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Kate Gibson

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
2006 · Marco Tartaglia, Len A Pennacchio, et al. · Nature Genetics · 587
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Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Ernest Turro, William J. Astle, et al. · Nature · 568
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Germline selection shapes human mitochondrial DNA diversity
2019 · Wei Wei, Salih Tuna, et al. · Science · 236
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
2014 · Margaret J. McMillin, Anita E. Beck, et al. · The American Journal of Human Genetics · 215
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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
2018 · Patricia Heyn, Clare V. Logan, et al. · Nature Genetics · 153
Clinical and genetic aspects of KBG syndrome
2016 · Karen Low, Tazeen Ashraf, et al. · American Journal of Medical Genetics Part A · 132
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Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome
2004 · S.M. White, S.M. White, et al. · American Journal of Medical Genetics Part A · 103
Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses
2008 · Kate Gibson, Jane L. Halliday, et al. · PEDIATRICS · 86
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
2008 · Thomas E Neumann, Judith Allanson, et al. · European Journal of Human Genetics · 80
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Prenatal diagnosis of mosaic trisomy 20 in New Zealand
2002 · Paul A James, Kate Gibson, et al. · Australian and New Zealand Journal of Obstetrics and Gynaecology · 79
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
2009 · Bregje WM van Bon, David A Koolen, et al. · European Journal of Human Genetics · 78
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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
2019 · Futoshi Sekiguchi, Yoshinori Tsurusaki, et al. · Journal of Human Genetics · 74
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes
2022 · Paul Bastard, Kuang-Chih Hsiao, et al. · The Journal of Experimental Medicine · 69
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
2008 · Céline Huber, Anee-Lise Delezoide, et al. · European Journal of Human Genetics · 61
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Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients
2013 · T. Roscioli, G. Elakis, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 53
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X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations
2011 · Joanna McCauley, Navta Masand, et al. · American Journal of Medical Genetics Part A · 51
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
2017 · Eric Lee, Trang Le, et al. · Genetics in Medicine · 41
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Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin
2012 · Wayne I.L. Davies, Susan M. Downes, et al. · Genetics in Medicine · 35
Novel SOX2 partner-factor domain mutation in a four-generation family
2009 · Marija Mihelec, Peter Abraham, et al. · European Journal of Human Genetics · 31
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
2024 · Erin Thorpe, Taylor Williams, et al. · The American Journal of Human Genetics · 25
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The Importance of Liver Biopsy in the Investigation of Possible Mitochondrial Respiratory Chain Disease
2005 · J. Panetta, K. Gibson, et al. · Neuropediatrics · 25
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
2012 · Lingli Huang, Gemma Poke, et al. · American Journal of Medical Genetics Part A · 21
Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy
2018 · R. J. McKinlay Gardner, Ian G. Crozier, et al. · Molecular Genetics & Genomic Medicine · 19
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GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia
2020 · Sarah A. Howles, Caroline M. Gorvin, et al. · Journal of Bone and Mineral Research · 17
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Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome
2022 · Shannon Carter, Bridget J. Fellows, et al. · European Journal of Human Genetics · 10
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Works count: 39
Citation count: 2,875
H-index: 21
I10-index: 25
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