Author

Alison M. Male

Observed names: A Male, A. Male, A.M. Male, Alison M Male, Alison Male, Male AM, Male, A, Male, Alison, Male, Alison M

Institution: Great Ormond Street Hospital

Observed institutions: University of London, National Health Service, Guy's Hospital, Children's Mercy Hospital, Institute of Cancer Research, Imperial College Healthcare NHS Trust, St George's, University of London, Guy's and St Thomas' NHS Foundation Trust, Royal Devon & Exeter NHS Foundation Trust, Leiden University Medical Center, Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, St George’s University Hospitals NHS Foundation Trust, Royal Devon and Exeter Hospital, Queen Charlotte's and Chelsea Hospital, Exeter Hospital, University College London, University of Missouri–Kansas City

ORCID: 0000-0002-2631-5997

Observed ORCID: 0000-0002-2631-5997

OpenAlex ID: A5086562565

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

2012 · Gillian I Rice, Paul R Kasher, et al. · Nature Genetics · 923

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

2008 · Heather C. Mefford, Andrew J. Sharp, et al. · New England Journal of Medicine · 805

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Evidence for 28 genetic disorders discovered by combining healthcare and research data

2020 · Joanna Kaplanis, Kaitlin E. Samocha, et al. · Nature · 611

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

2015 · Lot Snijders Blok, Erik Madsen, et al. · The American Journal of Human Genetics · 305

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

2017 · Víctor Faundes, William G. Newman, et al. · The American Journal of Human Genetics · 275

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The genetic basis of DOORS syndrome: an exome-sequencing study

2013 · Philippe M Campeau, Dalia Kasperaviciute, et al. · The Lancet Neurology · 225

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Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

2018 · Natalie Chandler, Sunayna Best, et al. · Genetics in Medicine · 165

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

2016 · Przemyslaw Szafranski, Tomasz Gambin, et al. · Human Genetics · 165

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Not all SCN1A epileptic encephalopathies are Dravet syndrome

2017 · Lynette G. Sadleir, Emily I. Mountier, et al. · Neurology · 129

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

2018 · Lot Snijders Blok, Justine Rousseau, et al. · Nature Communications · 120

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

2020 · Ana Rio-Machin, Tom Vulliamy, et al. · Nature Communications · 113

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A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

2015 · Paulien A. Terhal, Rutger Jan A. J. Nievelstein, et al. · American Journal of Medical Genetics Part A · 101

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Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study

2010 · Anita V. Mitra, Elizabeth K. Bancroft, et al. · British Journal of Urology · 101

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

2021 · Elizabeth K Bancroft, Elizabeth C Page, et al. · The Lancet Oncology · 99

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Mutations in ZBTB20 cause Primrose syndrome

2014 · Viviana Cordeddu, Bert Redeker, et al. · Nature Genetics · 97

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

2019 · Anne H. O’Donnell-Luria, Lynn S. Pais, et al. · The American Journal of Human Genetics · 93

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The rs10993994 Risk Allele for Prostate Cancer Results in Clinically Relevant Changes in Microseminoprotein-Beta Expression in Tissue and Urine

2010 · Hayley C. Whitaker, Zsofia Kote-Jarai, et al. · PLoS ONE · 80

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The Phenotypic Continuum of ATP1A3 -Related Disorders

2022 · Aikaterini Vezyroglou, Rhoda Akilapa, et al. · Neurology · 79

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The contribution of X-linked coding variation to severe developmental disorders

2021 · Hilary C. Martin, Eugene J. Gardner, et al. · Nature Communications · 67

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

2019 · Kathleen M. Gorman, Esther Meyer, et al. · The American Journal of Human Genetics · 63

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Brain biochemistry in Duchenne muscular dystrophy: A 1H magnetic resonance and neuropsychological study

1998 · Caroline Rae, Richard B Scott, et al. · Journal of the Neurological Sciences · 63

2020 · Tarishi Nemani, Dora Steel, et al. · Journal of the Peripheral Nervous System · 57

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

2020 · Lisa Lenaerts, Sara Reynhout, et al. · Genetics in Medicine · 48

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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

2011 · David G. Cox, Jacques Simard, et al. · Human Molecular Genetics · 44

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Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

2021 · Melissa J. MacPherson, Sarah L. Erickson, et al. · Cell Reports · 43

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Works count: 61

Citation count: 5,155

H-index: 29

I10-index: 36