K. Gibson

发表

A pilot study of exome sequencing in a diverse New Zealand cohort with undiagnosed disorders and cancer

S. Robertson, C. Print, C. Blenkiron, 2018 .

Novel SOX2 partner-factor domain mutation in a four-generation family

G. Gole, P. Tam, J. Grigg, 2009, European Journal of Human Genetics.

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

J. Allanson, M. Tartaglia, B. Kerr, 2009, European Journal of Human Genetics.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

Consuelo D. Quinto-Cortés, D. Weeks, E. Hagelberg, 2022, The Journal of experimental medicine.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

Detection of sudden death syndromes in New Zealand.

M. Stiles, D. Love, I. Hayes, 2016, The New Zealand medical journal.

Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses

D. Thorburn, A. Boneh, J. Yaplito-Lee, 2008, Pediatrics.

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

E. Haan, M. Delatycki, A. Bankier, 2004, American journal of medical genetics. Part A.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome

L. Bicknell, K. Gibson, Shan Carter, 2022, European Journal of Human Genetics.

The Importance of Liver Biopsy in the Investigation of Possible Mitochondrial Respiratory Chain Disease

D. Thorburn, A. Boneh, D. Kirby, 2005, Neuropediatrics.

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

R. Copley, R. Foster, M. Hankins, 2012, Genetics in Medicine.

A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability

J. Gécz, G. Poke, K. Gibson, 2012, American journal of medical genetics. Part A.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Wendy Schackwitz, Claudio Carta, Bruno Dallapiccola, 2006, Nature Genetics.

X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations

S. Holden, R. McGowan, A. Hunter, 2011, American journal of medical genetics. Part A.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Prenatal diagnosis of mosaic trisomy 20 in New Zealand

K. Gibson, P. James, J. McGaughran, 2002, The Australian & New Zealand journal of obstetrics & gynaecology.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy

J. C. Jacobsen, J. Skinner, R. Snell, 2018, Molecular genetics & genomic medicine.

Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

R. Pfundt, M. Fichera, C. Romano, 2010, European Journal of Human Genetics.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.