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Bruce Bennetts

Observed names: B BENNETTS, B Bennetts, B H Bennetts, B. Bennetts, B. H. Bennetts, B.H. Bennetts, BRUCE H. BENNETTS, Bennetts Bruce, Bennetts, Bruce, Bruce BENNETTS, Bruce H Bennetts, Bruce H. Bennetts
Observed institutions: The University of Sydney, Children's Medical Research Institute, Royal Prince Alfred Hospital, Children's Hospital at Westmead, Westmead Hospital, Humboldt-Universität zu Berlin, University Hospital of Geneva, International Society for Quality in Health Care, Sydney Children's Hospital, Sydney Children’s Hospitals Network, Murdoch Children's Research Institute, Australian Genomics Health Alliance, NSW Health Pathology, Neuroscience Research Australia
ORCID: 0000-0001-5598-0278
Observed ORCID: 0000-0001-5598-0278
OpenAlex ID: A5045929175
Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation
2004 · Linda S. Weaving, John Christodoulou, et al. · The American Journal of Human Genetics · 502
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HIV-1 infection in an individual homozygous for the CCR5 deletion allele
1997 · Robyn Biti, Rosemary Ffrench, et al. · Nature Medicine · 352
Primary Structure of a Human Glandular Kallikrein Gene
1987 · LYNETTE J. SCHEDLICH, BRUCE H. BENNETTS, et al. · DNA · 293
Guidelines for the genetic diagnosis of hereditary recurrent fevers
2012 · Y Shinar, L Obici, et al. · Annals of the Rheumatic Diseases · 201
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Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms
2018 · Thomas A. Forbes, Sara E. Howden, et al. · The American Journal of Human Genetics · 194
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RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution
2003 · John Christodoulou, Andrew Grimm, et al. · Human Mutation · 170
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
2019 · Justyna A. Karolak, Marie Vincent, et al. · The American Journal of Human Genetics · 165
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The clinical phenotype of mosaicism for genome‐wide paternal uniparental disomy: Two new reports
2007 · Meredith Wilson, Gregory Peters, et al. · American Journal of Medical Genetics Part A · 142
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing
2015 · Alan S. Ma, John R. Grigg, et al. · Human Mutation · 133
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Karyotype, phenotype and parental origin in 19 cases of triploidy
2001 · Art Daniel, Zhanhe Wu, et al. · Prenatal Diagnosis · 130
Effects ofMECP2mutation type, location and X‐inactivation in modulating Rett syndrome phenotype
2002 · Linda S. Weaving, Sarah L. Williamson, et al. · American Journal of Medical Genetics Part A · 114
The CCR5 Deletion Mutation Fails to Protect Against Multiple Sclerosis
1997 · Bruce H Bennetts, Suzy M Teutsch, et al. · Human Immunology · 111
Increased frequency of CCR-5 Δ32 heterozygotes among long-term non-progressors with HIV-1 infection
1997 · Graeme J. Stewart, Lesley J. Ashton, et al. · AIDS · 105
Identification of 11 novel and common single nucleotide polymorphisms in the interleukin-7 receptor-α gene and their associations with multiple sclerosis
2003 · Suzy M Teutsch, David R Booth, et al. · European Journal of Human Genetics · 99
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
2017 · Andrew J. Mallett, Hugh J. McCarthy, et al. · Kidney International · 98
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 97
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.
2015 · Benjamin M Nash, Dale C Wright, et al. · PubMed · 94
FBN1, TGFBR1, and the Marfan‐craniosynostosis/mental retardation disorders revisited
2006 · L.C. Adès, K. Sullivan, et al. · American Journal of Medical Genetics Part A · 91
Medium-chain acyl-CoA dehydrogenase deficiency: Genotype–biochemical phenotype correlations
2005 · Leigh Waddell, Veronica Wiley, et al. · Molecular Genetics and Metabolism · 91
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy
2018 · Kavitha Kothur, Katherine Holman, et al. · Seizure · 77
Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathy
2003 · Andrew Biggin, Katherine Holman, et al. · Human Mutation · 77
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Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region
2002 · R E Urwin, B Bennetts, et al. · Molecular Psychiatry · 76
Nationwide, Couple-Based Genetic Carrier Screening
2024 · Edwin P. Kirk, Martin B. Delatycki, et al. · New England Journal of Medicine · 75
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Ectopia lentis phenotypes and the FBN1 gene
2003 · Lesley C. Adès, Katherine J. Holman, et al. · American Journal of Medical Genetics Part A · 74
Data-driven consideration of genetic disorders for global genomic newborn screening programs
2025 · Thomas Minten, Sarah Bick, et al. · Genetics in Medicine · 73
Works count: 162
Citation count: 5,799
H-index: 42
I10-index: 91
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