Bronwyn Kerr

Bronwyn Kerr publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Bronwyn Kerr sits on this spectrum.

Bronwyn Kerr D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Bronwyn Kerr sits on this spectrum.

Overview

Best Publications

• Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

  Edward Blair;Charles Redwood;Houman Ashrafian;Marisa Oliveira

  713
  Citations

• Evidence for 28 genetic disorders discovered by combining healthcare and research data

  J Kaplanis;K E Samocha;L Wiel;Z Zhang

  473
  Citations

• High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

  Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  466
  Citations

• An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

  M. Upadhyaya;S. M. Huson;M. Davies;N. Thomas

  440
  Citations

• Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

  Johannes G. Dauwerse;Jill Dixon;Saskia Seland;Claudia A L Ruivenkamp

  415
  Citations

• Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

  J.H.L.M. van Bokhoven;J. Celli;H. Kayserili;E. van Beusekom

  317
  Citations

• Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

  Robyn V. Jamieson;Rahat Perveen;Bronwyn Kerr;Martin Carette

  298
  Citations

• Angelman syndrome phenotype associated with mutations in MECP2 , a gene encoding a methyl CpG binding protein

  Pamela Watson;Graeme Black;Simon Ramsden;Margaret Barrow

  294
  Citations

• Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

  Patrick S. Tarpey;F. Lucy Raymond;Sarah O’Meara;Sarah Edkins

  290
  Citations

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  274
  Citations

• Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

  Lesley McGregor;Vile Makela;Susan M. Darling;Susan M. Darling;Sofia Vrontou

  272
  Citations

• Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

  B. Kerr;M. A. Delrue;S. Sigaudy;R. Perveen

  250
  Citations

• Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

  Karen M Lower;Karen M Lower;Gillian Turner;Bronwyn A Kerr;Katherine D Mathews

  234
  Citations

• Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

  Jill Clayton-Smith;James O'Sullivan;Sarah Daly;Sanjeev Bhaskar

  230
  Citations

• How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

  Siddharth Banka;Ratna Veeramachaneni;William Reardon;Emma Howard

  203
  Citations

• Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

  F. Lucy Raymond;Patrick S. Tarpey;Sarah Edkins;Calli Tofts

  201
  Citations

• Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

  Edward Blair;Charles Redwood;Houman Ashrafian;Marisa Oliveira

  183
  Citations

• The genetic basis of DOORS syndrome: an exome-sequencing study.

  Philippe M. Campeau;Dalia Kasperaviciute;James T. Lu;Lindsay C. Burrage

  181
  Citations

• Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

  J Clayton-Smith;B Kerr;H Brunner;L Tranebjaerg

  168
  Citations

• Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

  Gillian Turner;Michael Partington;Bronwyn Kerr;Marie Mangelsdorf;Marie Mangelsdorf

  161
  Citations