Bronwyn Kerr

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