Publications by authors named "Alison Male"

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Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Julia Volpi, Xiaonan Zhao, Nichole Owen, Tia Evans, Muriel Holder-Espinasse, Alison Male

Eur J Hum Genet· August 2025

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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Alison Male

Genet Med· January 2025

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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Alison Male

Front Genet· June 2024

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Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Daniel G Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C P Leong, Alison Male

medRxiv· February 2024

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The Phenotypic Continuum of -Related Disorders.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A Brownstein, Alison Male

Neurology· October 2022

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Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
Melissa J MacPherson, Sarah L Erickson, Drayden Kopp, Pengqiang Wen, Mohamad-Reza Aghanoori, Alison Male

Cell Rep· June 2021

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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Alison Male

Genet Med· February 2021

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A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Julie Vogt, Atif Al-Saedi, Tracey Willis, Alison Male, Arthur McKie

Clin Genet· June 2020

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KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Tarishi Nemani, Dora Steel, Marios Kaliakatsos, Catherine DeVile, Athina Ververi, Alison Male

J Peripher Nerv Syst· June 2020

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Alison Male

Am J Hum Genet· April 2020

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Alison M Male

Nat Commun· February 2020

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A clinical scoring system for congenital contractural arachnodactyly.
Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Alison M Male

Genet Med· January 2020

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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.
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Alison Male

Genet Med· November 2018

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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Jochem M G Evers, Roman A Laskowski, Marta Bertolli, Jill Clayton-Smith, Charu Deshpande, Alison Male

Hum Mol Genet· February 2017

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, Kadir Caner Akdemir, Shalini N Jhangiani, Alison Male

Hum Genet· May 2016

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Alison Male

Am J Hum Genet· August 2015

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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.
Paulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, Vedat Topsakal, Paula van Dommelen, Alison Male

Am J Med Genet A· March 2015

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Mutations in ZBTB20 cause Primrose syndrome.
Viviana Cordeddu, Bert Redeker, Emilia Stellacci, Aldo Jongejan, Alessandra Fragale, Alison Male

Nat Genet· August 2014

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The genetic basis of DOORS syndrome: an exome-sequencing study.
Philippe M Campeau, Dalia Kasperaviciute, James T Lu, Lindsay C Burrage, Choel Kim, Alison Male

Lancet Neurol· January 2014

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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Alison Male

Orphanet J Rare Dis· September 2013

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Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm.
Anthony Martin Vandersteen, Joanna Kenny, Naheed L Khan, Alison Male

BMJ Case Rep· March 2013

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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Gillian I Rice, Paul R Kasher, Gabriella M A Forte, Niamh M Mannion, Sam M Greenwood, Alison M Male

Nat Genet· November 2012

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The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine.
Hayley C Whitaker, Zsofia Kote-Jarai, Helen Ross-Adams, Anne Y Warren, Johanna Burge, Alison Male

PLoS One· October 2010

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Alison Male

N Engl J Med· October 2008

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Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.
Alison Male, Angela Davies, Anne Bergbaum, Jean Keeling, David FitzPatrick

Eur J Hum Genet· December 2002

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