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M. Hunter · SciRah

Researcher profile · Semantic Scholar

M. Hunter

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M. Hunter — researcher profile on SciRah

h-index: 22
Works: 47
Citations: 2,650

Most-cited papers

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
G. Rice, J. Bond, A. Asipu, Rebecca L. Brunette +47 more
2009Nature Genetics715 citations Open access
Semantic Scholar
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S. Eggers, S. Sadedin, J. van den Bergen, G. Robevska +69 more
2016Genome Biology299 citations Open access
Semantic Scholar
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
S. Lunke, S. Eggers, M. Wilson, C. Patel +62 more
2020Journal of the American Medical Association (JAMA)213 citations Open access
Semantic Scholar
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Zornitza Stark, S. Lunke, Gemma R. Brett, N. B. Tan +19 more
2018Genetics in Medicine188 citations Open access
Semantic Scholar
Phenotypic insights into ADCY5‐associated disease
F. Chang, A. Westenberger, R. Dale, Martin Smith +21 more
2016Movement Disorders121 citations Open access
Semantic Scholar
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
K. Jayasinghe, Zornitza Stark, P. Kerr, C. Gaff +26 more
2020Genetics in Medicine112 citations Open access
Semantic Scholar
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
K. Tatton-Brown, Anna Zachariou, C. Loveday, A. Renwick +45 more
2018Wellcome Open Research99 citations Open access
Semantic Scholar
FOXP1 mutations cause intellectual disability and a recognizable phenotype
Anna Le Fevre, S. Taylor, Neva H. Malek, D. Horn +9 more
2013American Journal of Medical Genetics. Part A98 citations
Semantic Scholar
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
D. Bruno, D. Ganesamoorthy, J. Schoumans, A. Bankier +23 more
2008Journal of Medical Genetics92 citations
Semantic Scholar
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
N. B. Tan, Rachel Stapleton, Zornitza Stark, M. Delatycki +16 more
2020Molecular Genetics & Genomic Medicine90 citations Open access
Semantic Scholar
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Raman Kumar, M. Corbett, B. V. van Bon, J. A. Woenig +27 more
2015American Journal of Human Genetics75 citations Open access
Semantic Scholar
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
L. Downie, J. Halliday, R. Burt, S. Lunke +15 more
2019European Journal of Human Genetics67 citations Open access
Semantic Scholar
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
A. Jeffries, R. Maroofian, C. Salter, B. Chioza +22 more
2018bioRxiv52 citations Open access
Semantic Scholar
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Emma K. Baker, Marta Arpone, S. A. Vera, L. Bretherton +19 more
2019Journal of Neurodevelopmental Disorders37 citations Open access
Semantic Scholar
Alpers syndrome with mutations in POLG: clinical and investigative features.
M. Hunter, H. Peters, R. Salemi, D. Thorburn +1 more
2011Pediatric Neurology33 citations
Semantic Scholar
EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome
S. Griffiths, C. Loveday, Anna Zachariou, L. Behan +14 more
2019American Journal of Medical Genetics. Part A30 citations
Semantic Scholar
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Emma K. Baker, Marta Arpone, S. Aliaga, L. Bretherton +20 more
2019Molecular Autism29 citations Open access
Semantic Scholar
Maternal attitudes to newborn screening for fragile X syndrome
L. Christie, Tiffany L Wotton, B. Bennetts, V. Wiley +8 more
2013American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
A. Yeung, N. B. Tan, T. Tan, Zornitza Stark +23 more
2020Genetics in Medicine28 citations Open access
Semantic Scholar
Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report
Y. Hwang, S. Aliaga, M. Arpone, D. Francis +8 more
2016American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33
Ryan N. Traylor, D. Bruno, T. Burgess, R. Wildin +11 more
2010PLoS ONE23 citations Open access
Semantic Scholar
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
Lauren S. Akesson, S. Eggers, Clare J. Love, B. Chong +9 more
2019European Journal of Human Genetics22 citations Open access
Semantic Scholar
Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss
V. Sung, L. Downie, Georgia A. Paxton, Karen Liddle +11 more
2019Journal of Paediatrics and Child Health21 citations Open access
Semantic Scholar
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
Marta Arpone, Emma K. Baker, L. Bretherton, Minh Q. Bui +15 more
2018Scientific Reports18 citations Open access
Semantic Scholar
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort
L. Downie, J. Halliday, R. Burt, S. Lunke +11 more
2017BMJ Paediatrics Open18 citations Open access
Semantic Scholar
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome
Emma K. Baker, Marta Arpone, C. Kraan, Minh Q. Bui +16 more
2020Scientific Reports16 citations Open access
Semantic Scholar
Wilms tumor in patients with osteopathia striata with cranial sclerosis
Alicia Bach, Jingyi Mi, M. Hunter, B. J. Halliday +8 more
2020European Journal of Human Genetics16 citations Open access
Semantic Scholar
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome
C. Kraan, Emma K. Baker, M. Arpone, Minh Q. Bui +11 more
2020International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
A familial 7q36.3 duplication associated with agenesis of the corpus callosum
Keith Wong, R. Moldrich, M. Hunter, M. Edwards +5 more
2015American Journal of Medical Genetics. Part A12 citations
Semantic Scholar
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
Lauren S. Akesson, A. Bournazos, A. Fennell, E. Krzesinski +13 more
2020Human Mutation10 citations Open access
Semantic Scholar
Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency
L. R. Watson, C. Slade, S. Ojaimi, S. Barnes +8 more
2018Allergy, Asthma & Clinical Immunology10 citations Open access
Semantic Scholar
Outfoxed by RBFOX1‐A caution about ascertainment bias
B. Kamien, A. C. Lionel, N. Bain, S. Scherer +1 more
2014American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia.
Hui Peng, Z. Jenkins, Ruby White, S. Connors +6 more
2020Journal of Clinical Endocrinology and Metabolism9 citations Open access
Semantic Scholar
Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction
Yael Prawer, M. Hunter, Sara Cronin, Ling Ling +7 more
2018Genes8 citations Open access
Semantic Scholar
Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate
Lauren S. Akesson, A. Bournazos, A. Fennell, E. Krzesinski +11 more
20205 citations Open access
Semantic Scholar
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Marta Arpone, L. Bretherton, D. Amor, Stephen J. C. Hearps +8 more
2022Research in Developmental Disabilities3 citations
Semantic Scholar
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
Masitah Ibrahim, M. Hunter, L. Gugasyan, Y. Chan +3 more
2017Clinical Case Reports3 citations Open access
Semantic Scholar
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment
M. Hunter, D. Bruno, D. Amor
2009American Journal of Medical Genetics. Part A3 citations
Semantic Scholar
P55: PITFALLS OF IMMUNOTHERAPY: LESSONS FROM A PATIENT WITH CTLA‐4 HAPLOINSUFFICIENCY
Amenze Itoya, Karen Wells, P. Stone, G. Stewart +23 more
2018Internal medicine journal (Print)2 citations Open access
Semantic Scholar
To Treat or Not to Treat: A Therapeutic Dilemma in a Gene Positive, Phenotypic Negative CPVT Woman Throughout Her Pregnancies
E. Kotschet, M. Hunter, A. Kroushev, E. Wallace
20171 citations Open access
Semantic Scholar
A Familial 7 q 36 . 3 Duplication Associated with Agenesis of the Corpus Callosum
Keith Wong, Randal Moldrich, M. Hunter, M. Edwards +5 more
20151 citations
Semantic Scholar
35. : Case report: Concurrent occurrence of Fragile X syndrome and Fragile X associated tremor ataxia syndrome due to CGG repeat and methylation mosaicism
Y. Hwang, R. Heard, M. Hunter
20141 citations
Semantic Scholar
Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care
Lauren S. Akesson, S. Eggers, B. Chong, M. Hunter +8 more
2019Pathology (Sydney)0 citations
Semantic Scholar
A national approach to rapid genomic diagnosis in acute paediatrics
S. Lunke, C. Patel, Michael J. Wilson, J. Pinner +40 more
20190 citations
Semantic Scholar
Rapid genomic testing in acute paediatric care: Is it worth the trouble?
Zornitza Stark, S. Lunke, Gemma R. Brett, N. B. Tan +18 more
20180 citations
Semantic Scholar
Andersen-Tawil Syndrome: Treatment of Bidirectional VT When Beta Blockers Fail to Suppress Arrhythmia
E. Kotschet, S. Healy, M. Hunter
20170 citations
Semantic Scholar
401: Alpers Syndrome with POLG mutations: clinical, EEG and radiological features
M. Hunter, M. Mackay, H. Peters, R. Salemi +1 more
20080 citations
Semantic Scholar

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S. Lunke×15
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S. Lunke — researcher profile on SciRah
D. Amor×14
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Zornitza Stark×11
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T. Tan×9
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M. Martyn — researcher profile on SciRah

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E. Krzesinski — researcher profile on SciRah

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L. Bretherton — researcher profile on SciRah