Dr Andrew Fry

2025

• Efthymiou, S. et al., 2025. Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. American Journal of Human Genetics 112 (5), pp.1117-1138. (10.1016/j.ajhg.2025.03.015)
• Maddison, R. et al. 2025. Adapting historical clinical genetic test records for anonymised data linkage: obstacles and opportunities. International Journal of Population Data Science 8 (5), pp.1-6. (10.23889/ijpds.v8i5.2924)
• Voase, S. L. , Fry, A. E. and Hamandi, K. 2025. Prolonged coma and cerebral oedema in a patient with an ATP1A2 variant. Practical Neurology (10.1136/pn-2025-004659)

2024

• Kraft, F. et al., 2024. Brain malformations and seizures by impaired chaperonin function of TRiC. Science 386 (6721), pp.516-525. (10.1126/science.adp8721)
• Yu, Z. et al., 2024. PSMC5 insufficiency and P320R mutation impair proteasome function. Human Molecular Genetics 33 (17), pp.1506-1523. (10.1093/hmg/ddae085)

2023

• Brock, S. et al., 2023. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. Journal of Medical Genetics 60 (2), pp.183-192. (10.1136/jmedgenet-2021-107971)
• Jain, V. et al., 2023. Börjeson–Forssman–Lehmann syndrome: Delineating the clinical and allelic spectrum in 14 new families. European Journal of Human Genetics 31 , pp.1421-1429. (10.1038/s41431-023-01447-0)
• Pickrell, W. O. and Fry, A. E. 2023. Epilepsy genetics: a practical guide for adult neurologists. Practical Neurology 23 (2), pp.111-119. (10.1136/pn-2022-003623)
• XiangWei, W. et al., 2023. Clinical and functional consequences of GRIA variants in patients with neurological diseases. Cellular and Molecular Life Sciences 80 (11) 345. (10.1007/s00018-023-04991-6)

2022

• Lippe, C. et al., 2022. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics Part A 188 (1), pp.272-282. (10.1002/ajmg.a.62492)
• Murch, O. et al., 2022. Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature. European Journal of Human Genetics 30 , pp.95-100. (10.1038/s41431-021-00961-3)
• Ragoussis, V. et al., 2022. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of Medical Genetics 59 (4), pp.366-369. (10.1136/jmedgenet-2020-107528)
• Vezyroglou, A. et al., 2022. The phenotypic continuum of ATPLA3-related disorders. Neurology 99 (14), pp.e1511-e1526. (10.1212/WNL.0000000000200927)

2021

• Balasubramanian, M. et al., 2021. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics 29 , pp.625-636. (10.1038/s41431-020-00769-7)
• Faundes, V. et al., 2021. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in Medicine 23 (7), pp.1202–1210. (10.1038/s41436-021-01119-8)
• Faundes, V. et al., 2021. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nature Communications 12 (1) 833. (10.1038/s41467-021-21053-2)
• Fry, A. E. et al. 2021. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. American Journal of Human Genetics 108 (1), pp.176-185. (10.1016/j.ajhg.2020.10.017)

2020

• Aagaard Nolting, L. et al., 2020. A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Clinical Genetics 97 (6), pp.927-932. (10.1111/cge.13739)
• Durkin, A. et al., 2020. Clinical findings of 21 previously unreported probands with HNRNPU -related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A 182 (7), pp.1637-1654. (10.1002/ajmg.a.61599)
• McClatchey, M. A. et al. 2020. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. European Journal of Medical Genetics 63 (9) 103972. (10.1016/j.ejmg.2020.103972)
• Yates, T. M. et al., 2020. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation 41 (5), pp.1042-1050. (10.1002/humu.24001)
• Zaman, T. et al., 2020. SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation. Annals of Neurology 88 (2), pp.348-362. (10.1002/ana.25809)

2019

• Angius, A. et al., 2019. Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses. Clinical Genetics 95 (5), pp.607-614. (10.1111/cge.13532)
• Gorman, K. M. et al., 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104 (5), pp.948-956. (10.1016/j.ajhg.2019.03.005)
• Vandervore, L. V. et al., 2019. TMX2 Is a crucial regulator of cellular redox state, and Its dysfunction causes severe brain developmental abnormalities. American Journal of Human Genetics 105 (6), pp.1126-1147. (10.1016/j.ajhg.2019.10.009)

2018

• Fry, A. E. et al. 2018. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain 141 (3), pp.698-712. (10.1093/brain/awx358)
• Gardner, J. et al. 2018. Clinical and functional characterization of the recurrent TUBA1A p.(Arg2His) mutation. Brain Sciences 8 (8) 145. (10.3390/brainsci8080145)
• Myers, K. A. et al., 2018. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Research 140 , pp.166-170. (10.1016/j.eplepsyres.2018.01.014)
• O'Neill, A. C. et al., 2018. A primate-specific isoform of PLEKHG6 regulates neurogenesis and neuronal migration. Cell Reports 25 (10), pp.2729-2741. (10.1016/j.celrep.2018.11.029)
• Romaniello, R. et al., 2018. Tubulin genes and malformations of cortical development. European Journal of Medical Genetics 61 (12), pp.744-754. (10.1016/j.ejmg.2018.07.012)
• Stals, K. L. et al., 2018. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenatal Diagnosis 38 (1), pp.33-43. (10.1002/pd.5175)
• Turnpenny, P. D. et al., 2018. Missense mutations of the Pro65 residue of PCGF2 cause a recognizable syndrome associated with craniofacial, neurological, cardiovascular, and skeletal features. American Journal of Human Genetics 103 (5), pp.786-793. (10.1016/j.ajhg.2018.09.012)

2017

• Balasubramanian, M. et al., 2017. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of Medical Genetics (10.1136/jmedgenet-2016-104360)
• Hamdan, F. F. et al., 2017. High rate of recurrent De Novo mutations in developmental and epileptic encephalopathies. American Journal of Human Genetics 101 (5), pp.664-685. (10.1016/j.ajhg.2017.09.008)
• McRae, J. F. et al., 2017. Prevalence and architecture of de novo mutations in developmental disorders. Nature 542 , pp.433-438. (10.1038/nature21062)

2016

• Fry, A. E. et al. 2016. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17 , pp.-. 34. (10.1186/s12881-016-0294-2)
• Urquhart, J. et al., 2016. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Clinical Genetics 89 (6), pp.724-727. (10.1111/cge.12734)

2014

• Mirzaa, G. M. et al., 2014. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics 46 , pp.510-515. (10.1038/ng.2948)

2013

• Cushion, T. D. et al., 2013. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136 (2), pp.536-548. (10.1093/brain/aws338)
• Fry, A. E. et al. 2013. Neuropsychiatric disease in patients with periventricular heterotopia. The Journal of Neuropsychiatry & Clinical Neurosciences 25 (1), pp.26-31. (10.1176/appi.neuropsych.11110336)

2012

• Rivière, J. et al., 2012. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome [Letter]. Nature Genetics 44 (4), pp.440-444. (10.1038/ng.1091)

2009

• Campino, S. et al., 2009. TLR9 polymorphisms in African populations: no association with severe malaria, but evidence of cis-variants acting on gene expression. Malaria Journal 8 (1)(10.1186/1475-2875-8-44)
• Fry, A. E. et al. 2009. Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes. Human Molecular Genetics 18 (14), pp.2683-2692. (10.1093/hmg/ddp192)
• Jallow, M. et al., 2009. Genome-wide and fine-resolution association analysis of malaria in West Africa. Nature Genetics 41 (6), pp.657-665. (10.1038/ng.388)
• Teoh, Y. Y. J. et al. 2009. Genome-wide comparisons of variation in linkage disequilibrium. Genome Research 19 (10), pp.1849-1860. (10.1101/gr.092189.109)

2008

• Wei, C. et al., 2008. Central precocious puberty in a patient with adrenal hypoplasia congenita [Poster presentation abstract]. Hormone Research 70 (S1)(10.1159/000157533)

2007

• Fry, A. E. et al. 2007. Common variation in the ABO glycosyltransferase is associated with susceptibility to severe 'Plasmodium falciparum' malaria. Human Molecular Genetics 17 (4), pp.567-576. (10.1093/hmg/ddm331)