Frits A. Beemer

Overview

Best Publications

• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

  A K Ryan;J A Goodship;D I Wilson;N Philip

  1310
  Citations

• Identification of the familial cylindromatosis tumour-suppressor gene.

  Graham R. Bignell;William Warren;Sheila Seal;Meiko Takahashi

  833
  Citations

• MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.

  M.-J. H. Van Den Boogaard;M. Dorland;F. A. Beemer;H. K. P. Van Amstel

  775
  Citations

• p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

  Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  429
  Citations

• The 22q11.2 Deletion in Children: High Rate of Autistic Disorders and Early Onset of Psychotic Symptoms.

  Jacob A.S. Vorstman;Monique E.J. Morcus;Sasja N. Duijff;Petra W.J. Klaassen

  426
  Citations

• Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

  Claire L. Navarro;Annachiara De Sandre-Giovannoli;Rafaëlle Bernard;Irène Boccaccio

  424
  Citations

• Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.

  Mgem Ausems;J Verbiest;J Verbiest;Mmp Hermans;Mmp Hermans;MA Kroos

  391
  Citations

• Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

  Claire L. Navarro;Juan Cadiñanos;Annachiara De Sandre-Giovannoli;Rafaëlle Bernard

  338
  Citations

• Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.

  A. B. van Kuilenburg;P. Vreken;N. G. Abeling;H. D. Bakker

  333
  Citations

• Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

  Martin Zenker;Julia Mayerle;Markus M Lerch;Andreas Tagariello

  286
  Citations

• tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

  Birgit S. Budde;Yasmin Namavar;Peter G. Barth;Bwee Tien Poll-The

  265
  Citations

• Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

  Frances R. Goodman;Chiara Bacchelli;Angela F. Brady;Louise A. Brueton

  262
  Citations

• Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor

  Jean L. Johnson;William R. Waud;K. V. Rajagopalan;Marinus Duran

  204
  Citations

• Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

  Jan Hellemans;Paul J. Coucke;Andres Giedion;Anne De Paepe

  161
  Citations

• Gene-network analysis identifies susceptibility genes related to glycobiology in autism.

  Bert van der Zwaag;Lude Franke;Lude Franke;Martin Poot;Ron Hochstenbach

  158
  Citations

• Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

  Kristien P Hoornaert;Inge Vereecke;Chantal Dewinter;Thomas Rosenberg

  148
  Citations

• Clinical and mutational spectrum of Mowat-Wilson syndrome

  Christiane Zweier;Christian T Thiel;Andreas Dufke;Yanick J Crow

  148
  Citations

• Pediatric generalized joint hypermobility with and without musculoskeletal complaints: a localized or systemic disorder?

  Raoul H. H. Engelbert;Ruud A. Bank;Ralph J. B. Sakkers;Paul J. M. Helders

  141
  Citations

• Cognitive development in children with 22q11.2 deletion syndrome

  Sasja N. Duijff;Petra W. J. Klaassen;Henriette F. N. Swanenburg de Veye;Frits A. Beemer

  122
  Citations

• Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.

  Emma van Daalen;Chantal Kemner;Nienke E. Verbeek;Bert van der Zwaag

  113
  Citations