Michael Gabbett

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Ryan TaftVice President Scientific Research, Illumina Inc.Verified email at illumina.com
Cas SimonsMurdoch Childrens Research InstituteVerified email at mcri.edu.au
Alain VERLOESProfesseur de Génétique, Faculté de Médecine , Université de ParisVerified email at aphp.fr
Joanna CrawfordInstitute for Molecular Bioscience, The University of QueenslandVerified email at uq.edu.au
Glenn F. KingProfessor, Institute for Molecular BioscienceVerified email at imb.uq.edu.au
Lachlan D. RashAssociate Professor, School of Biomedical Sciences, The University of QueenslandVerified email at uq.edu.au
Adnan YÜKSELProfessor of Pediatric Neurology, School of Medicine, Biruni UniversityVerified email at biruni.edu.tr
Gregory J BaillieInstitute for Molecular Bioscience, University of QueenslandVerified email at uq.edu.au
Prof. Sean M. GrimmondThe University of Melbourne Centre for Cancer ResearchVerified email at unimelb.edu.au
Ben Cristofori-ArmstrongThe University of QueenslandVerified email at uqconnect.edu.au
YASEMIN ALANAYACIBADEM MEHMET ALI AYDINLAR UNIVERSITY, Professor of Pediatrics & GeneticsVerified email at acibadem.edu.tr
Marcel MannensHoogleraar genoomdiagnostiek in het bijzonder epigenetica van ziektenVerified email at amsterdamumc.nl
Johannes ZschockeVerified email at i-med.ac.at
Andrew WilkieUniversity of OxfordVerified email at imm.ox.ac.uk
Gareth BaynamClinical Professor, Faculty of Medicine and Health Sciences, University of WesternVerified email at health.wa.gov.au
Peiyong JiangAssociate Professor, Department of Chemical Pathology, The Chinese University of Hong KongVerified email at cuhk.edu.hk
Nicholas M FiskDeputy Vice Chancellor (Research & Enterprise), University of New South WalesVerified email at unsw.edu.au
Grant MontgomeryProfessorial Research Fellow, Institute for Molecular Bioscience, The University of QueenslandVerified email at uq.edu.au
adrian mackenzieSociology, The Australian National UniversityVerified email at anu.edu.au
Ryan J MillsSenior Lecturer, School of Medicine, University of QueenslandVerified email at optusnet.com.au

Michael Gabbett

Queensland University of Technology

Verified email at qut.edu.au - Homepage

Clinical Genetics


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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ... JCI insight 1 (9), 2016	160	2016
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy C Simons, LD Rash, J Crawford, L Ma, B Cristofori-Armstrong, D Miller, ... Nature genetics 47 (1), 73-77, 2015	146	2015
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations JJ Johnston, JC Sapp, JT Turner, D Amor, S Aftimos, KA Aleck, M Bocian, ... Human mutation 31 (10), 1142-1154, 2010	142	2010
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy IT Zaharieva, MG Thor, EC Oates, C Van Karnebeek, G Hendson, E Blom, ... Brain 139 (3), 674-691, 2016	117	2016
Mutation update for the PORCN gene MP Lombardi, S Bulk, J Celli, A Lampe, MT Gabbett, LB Ousager, ... Human mutation 32 (7), 723-728, 2011	77	2011
Further delineation of the KAT6B molecular and phenotypic spectrum T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ... European Journal of Human Genetics 23 (9), 1165-1170, 2015	62	2015
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients T Roscioli, G Elakis, TC Cox, DJ Moon, H Venselaar, AM Turner, T Le, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2013	62	2013
Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency S Vavassori, J Chou, LE Faletti, V Haunerdinger, L Opitz, P Joset, ... Journal of Allergy and Clinical Immunology, 2021	48	2021
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome AF Baas, M Gabbett, M Rimac, M Kansikas, M Raphael, RAJ Nievelstein, ... European journal of human genetics 21 (1), 55-61, 2013	46	2013
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense‐mediated mRNA decay D Jenkins, G Baynam, L De Catte, N Elcioglu, MT Gabbett, L Hudgins, ... Human mutation 32 (4), E2069-E2078, 2011	45	2011
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations E Lee, T Le, Y Zhu, G Elakis, A Turner, W Lo, H Venselaar, ... Genetics in Medicine 20 (9), 1061-1068, 2018	41	2018
Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning MT Gabbett, J Laporte, R Sekar, A Nandini, P McGrath, Y Sapkota, ... New England Journal of Medicine 380 (9), 842-9, 2019	39	2019
Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism RH Hämäläinen, D Mowat, MT Gabbett, TA O’brien, J Kallijärvi, ... Clinical genetics 70 (6), 473-479, 2006	30	2006
Characterizing the oculoauriculofrontonasal syndrome MT Gabbett, SP Robertson, R Broadbent, S Aftimos, R Sachdev, ... Clinical Dysmorphology 17 (2), 79-85, 2008	28	2008
Prader–Willi syndrome phenocopy due to duplication of Xq21. 1–q21. 31, with array CGH of the critical region MT Gabbett, GB Peters, JM Carmichael, AP Darmanian, FA Collins Clinical genetics 73 (4), 353-359, 2008	26	2008
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis MB Delatycki, J Burke, L Christie, F Collins, M Gabbett, P George, E Haan, ... Twin Research and Human Genetics 17 (6), 578-583, 2014	19	2014
A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome) MT Gabbett, RC Clark, JM McGaughran American Journal of Medical Genetics Part A 146 (4), 450-452, 2008	16	2008
Characteristics of Queensland physicians and the influence of rural exposure on practice location CE Runge, A MacKenzie, C Loos, M Waller, M Gabbett, R Mills, D Eley Internal Medicine Journal 46 (8), 981-985, 2016	14	2016
Temple-Baraitser syndrome: a rare and possibly unrecognized condition A Jacquinet, M Gerard, MT Gabbett, L Rausin, JP Misson, B Menten, ... Am J Med Genet A . 152 (9), 2322-6, 2010	14	2010
Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome J Crawford, NI Bower, BM Hogan, RJ Taft, MT Gabbett, J McGaughran, ... American Journal of Medical Genetics Part A 170 (10), 2694-2697, 2016	13	2016

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