations

• TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

  Wilhelmina S Kerstjens-Frederikse;Ernie M H F Bongers;Marcus T R Roofthooft;Edward M Leter

  193
  Citations

• Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

  Ernie M.H.F. Bongers;Pascal H.G. Duijf;Sylvia E.M. van Beersum;Jeroen Schoots

  192
  Citations

• Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

  A. C. Houweling;L. M. Gijezen;M. A. Jonker;M. B. A. van Doorn

  180
  Citations

• Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

  Ernie M H F Bongers;Frans T Huysmans;Elena Levtchenko;Jacky W de Rooy

  179
  Citations

• Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

  Miriam Schmidts;Heleen H Arts;Ernie M H F Bongers;Zhimin Yap

  154
  Citations

• Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

  Kirsten Y. Renkema;Paul J. Winyard;Ilya N. Skovorodkin;Elena Levtchenko

  151
  Citations

• Common variants in DGKK are strongly associated with risk of hypospadias

  Loes F M van der Zanden;Iris A L M van Rooij;Wout F J Feitz;Jo Knight;Jo Knight

  142
  Citations

• CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

  Yvonne Schulz;Peter Wehner;Lennart Opitz;Gabriela Salinas-Riester

  123
  Citations

• Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

  Janneke H M Schuurs-Hoeijmakers;Anneke T Vulto-van Silfhout;Lisenka E L M Vissers;Ilse I G M van de Vondervoort

  123
  Citations