| 2024 |
de Nys, R., Gardner, A. E., van Eyk, C., Tasheva, S., Thomas, P. Q., Bhattacharjee, R., . . . Gecz, J. (2024). Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway. Molecular Psychiatry, 29(7), 2199-2210.
DOI Scopus4 WoS4 Europe PMC4 |
| 2024 |
Sandran, N. G., Fornarino, D. L., Corbett, M. A., Kroes, T., Gardner, A. E., MacLennan, A. H., . . . van Eyk, C. L. (2024). Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data. Genetics in Medicine, 26(10), 101220-1-101220-14.
DOI |
| 2024 |
Nicolas-Martinez, E. C., Robinson, O., Pflueger, C., Gardner, A., Corbett, M. A., Ritchie, T., . . . Jolly, L. A. (2024). RNA variant assessment using transactivation and transdifferentiation. American Journal of Human Genetics, 111(8), 1673-1699.
DOI Scopus7 WoS8 Europe PMC9 |
| 2024 |
Bhattacharjee, R., Jolly, L. A., Corbett, M. A., Wee, I. C., Rao, S. R., Gardner, A. E., . . . Gecz, J. (2024). Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature Communications, 15(1), 1210-1-1210-5.
DOI Scopus11 WoS10 Europe PMC8 |
| 2023 |
Ha, T. T., Burgess, R., Newman, M., Moey, C., Mandelstam, S. A., Gardner, A. E., . . . Corbett, M. A. (2023). Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes, 14(8), 1565.
DOI Scopus3 WoS2 Europe PMC3 |
| 2023 |
Byrne, A. B., Arts, P., Ha, T. T., Kassahn, K. S., Pais, L. S., O'Donnell-Luria, A., . . . Webber, D. L. (2023). Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine, 29(1), 180-189.
DOI Scopus46 WoS40 Europe PMC32 |
| 2021 |
Heron, S. E., Regan, B. M., Harris, R. V., Gardner, A. E., Coleman, M. J., Bennett, M. F., . . . Berkovic, S. F. (2021). Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plus. Neurology, 96(18), 1-10.
DOI Scopus17 WoS11 Europe PMC15 |
| 2021 |
Field, M. J., Sharma, R., Hackett, A., Kayumi, S., Shoubridge, C., Ewans, L. J., . . . Corbett, M. A. (2021). Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human Mutation, 42(7), 835-847.
DOI Scopus1 WoS1 Europe PMC1 |
| 2021 |
Pham, D. H., Pitman, M. R., Sharma, R., Jolly, L., Schulz, R., Gardner, A., . . . Gecz, J. (2021). Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. Hum Mutat, 42(8), 1030-1041.
DOI Scopus1 WoS1 Europe PMC1 |
| 2021 |
van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., . . . Gecz, J. (2021). Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. npj Genomic Medicine, 6(1), 74-1-74-11.
DOI Scopus28 WoS29 Europe PMC27 |
| 2020 |
Kumar, R., Palmer, E., Gardner, A. E., Carroll, R., Banka, S., Abdelhadi, O., . . . Gecz, J. (2020). Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor. Front Mol Neurosci, 13, 15 pages.
DOI Scopus17 WoS15 Europe PMC15 |
| 2020 |
Thai, H., Gardner, A., Redpath, L., Mattiske, T., Dearsley, O., Shaw, M., . . . Shoubridge, C. (2020). Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance. Human Mutation, 41(8), 1407-1424.
DOI Scopus4 WoS2 Europe PMC4 |
| 2020 |
Carroll, R., Shaw, M., Arvio, M., Gardner, A., Kumar, R., Hodgson, B., . . . Gecz, J. (2020). Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. European Journal of Medical Genetics, 63(10), 1-6.
DOI Scopus5 WoS4 Europe PMC5 |
| 2020 |
Jolly, L. A., Parnell, E., Gardner, A. E., Corbett, M. A., Pérez-Jurado, L. A., Shaw, M., . . . Gecz, J. (2020). Missense variant contribution to USP9X-female syndrome. npj Genomic Medicine, 5(1), 1-11.
DOI Scopus25 WoS26 Europe PMC22 |
| 2020 |
Johnson, B. V., Gecz, J., Jolly, L., Sharma, R., Corbett, M., Perez-Jurado, L., . . . Domingo, D. (2020). Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling. Biological Psychiatry, 87(2), 100-112.
DOI Scopus57 WoS55 Europe PMC49 |
| 2019 |
Jackson, M. R., Loring, K. E., Homan, C. C., Thai, H. N., Määttänen, L., Arvio, M., . . . Shoubridge, C. (2019). Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. Life Science Alliance, 2(4), e201900386-1-e201900386-18.
DOI Scopus19 WoS17 Europe PMC17 |
| 2019 |
Shaw, M., Winczewska-Wiktor, A., Badura-Stronka, M., Koirala, S., Gardner, A., Kuszel, Ł., . . . Gecz, J. (2019). EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. European Journal of Medical Genetics, 63(4), 103799-1-103799-7.
DOI Scopus17 WoS14 Europe PMC12 |
| 2019 |
Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., . . . Gecz, J. (2019). Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature Communications, 10(1), 4920.
DOI Scopus113 WoS109 Europe PMC102 |
| 2019 |
Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., . . . Gecz, J. (2019). Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy (npj Genomic Medicine, (2018), 3, 1, (33), 10.1038/s41525-018-0073-4). Npj Genomic Medicine, 4(1), 1 page.
DOI WoS2 Europe PMC3 |
| 2018 |
Cheng, H., Dharmadhikari, A., Varland, S., Ma, N., Domingo, D., Kleyner, R., . . . Lyon, G. (2018). Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies. American Journal of Human Genetics, 102(5), 985-994.
DOI Scopus67 WoS62 Europe PMC73 |
| 2018 |
Van Eyk, C., Corbett, M., Gardner, A., Van Bon, B., Broadbent, J., Harper, K., . . . Gecz, J. (2018). Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism. Translational Psychiatry, 8(1), 88 -1-88 -10.
DOI Scopus26 WoS26 Europe PMC23 |
| 2018 |
Kumar, R., Gardner, A., Homan, C., Douglas, E., Mefford, H., Wieczorek, D., . . . Gecz, J. (2018). Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Human mutation, 39(8), 1126-1138.
DOI Scopus21 WoS23 Europe PMC21 |
| 2018 |
Corbett, M. A., van Eyk, C. L., Webber, D. L., Bent, S. J., Newman, M., Harper, K., . . . Gecz, J. (2018). Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. npj Genomic Medicine, 3(1), 33-1-33-9.
DOI Scopus43 WoS37 Europe PMC31 |
| 2017 |
Corbett, M., Turner, S., Gardner, A., Silver, J., Stankovich, J., Leventer, R., . . . Gecz, J. (2017). Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. European Journal of Medical Genetics, 60(8), 437-443.
DOI Scopus11 WoS10 Europe PMC9 |
| 2016 |
Friez, M., Brooks, S., Stevenson, R., Field, M., Basehore, M., Adès, L., . . . Schwartz, C. (2016). HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. BMJ Open, 6(4), e009537-1-e009537-9.
DOI Scopus43 WoS41 Europe PMC40 |
| 2016 |
Hughes, J., Aubert, M., Heatlie, J., Gardner, A., Gecz, J., Morgan, T., . . . Thomas, P. (2016). Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism. Clinical Endocrinology, 85(4), 609-615.
DOI Scopus30 WoS24 Europe PMC22 |
| 2016 |
Hu, H., Haas, S., Chelly, J., Van Esch, H., Raynaud, M., De Brouwer, A., . . . Kleefstra, T. (2016). X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry, 21(1), 133-148.
DOI Scopus249 WoS240 Europe PMC238 |
| 2015 |
McMichael, G., Bainbridge, M., Haan, E., Corbett, M., Gardner, A., Thompson, S., . . . MacLennan, A. (2015). Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Molecular Psychiatry, 20(2), 176-182.
DOI Scopus194 WoS161 Europe PMC142 |
| 2015 |
Shaw, M., Yap, T., Henden, L., Bahlo, M., Gardner, A., Kalscheuer, V., . . . Gecz, J. (2015). Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics, 58(6-7), 364-368.
DOI Scopus12 WoS12 Europe PMC13 |
| 2015 |
Kumar, R., Corbett, M., Van Bon, B., Woenig, J., Weir, L., Douglas, E., . . . Gecz, J. (2015). THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability. American Journal of Human Genetics, 97(2), 302-310.
DOI Scopus60 WoS59 Europe PMC57 |
| 2015 |
Kumar, R., Corbett, M., Van Bon, B., Gardner, A., Woenig, J., Jolly, L., . . . Gecz, J. (2015). Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics, 24(25), 7171-7181.
DOI Scopus33 WoS31 Europe PMC29 |
| 2013 |
McMichael, G., Haan, E., Gardner, A., Yap, T., Thompson, S., Ouvrier, R., . . . MacLennan, A. (2013). NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. European Journal of Medical Genetics, 56(9), 506-509.
DOI Scopus16 WoS11 Europe PMC12 |
| 2013 |
Hirata, H., McMichael, G., Haan, E., MacLennan, A., Yap, T., Nguyen, L., . . . Gecz, J. (2013). ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. American Journal of Human Genetics, 92(5), 681-695.
DOI Scopus73 WoS70 Europe PMC67 |
| 2013 |
Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature Genetics, 45(5), 546-551.
DOI Scopus327 WoS287 Europe PMC253 |
| 2012 |
Huang, L., Jolly, L., Willis-Owen, S., Gardner, A., Sharma, R., Douglas, E., . . . Gecz, J. (2012). A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. American Journal of Human Genetics, 91(4), 694-702.
DOI Scopus84 WoS76 Europe PMC83 |
| 2012 |
Shoubridge, C., Gardner, A., Schwartz, C., Hackett, A., Field, M., & Gecz, J. (2012). Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?. European Journal of Human Genetics, 2012(12), 1-4.
DOI Scopus9 WoS8 Europe PMC5 |
| 2012 |
Field, M., Scheffer, I., Gill, D., Wilson, M., Christie, L., Shaw, M., . . . Gecz, J. (2012). Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. European Journal of Human Genetics, 20(7), 806-809.
DOI Scopus48 WoS45 Europe PMC43 |
| 2012 |
Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Hughes, J., . . . Dibbens, L. (2012). PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), 152-160.
DOI Scopus246 WoS211 Europe PMC192 |
| 2011 |
Corbett, M., Schwake, M., Bahlo, M., Dibbens, L., Lin, M., Gandolfo, L., . . . Berkovic, S. (2011). A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. American Journal of Human Genetics, 88(5), 657-663.
DOI Scopus104 WoS95 Europe PMC84 |
| 2010 |
Bahlo, M., Jolly, L., Afawi, Z., Gardner, A., Oliver, K., Tan, S., . . . Corbett, M. (2010). A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. American Journal of Human Genetics, 87(3), 371-375.
DOI Scopus108 WoS104 Europe PMC97 |
| 2010 |
Shoubridge, C., Tarpey, P., Abidi, F., Ramsden, S., Rujirabanjerd, S., Murphy, J., . . . Gecz, J. (2010). Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nature Genetics, 42(6), 486-488.
DOI Scopus137 WoS124 Europe PMC115 |
| 2009 |
Tarpey, P., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., . . . Stratton, M. (2009). A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nature Genetics, 41(5), 535-543.
DOI Scopus521 WoS481 Europe PMC456 |
| 2007 |
Tarpey, P., Raymond, F., Nguyen, L., Rodriguez, J., Hackett, A., Vandeleur, L., . . . Gecz, J. (2007). Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nature Genetics, 39(9), 1127-1133.
DOI Scopus224 WoS215 Europe PMC208 |
| 2007 |
Harkin, L., McMahon, J., Iona, X., Dibbens, L., Pelekanos, J., Zuberi, S., . . . Scheffer, I. (2007). The spectrum of SCNIA-related infantile epileptic encephalopathies. Brain, 130(3), 843-852.
DOI Scopus464 WoS414 Europe PMC339 |
| 2005 |
Hahn, C., Su, Z., Drogemuller, C., Tsykin, A., Waterman, S., Brautigan, P., . . . Gamble, J. (2005). Expression profiling reveals functionally important genes and coordinately regulated signaling pathway genes during in vitro angiogenesis. Physiological Genomics, 22(1), 57-69.
DOI Scopus17 WoS15 Europe PMC15 |
| 2004 |
Bais, A., Gardner, A., McKenzie, O., Callen, D., Sutherland, G., & Kremmidiotis, G. (2004). Aberrant CBFA2T3B gene promoter methylation in breast tumors. Molecular Cancer, 3(22), www1-www16.
DOI Scopus11 WoS11 Europe PMC11 |
| 2004 |
Bhalla, K., Phillips, H., Crawford, J., McKenzie, O., Mulley, J., Eyre, H., . . . Callen, D. (2004). The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. Journal of Human Genetics, 49(6), 308-311.
DOI Scopus125 WoS118 Europe PMC123 |
| 2004 |
Abdellah, Z., Ahmadi, A., Ahmed, S., Aimable, M., Ainscough, R., Almeida, J., . . . Butcher, P. (2004). Finishing the euchromatic sequence of the human genome. Nature, 431(7011), 931-945.
DOI Scopus3932 Europe PMC2720 |
| 2002 |
Powell, J., Gardner, A., Bais, A., Hinze, S., Baker, E., Whitmore, S., . . . Kremmidiotis, G. (2002). Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes. Genomics, 80(3), 303-310.
DOI Scopus41 WoS41 Europe PMC34 |
| 2002 |
Kochetkova, M., McKenzie, O., Bais, A., Martin, J., Secker, G., Seshadri, R., . . . Callen, D. (2002). CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3. Cancer Research, 62(16), 4599-4604.
Scopus62 WoS61 Europe PMC52 |
| 2001 |
Kremmidiotis, G., Gardner, A., Settasatian, C., Savoia, A., Sutherland, G., & Callen, D. (2001). Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. Genomics, 76(1-3), 58-65.
DOI Scopus44 WoS41 Europe PMC34 |
| 2001 |
Wallace, R., Scheffer, I., Barnett, S., Richards, M., Dibbens, L., Desai, R., . . . Berkovic, S. (2001). Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus. American Journal of Human Genetics, 68(4), 859-865.
DOI Scopus332 WoS278 Europe PMC243 |
| 2000 |
Ried, K., Finnis, M., Hobson, L., Mangelsdorf, M., Dayan, S., Nancarrow, J., . . . Richards, R. (2000). Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. Human Molecular Genetics, 9(11), 1651-1663.
DOI Scopus256 WoS243 Europe PMC224 |
| 1998 |
Morgan, D., Turnpenny, L., Goodship, J., Dai, W., Majumder, K., Matthews, L., . . . Strachan, T. (1998). Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Nature Genetics, 20(2), 149-156.
DOI Scopus215 WoS199 Europe PMC168 |
| 1994 |
Wilson, R., Ainscough, R., Anderson, K., Baynes, C., Berks, M., Bonfield, J., . . . Wohldman, P. (1994). 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans. Nature, 368(6466), 32-38.
DOI Scopus1489 WoS1281 Europe PMC1115 |
