Dr Andrew E. Fry

2021

• Lippe, C.et al. 2021. 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 (10.1002/ajmg.a.62492)
• 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)
• 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)
• Ragoussis, V.et al. 2021. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of Medical Genetics (10.1136/jmedgenet-2020-107528)
• 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), article number: 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

• 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), article number: 103972. (10.1016/j.ejmg.2020.103972)
• 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)
• 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)
• 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)
• 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)

2019

• 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)
• 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)

2018

• 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)
• 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)
• 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)
• Gardner, J.et al. 2018. Clinical and functional characterization of the recurrent TUBA1A p.(Arg2His) mutation. Brain Sciences 8(8), article number: 145. (10.3390/brainsci8080145)
• 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)
• 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)
• 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)

2017

• 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)
• 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)
• 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. -., article number: 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

• 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)
• 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)
• 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)