Frits A. Beemer

Frits A. Beemer publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Frits A. Beemer sits on this spectrum.

Frits A. Beemer D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Frits A. Beemer sits on this spectrum.

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