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A. Fry · SciRah

Researcher profile · Semantic Scholar

A. Fry

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A. Fry — researcher profile on SciRah

h-index: 30
Works: 66
Citations: 2,971

Most-cited papers

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
F. Hamdan, Candace T. Myers, P. Cossette, P. Lemay +102 more
2017American Journal of Human Genetics417 citations Open access
Semantic Scholar
Common variation in the ABO glycosyltransferase is associated with susceptibility to severe Plasmodium falciparum malaria
A. Fry, Michael J. Griffiths, S. Auburn, M. Diakité +14 more
2007Human Molecular Genetics204 citations Open access
Semantic Scholar
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
S. Banka, R. Veeramachaneni, W. Reardon, E. Howard +48 more
2011European Journal of Human Genetics175 citations Open access
Semantic Scholar
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
A. Verloes, N. Di Donato, J. Masliah-Planchon, M. Jongmans +48 more
2014European Journal of Human Genetics150 citations Open access
Semantic Scholar
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
T. Cushion, W. Dobyns, J. Mullins, N. Stoodley +10 more
2013Brain : a journal of neurology149 citations
Semantic Scholar
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
G. Mirzaa, David A. Parry, A. Fry, K. A. Giamanco +29 more
2014Nature Genetics142 citations Open access
Semantic Scholar
Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility
T. Clark, A. Fry, S. Auburn, S. Campino +12 more
2009European Journal of Human Genetics133 citations Open access
Semantic Scholar
Tubulin genes and malformations of cortical development.
R. Romaniello, F. Arrigoni, A. Fry, M. Bassi +4 more
2018European Journal of Medical Genetics116 citations Open access
Semantic Scholar
International consensus recommendations on the diagnostic work-up for malformations of cortical development
R. Oegema, T. S. Barakat, M. Wilke, K. Stouffs +23 more
2020Nature Reviews Neurology114 citations Open access
Semantic Scholar
The genetics of lissencephaly
A. Fry, T. Cushion, D. Pilz
2014American Journal of Medical Genetics. Part C, Seminars in Medical Genetics97 citations
Semantic Scholar
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
A. Fry, K. Fawcett, N. Zelnik, Hong-Jie Yuan +37 more
2018Brain : a journal of neurology87 citations Open access
Semantic Scholar
Genome-wide comparisons of variation in linkage disequilibrium.
Yik Y. Teo, A. Fry, K. Bhattacharya, K. Small +2 more
2009Genome Research74 citations Open access
Semantic Scholar
SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
Tariq Zaman, K. Helbig, Jérôme Clatot, Christopher H. Thompson +32 more
2020Annals of Neurology70 citations Open access
Semantic Scholar
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
K. Stals, M. Wakeling, Julia Baptista, R. Caswell +37 more
2017Prenatal Diagnosis68 citations Open access
Semantic Scholar
Lack of Association of Interferon Regulatory Factor 1 with Severe Malaria in Affected Child-Parental Trio Studies across Three African Populations
V. Mangano, T. Clark, S. Auburn, S. Campino +17 more
2009PLoS ONE58 citations Open access
Semantic Scholar
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
V. Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie +20 more
2021Nature Communications56 citations Open access
Semantic Scholar
Tumor Necrosis Factor and Lymphotoxin-α Polymorphisms and Severe Malaria in African Populations
T. Clark, M. Diakité, S. Auburn, S. Campino +17 more
2009Journal of Infectious Diseases54 citations Open access
Semantic Scholar
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
V. Faundes, S. Goh, Rhoda Akilapa, H. Bezuidenhout +40 more
2021Genetics in Medicine50 citations Open access
Semantic Scholar
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
J. McRae, S. Clayton, Tomas W. Fitzgerald, J. Kaplanis +297 more
2016bioRxiv50 citations Open access
Semantic Scholar
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
Adam C. O'Neill, C. Kyrousi, Johannes Klaus, R. Leventer +13 more
2018Cell Reports43 citations Open access
Semantic Scholar
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
B. Kloeckener-Gruissem, J. Neidhardt, I. Magyar, H. Plauchu +7 more
2012European Journal of Human Genetics43 citations Open access
Semantic Scholar
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
A. Fry, E. Rees, R. Thompson, K. Mantripragada +25 more
2016BMC Medical Genetics41 citations Open access
Semantic Scholar
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Laura V. Vandervore, R. Schot, C. Milanese, Daphne J. Smits +45 more
2019American Journal of Human Genetics39 citations Open access
Semantic Scholar
TLR9 polymorphisms in African populations: no association with severe malaria, but evidence of cis-variants acting on gene expression
S. Campino, J. Forton, S. Auburn, A. Fry +11 more
2009Malaria Journal39 citations Open access
Semantic Scholar
The Phenotypic Continuum of ATP1A3-Related Disorders
Aikaterini Vezyroglou, Rhoda Akilapa, K. Barwick, S. Koene +25 more
2022Neurology36 citations Open access
Semantic Scholar
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
A. Fry, Christopher Marra, Anna V. Derrick, W. O. Pickrell +18 more
2020American Journal of Human Genetics36 citations Open access
Semantic Scholar
The Phenotypic Continuum of ATPLA3-Related Disorders.
Aikaterini Vezyroglou, Rhoda Akilapa, K. Barwick, S. Koene +25 more
2022Neurology32 citations Open access
Semantic Scholar
Neuropsychiatric disease in patients with periventricular heterotopia.
A. Fry, M. Kerr, F. Gibbon, P. Turnpenny +4 more
2013The Journal of Neuropsychiatry and Clinical Neurosciences31 citations
Semantic Scholar
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
M. Balasubramanian, A. Dingemans, S. Albaba, R. Richardson +35 more
2021European Journal of Human Genetics30 citations Open access
Semantic Scholar
Validating Discovered Cis-Acting Regulatory Genetic Variants: Application of an Allele Specific Expression Approach to HapMap Populations
S. Campino, J. Forton, Srilakshmi M. Raj, Bert Mohr +8 more
2008PLoS ONE30 citations Open access
Semantic Scholar
DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation
J. Urquhart, G. Beaman, H. Byers, N. A. Roberts +11 more
2016Clinical Genetics29 citations
Semantic Scholar
A genetic association study in The Gambia using tagging polymorphisms in the major histocompatibility complex (MHC) class III region implicates a HLA-B associated transcript 2 (BAT2) polymorphism in severe malaria susceptibility
M. Diakité, T. Clark, S. Auburn, S. Campino +9 more
2008Human Genetics28 citations Open access
Semantic Scholar
Further Evidence Supporting a Role for Gs Signal Transduction in Severe Malaria Pathogenesis
S. Auburn, A. Fry, T. Clark, S. Campino +11 more
2010PLoS ONE27 citations Open access
Semantic Scholar
Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review
Anna Durkin, S. Albaba, A. Fry, J. Morton +18 more
2020American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
K. Myers, S. White, S. Mohammed, K. Metcalfe +5 more
2018Epilepsy Research19 citations Open access
Semantic Scholar
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
J. Gardner, T. Cushion, Georgios Niotakis, Heather E. Olson +14 more
2018Brain Science18 citations Open access
Semantic Scholar
Association of the GNAS Locus with Severe Malaria
S. Auburn, M. Diakité, A. Fry, A. Ghansah +17 more
2008Human Genetics15 citations Open access
Semantic Scholar
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Charlotte Lippe, K. Tveten, T. Prescott, Ø. Holla +27 more
2021American Journal of Medical Genetics. Part A13 citations Open access
Semantic Scholar
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
Oliver Murch, V. Jain, Andreas Benneche, K. Metcalfe +10 more
2021European Journal of Human Genetics13 citations Open access
Semantic Scholar
Connective tissue involvement in two patients with features of cranioectodermal dysplasia
A. Fry, C. Klingenberg, J. Matthes, K. Heimdal +2 more
2009American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Assessing genuine parents-offspring trios for genetic association studies
Yik Y. Teo, A. Fry, Miguel A. Sanjoaquin, Bo Pederson +4 more
2008Human Heredity13 citations Open access
Semantic Scholar
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Stefanie Brock, A. Laquérriere, F. Marguet, S. J. Myers +25 more
2022Journal of Medical Genetics12 citations Open access
Semantic Scholar
Whole genome-amplified DNA
Yik Y. Teo, M. Inouye, K. Small, A. Fry +8 more
2008Nature Methods12 citations Open access
Semantic Scholar
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses
A. Angius, P. Uva, M. Oppo, I. Buers +16 more
2019Clinical Genetics11 citations Open access
Semantic Scholar
Haplotype homozygosity and derived alleles in the human genome.
A. Fry, Clare Trafford, Martin Kimber, Man-Suen Chan +2 more
2006American Journal of Human Genetics11 citations Open access
Semantic Scholar
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
M. Mcclatchey, Zachary du Toit, Rhys Vaughan, S. Whatley +8 more
2020European Journal of Medical Genetics10 citations Open access
Semantic Scholar
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
P. Turnpenny, Michael Wright, M. Sloman, R. Caswell +21 more
2018American Journal of Human Genetics10 citations Open access
Semantic Scholar
A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis
Line Aagaard Nolting, C. Brasch-Andersen, H. Cox, F. Kanani +8 more
2020Clinical Genetics7 citations Open access
Semantic Scholar
Congenital glaucoma in Wagner syndrome.
Hugh Jewsbury, A. Fry, P. Watts, V. Nas +1 more
2014Journal of AAPOS7 citations
Semantic Scholar
PTPRC (CD45) variation and disease association studied using single nucleotide polymorphism tagging.
B. Hennig, A. Fry, K. Hirai, H. Tahara +7 more
2008Tissue Antigens7 citations
Semantic Scholar

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