![Hywel Williams](https://profiles-cardiff.imgix.net/attachments/2641?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Dr Hywel Williams
(e/fe)
Uwch Ddarlithydd
- WilliamsHJ1@caerdydd.ac.uk
- +44 29206 87866
- Adeilad y Sefydliad Geneteg Feddygol, Ystafell 2.33a, Ysbyty Athrofaol Cymru, Parc y Mynydd Bychan, Caerdydd, CF14 4XN
Trosolwyg
My research is focused on improving our understanding of the patho-biological systems that when dysregulated lead to disease phenotypes in humans. Primarily I am working on rare diseases with an emphasis on neuro-related phenotypes.
One of my main interests is how gene expression is regulated both spatially and temporally during development and throughout life and how DNA variation can influence this. To understand this will require knowledge of the full repertoire of variation each individual possesses within both the coding and non-coding genome.
My aim is to improve our ability to make a diagnosis in the 50-60 % patients with rare disease who currently remain undiagnosed and armed with this knowledge build a better understanding of the functional biology that leads to disease. In turn this will improve our ability to develop new therapeutics to treat patients and in the future may even allow us to prevent these diseases form occurring.
To do this will require the use of smart algorithms and informatics to extract the maximum amount of information from Big Data. I believe network analysis techniques will be hugely important in helping us combine this information so we understand the composition of biological systems in healthy and disease states.
To achieve our goals will require us to work together as a community to share our data in an open and transparent way.
Cyhoeddiad
2022
- Jezkova, J., Shaw, S., Taverner, N. V. and Williams, H. J. 2022. Rapid genome sequencing for pediatrics. Human Mutation: Variation, Informatics and Disease 43(11), pp. 1507-1518. (10.1002/humu.24466)
- Akin, L. et al. 2022. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Genetics in Medicine 24(2), pp. 384-397. (10.1016/j.gim.2021.09.019)
- McGlacken-Byrne, S. M. et al. 2022. ZSWIM7 Is associated with human female meiosis and familial primary ovarian insufficiency. Journal of Clinical Endocrinology and Metabolism 107(1), pp. e254-e263., article number: dgab597. (10.1210/clinem/dgab597)
2020
- Hong, Y. et al. 2020. Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene. Neurology Genetics 6(4), article number: e448. (10.1212/NXG.0000000000000448)
- Balogh, E. et al. 2020. Pseudouridylation defect due toDKC1andNOP10mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences 117(26), pp. 15137-15147. (10.1073/pnas.2002328117)
2019
- Cerbone, M. et al. 2019. Sotos Syndrome presenting with neonatal hyperinsulinaemic hypoglycaemia, extensive thrombosis, and multisystem involvement. Hormone Research in Paediatrics 92(1), pp. 64-70. (10.1159/000496545)
- Gregory, L. C. et al. 2019. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis. Journal of Clinical Endocrinology and Metabolism 104(12), pp. 5737-5750. (10.1210/jc.2019-00631)
- Peters, M. J. and Williams, H. J. 2019. Information is the resolution of uncertainty: whole genome approaches to genetic diagnosis on the PICU*. Pediatric Critical Care Medicine 20(11), pp. 1087-1088. (10.1097/PCC.0000000000002091)
- Peters, M. J. and Williams, H. J. 2019. Information is the resolution of uncertainty. Pediatric Critical Care Medicine 20(11), pp. 1087-1088. (10.1097/PCC.0000000000002091)
- Gregory, L. C. et al. 2019. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. EBioMedicine 42, pp. 470-480. (10.1016/j.ebiom.2019.03.013)
- 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)
- Haworth, S. et al. 2019. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications 10, article number: 357. (10.1038/s41467-018-07863-x)
2018
- Mestek-Boukhibar, L. et al. 2018. Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics 55(11), pp. 721-728. (10.1136/jmedgenet-2018-105396)
- Martin, C. et al. 2018. Erratum: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. American Journal of Human Genetics 103(3), pp. 456. (10.1016/j.ajhg.2018.08.012)
- Martin, C. et al. 2018. Mutations in TOP3A cause a Bloom syndrome-like disorder. American Journal of Human Genetics 103(2), pp. 221-231. (10.1016/j.ajhg.2018.07.001)
- Apps, J. R. et al. 2018. Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica 135, pp. 757-777. (10.1007/s00401-018-1830-2)
- Shoemark, A. et al. 2018. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax 73(2), pp. 157-166. (10.1136/thoraxjnl-2017-209999)
2017
- Reid, E. et al. 2017. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Journal of Inherited Metabolic Disease 40(3), pp. 385-394. (10.1007/s10545-017-0025-7)
- Olcese, C. et al. 2017. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications 8, article number: 14279. (10.1038/ncomms14279)
- Le Quesne Stabej, P. et al. 2017. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Orphanet Journal of Rare Diseases 12, article number: 24. (10.1186/s13023-017-0582-8)
- Oud, M. M. et al. 2017. Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. American Journal of Human Genetics 100(2), pp. 281-296. (10.1016/j.ajhg.2017.01.013)
2016
- Reid, E. et al. 2016. Seizures due to a KCNQ2 mutation: Treatment with vitamin B6. In: Morava, E. et al. eds. JIMD Reports,., Vol. 27. Berlin and Heidelberg: Springer, pp. 79-84.
- Bacchelli, C. and Williams, H. J. 2016. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Review of Molecular Diagnostics 16(10), pp. 1073-1082. (10.1080/14737159.2016.1222906)
- Le Quesne Stabej, P. et al. 2016. STAG3 truncating variant as the cause of primary ovarian insufficiency. European Journal of Human Genetics 24(1), pp. 135-138. (10.1038/ejhg.2015.107)
2015
- Drury, S. et al. 2015. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenatal Diagnosis 35(10), pp. 1010-1017. (10.1002/pd.4675)
- Williams, H. et al. 2015. The use of whole-exome sequencing to disentangle complex phenotypes. European Journal of Human Genetics 24(2), pp. 298-301. (10.1038/ejhg.2015.121)
- Thomas, A. et al. 2015. Erratum: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome (American Journal of Human Genetics (2014) 95 (611–621)). American Journal of Human Genetics 96(6), pp. 1008-1009. (10.1016/j.ajhg.2015.05.010)
2014
- Thomas, A. C. et al. 2014. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. American Journal of Human Genetics 95(5), pp. 611-621. (10.1016/j.ajhg.2014.10.007)
- Fromer, M. et al. 2014. De novo mutations in schizophrenia implicate synaptic networks. Nature 506, pp. 179-184. (10.1038/nature12929)
2013
- Williams, H. J., Monks, S., Murphy, K. C., Kirov, G., O'Donovan, M. C. and Owen, M. J. 2013. Schizophrenia two-hit hypothesis in velo-cardio facial syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162(2), pp. 177-182. (10.1002/ajmg.b.32129)
- Fayeye, O., Pettorini, B., Smith, M., Williams, H., Rodrigues, D. and Kay, A. 2013. Meningococcal Encephalitis associated with cerebellar tonsillar herniation and acute cervicomedullary injury. British Journal of Neurosurgery 27(4), pp. 513-515. (10.3109/02688697.2013.764967)
2012
- Williams, H. J., Georgieva, L., Dwyer, S. L., Kirov, G., Owen, M. J. and O'Donovan, M. C. 2012. Absence of de novo point mutations in exons of GRIN2B in a large schizophrenia trio sample [Letter]. Schizophrenia Research 141(2-3), pp. 274-276. (10.1016/j.schres.2012.08.024)
- Kuswanto, C. N. et al. 2012. Genome-wide supported psychosis risk variant in ZNF804A gene and impact on cortico-limbic WM integrity in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B(3), pp. 255-262. (10.1002/ajmg.b.32032)
- Keller, M. C. et al. 2012. Runs of homozygosity implicate autozygosity as a schizophrenia risk factor. Plos Genetics 8(4), article number: e1002656. (10.1371/journal.pgen.1002656)
- Sim, K. et al. 2012. ARVCF genetic influences on neurocognitive and neuroanatomical intermediate phenotypes in Chinese patients with schizophrenia. Journal of Clinical Psychiatry 73(3), pp. 320-326. (10.4088/JCP.10m06491)
2011
- Ripke, S. et al. 2011. Genome-wide association study identifies five new schizophrenia loci [Letter]. Nature Genetics 43(10), pp. 969-976. (10.1038/ng.940)
- Chen, J. et al. 2011. Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia. Schizophrenia Research 131(1-3), pp. 43-51. (10.1016/j.schres.2011.06.023)
- Williams, H. J. et al. 2011. Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Molecular Psychiatry 16(4), pp. 429-441. (10.1038/mp.2010.36)
- Ikeda, M. et al. 2011. Genome-Wide Association Study of Schizophrenia in a Japanese Population. Biological Psychiatry 69(5), pp. 472-478. (10.1016/j.biopsych.2010.07.010)
- Williams, H. J. et al. 2011. Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Human Molecular Genetics 20(2), pp. 387-391. (10.1093/hmg/ddq471)
- Bridges, M. et al. 2011. Genetic classification of populations using supervised learning. PLoS ONE 6(5), article number: e14802. (10.1371/journal.pone.0014802)
- Smith, R. L. et al. 2011. Analysis of neurogranin (NRGN) in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156B(5), pp. 532-535. (10.1002/ajmg.b.31191)
- Williams, H. J., Escott-Price, V., Smith, R. L., Dwyer, S. L., Russo, G., Owen, M. J. and O'Donovan, M. C. 2011. Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156(7), pp. 781-784. (10.1002/ajmg.b.31219)
- Carroll, L. S., Williams, H. J., Walters, J. T. R., Kirov, G., O'Donovan, M. C. and Owen, M. J. 2011. Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156(7), pp. 844-849. (10.1002/ajmg.b.31231)
- Hamshere, M. L. et al. 2011. Phenotype evaluation and genomewide linkage study of clinical variables in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156(8), pp. 929-940. (10.1002/ajmg.b.31240)
- Dwyer, S. L. et al. 2011. Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder [letter]. Molecular Psychiatry 16(8), pp. 790-791. (10.1038/mp.2011.2)
2010
- Carroll, L. S. et al. 2010. Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. Molecular Psychiatry 15(11), pp. 1101-1111. (10.1038/mp.2009.96)
- Walters, J. T. R. et al. 2010. Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia. Archives of General Psychiatry 67(7), pp. 692-700. (10.1001/archgenpsychiatry.2010.81)
- Ikeda, M. et al. 2010. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. Biological psychiatry 67(3), pp. 263-269. (10.1016/j.biopsych.2009.08.030)
- Ikeda, M. et al. 2010. Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B(4), pp. 980-982. (10.1002/ajmg.b.31060)
- Dwyer, S. L., Williams, H., Holmans, P. A., Escott-Price, V., Craddock, N. J., Owen, M. J. and O'Donovan, M. C. 2010. No evidence that rare coding variants in ZNF804A confer risk of schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B(8), pp. 1411-1416. (10.1002/ajmg.b.31117)
2009
- Donohoe, G. et al. 2009. Influence of NOS1 on verbal intelligence and working memory in both patients with schizophrenia and healthy control subjects. Archives of General Psychiatry 66(10), pp. 1045-1054. (10.1001/archgenpsychiatry.2009.139)
- Raychaudhuri, S. et al. 2009. Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions. Plos Genetics 5(6), pp. -. (10.1371/journal.pgen.1000534)
- O'Donovan, M. C. et al. 2009. Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2. Molecular Psychiatry 14(1), pp. 30-36. (10.1038/mp.2008.108)
- Purcell, S. M. et al. 2009. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460(7256), pp. 748-752. (10.1038/nature08185)
- Owen, M. J., Williams, H. J. and O'Donovan, M. C. 2009. Schizophrenia genetics: advancing on two fronts. Current Opinion in Genetics & Development 19(3), pp. 266-270. (10.1016/j.gde.2009.02.008)
- Gerrish, A., Williams, H. J., Escott-Price, V., Owen, M. J., O'Donovan, M. C. and Williams, N. M. 2009. An examination of MUTED as a schizophrenia susceptibility gene [Letter]. Schizophrenia Research 107(1), pp. 110-111. (10.1016/j.schres.2008.08.011)
- Williams, H. J., Owen, M. J. and O'Donovan, M. C. 2009. New findings from genetic association studies of schizophrenia. Journal of Human Genetics 54(1), pp. 9-14. (10.1038/jhg.2008.7)
2008
- Williams, N. M. et al. 2008. Strong evidence that GNB1L is associated with schizophrenia. Human Molecular Genetics 17(4), pp. 555-566. (10.1093/hmg/ddm330)
- Buxbaum, J. D. et al. 2008. Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. Molecular psychiatry 13, pp. 162-172. (10.1038/sj.mp.4001991)
- Williams, N. M. et al. 2008. Analysis of copy number variation using quantitative interspecies competitive PCR. Nucleic Acids Research 36(17), pp. e112-e112. (10.1093/nar/gkn495)
- Stone, J. L. et al. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455(7210), pp. 237-241. (10.1038/nature07239)
- O'Donovan, M. C. et al. 2008. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics 40(9), pp. 1053-1055. (10.1038/ng.201)
- Nair, S. et al. 2008. Further evidence for the association of MMP9 with nephropathy in type 2 diabetes and application of DNA pooling technology to candidate gene screening. Journal of Nephology 21(3), pp. 400-405.
2006
- Georgieva, L. et al. 2006. Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. Proceedings of the National Academy of Sciences of the United States of America (PNAS) ISSN 1091-6490 103(33), pp. 12469-12474. (10.1073/pnas.0603029103)
- Williams, N. M. et al. 2006. Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder. Archives of General Psychiatry 63(4), pp. 366-373. (10.1001/archpsyc.63.4.366)
- Norton, N. et al. 2006. Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B(1), pp. 96-101. (10.1002/ajmg.b.30236)
2005
- Hamshere, M. L. et al. 2005. Genomewide linkage scan in schizoaffective disorder: significant evidence for linkage at 1q42 close to DISC1, and suggestive evidence at 22q11 and 19p13. Archives of general psychiatry 62(10), pp. 1081-1088. (10.1001/archpsyc.62.10.1081)
2004
- Monslow, J. et al. 2004. Identification and analysis of the promoter region of the human hyaluronan synthase 2 gene. The Journal of Biological Chemistry 279(20), pp. 20576-20581. (10.1074/jbc.M312666200)
- Williams, N. M. et al. 2004. Support for RGS4 as a susceptibility gene for schizophrenia. Biological Psychiatry 55(2), pp. 192-195. (10.1016/j.biopsych.2003.11.002)
- Williams, N. M. et al. 2004. Identification in two independent samples of a novel schizophrenia risk haplotype of the dystobrevin binding protein gene (DTNBP1). Archives of general psychiatry 61(4), pp. 336-344. (10.1001/archpsyc.61.4.336)
2003
- Williams, N. M. et al. 2003. A systematic genomewide linkage study in 353 sib pairs with schizophrenia. The American journal of human genetics 73(6), pp. 1355-1367. (10.1086/380206)
- Ivanov, D. et al. 2003. Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: Molecular genetic study. The British Journal of Psychiatry 183(5), pp. 409-413. (10.1192/bjp.183.5.409)
- Harper, P., Williams, H., Thomas, N. and Sarfarazi, M. 2003. Prenatal diagnosis of Duchenne dystrophy [Letter]. Lancet 1(8433), pp. 872. (10.1016/S0140-6736(85)92229-9)
- Bray, N. J., Buckland, P. R., Williams, N. M., Williams, H. J., Norton, N., Owen, M. J. and O'Donovan, M. C. 2003. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. The American Journal of Human Genetics 73(1), pp. 152-161. (10.1086/376578)
2002
- Levinson, D. F. et al. 2002. No major schizophrenia locus detected on chromosome 1q in a large multicenter sample. Science 296(5568), pp. 739-741. (10.1126/science.1069914)
- Anney, R. et al. 2002. Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia. Molecular psychiatry 7(5), pp. 493-502. (10.1038/sj.mp.4001003)
- Williams, N. M. et al. 2002. Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Molecular Psychiatry 7(10), pp. 1092-1100. (10.1038/sj.mp.4001188)
- Williams, N. M. et al. 2002. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Molecular Psychiatry 7(5), pp. 508-514. (10.1038/sj.mp.4001030)
2001
- Williams, H. et al. 2001. Association analysis of TBX1 and schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 105(7), pp. 561.
- Bowen, T. et al. 2001. Mutation screening of the KCNN3 gene reveals a rare frameshift mutation [Letter]. Molecular Psychiatry 6(3), pp. 259-260. (10.1038/sj.mp.4000128)
- Williams, N. et al. 2001. Screening of candidate genes related to myelination for mutations associated with schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 105(7), pp. 589.
2000
- Williams, H., Murphy, K., Spurlock, G., O'Donovan, M. and Owen, M. 2000. No association of the -277A variant allele of the UFD1L promoter polymorphism and schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 96(4), pp. 533-534.
- Williams, N. et al. 2000. Identification and characterisation of SNPs in candidate genes for schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 96(4), pp. 462.
- Williams, N. et al. 2000. Linkage disequilibrium mapping and candidate gene screening of the VCFS deleted region for mutations associated with schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 96(4), pp. 475.
1998
- Spurlock, G., Williams, N., Williams, H. and Owen, M. 1998. Polymorphism screening of the human type 1 Sigma (σ) receptor (a candidate gene for schizophrenia) using a modified dideoxy fingerprinting technique. American Journal of Medical Genetics - Neuropsychiatric Genetics 81(6), pp. 525-526.
1986
- Thomas, N., Williams, H., Elsas, L., Hopkins, L., Sarfarazi, M. and Harper, P. 1986. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. Journal of Medical Genetics 23(6), pp. 596-598. (10.1136/jmg.23.6.596)
- Williams, H., Sarfarazi, M., Brown, C., Thomas, N. and Harper, P. 1986. The use of flanking markers in prediction for Duchenne muscular dystrophy. Archives of Disease in Childhood 61(3), pp. 218-222. (10.1136/adc.61.3.218)
- Sarfarazi, M. and Williams, H. 1986. A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information. Journal of Medical Genetics 23(1), pp. 40-45. (10.1136/jmg.23.1.40)
Adrannau llyfrau
- Reid, E. et al. 2016. Seizures due to a KCNQ2 mutation: Treatment with vitamin B6. In: Morava, E. et al. eds. JIMD Reports,., Vol. 27. Berlin and Heidelberg: Springer, pp. 79-84.
Erthyglau
- Jezkova, J., Shaw, S., Taverner, N. V. and Williams, H. J. 2022. Rapid genome sequencing for pediatrics. Human Mutation: Variation, Informatics and Disease 43(11), pp. 1507-1518. (10.1002/humu.24466)
- Akin, L. et al. 2022. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Genetics in Medicine 24(2), pp. 384-397. (10.1016/j.gim.2021.09.019)
- McGlacken-Byrne, S. M. et al. 2022. ZSWIM7 Is associated with human female meiosis and familial primary ovarian insufficiency. Journal of Clinical Endocrinology and Metabolism 107(1), pp. e254-e263., article number: dgab597. (10.1210/clinem/dgab597)
- Hong, Y. et al. 2020. Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene. Neurology Genetics 6(4), article number: e448. (10.1212/NXG.0000000000000448)
- Balogh, E. et al. 2020. Pseudouridylation defect due toDKC1andNOP10mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences 117(26), pp. 15137-15147. (10.1073/pnas.2002328117)
- Cerbone, M. et al. 2019. Sotos Syndrome presenting with neonatal hyperinsulinaemic hypoglycaemia, extensive thrombosis, and multisystem involvement. Hormone Research in Paediatrics 92(1), pp. 64-70. (10.1159/000496545)
- Gregory, L. C. et al. 2019. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis. Journal of Clinical Endocrinology and Metabolism 104(12), pp. 5737-5750. (10.1210/jc.2019-00631)
- Peters, M. J. and Williams, H. J. 2019. Information is the resolution of uncertainty: whole genome approaches to genetic diagnosis on the PICU*. Pediatric Critical Care Medicine 20(11), pp. 1087-1088. (10.1097/PCC.0000000000002091)
- Peters, M. J. and Williams, H. J. 2019. Information is the resolution of uncertainty. Pediatric Critical Care Medicine 20(11), pp. 1087-1088. (10.1097/PCC.0000000000002091)
- Gregory, L. C. et al. 2019. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. EBioMedicine 42, pp. 470-480. (10.1016/j.ebiom.2019.03.013)
- 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)
- Haworth, S. et al. 2019. Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications 10, article number: 357. (10.1038/s41467-018-07863-x)
- Mestek-Boukhibar, L. et al. 2018. Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics 55(11), pp. 721-728. (10.1136/jmedgenet-2018-105396)
- Martin, C. et al. 2018. Erratum: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. American Journal of Human Genetics 103(3), pp. 456. (10.1016/j.ajhg.2018.08.012)
- Martin, C. et al. 2018. Mutations in TOP3A cause a Bloom syndrome-like disorder. American Journal of Human Genetics 103(2), pp. 221-231. (10.1016/j.ajhg.2018.07.001)
- Apps, J. R. et al. 2018. Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica 135, pp. 757-777. (10.1007/s00401-018-1830-2)
- Shoemark, A. et al. 2018. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax 73(2), pp. 157-166. (10.1136/thoraxjnl-2017-209999)
- Reid, E. et al. 2017. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Journal of Inherited Metabolic Disease 40(3), pp. 385-394. (10.1007/s10545-017-0025-7)
- Olcese, C. et al. 2017. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications 8, article number: 14279. (10.1038/ncomms14279)
- Le Quesne Stabej, P. et al. 2017. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Orphanet Journal of Rare Diseases 12, article number: 24. (10.1186/s13023-017-0582-8)
- Oud, M. M. et al. 2017. Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. American Journal of Human Genetics 100(2), pp. 281-296. (10.1016/j.ajhg.2017.01.013)
- Bacchelli, C. and Williams, H. J. 2016. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Review of Molecular Diagnostics 16(10), pp. 1073-1082. (10.1080/14737159.2016.1222906)
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- Gerrish, A., Williams, H. J., Escott-Price, V., Owen, M. J., O'Donovan, M. C. and Williams, N. M. 2009. An examination of MUTED as a schizophrenia susceptibility gene [Letter]. Schizophrenia Research 107(1), pp. 110-111. (10.1016/j.schres.2008.08.011)
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Bywgraffiad
Trosolwg gyrfa
- Uwch Ddarlithydd (2019 - presennol), Is-adran Canser a Geneteg, Prifysgol Caerdydd
- Uwch Gydymaith Ymchwil (2013 - 2018), GOSgene, Sefydliad Iechyd Plant Great Ormond Street, UCL
- Cydymaith Ymchwil (2005 - 2012), Adran Meddygaeth Seicolegol, Prifysgol Caerdydd
- Cynorthwy-ydd Ymchwil (1999 - 2005), Adran Meddygaeth Seicolegol, Prifysgol Caerdydd
- Technegydd Ymchwil (1997 - 1999), Adran Meddygaeth Seicolegol, Prifysgol Caerdydd
Addysg a chymwysterau
- 2018: Cymrawd Cyswllt, Academi Addysg Uwch
- 2005: PhD: Chwilio am genynnau tueddiad sgitsoffrenia ar gromosom 22 (goruchwyliwr Yr Athro Syr Michael J Owen). Prifysgol Caerdydd, Adran Meddygaeth Seicolegol
- 1996: BSc (Anrh): Geneteg, Prifysgol Caerdydd
- 1994: Bioleg Gymhwysol, Sefydliad Prifysgol Cymru Caerdydd
Cyllid grant
- 2022: Grant Hadau Bioenghreifftiol Cynghrair TSC yn llwyddiannus (£11,360) "Defnyddio Trawsgrifiadau Spatial-Transcriptomics i ddiffinio proffil mynegiant genynnau o SEGAs yng Nghymhlyg Sglerosis Tuberous". (Lead-PI)
- 2021: Dyfarniad llwyddiannus o'r Gronfa Seilwaith Ymchwil (£333,000) "Prynu Proffil Gofodol Digidol GeoMx NanoString a nCounter". (Lead-PI)
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2019: Dyfarnu Grant Peilot ISSF3 yn llwyddiannus (£19750) "Nodweddu newidiadau rheoleiddio genynnau mewn iPSCs mutant chd8 dynol yn ystod gwahaniaethu niwral." (cyd-PI, yr Athro Adrian Harwood a Pharc Geneteg Cymru)
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2019: Gwobr lwyddiannus (£1000) gan Bartneriaeth Genomig Cymru i redeg "Gweithdy Diagnostig Cyflym". Cynhadledd agoriadol sy'n dod ag arbenigwyr clinigol ac academaidd o bob rhan o'r DU ac Iwerddon ynghyd i drafod arferion gorau ar gyfer defnyddio technolegau dilyniannu'r genhedlaeth nesaf mewn profion diagnostig clinigol cyflym.
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2018: Gwobr Siaradwr Ymweld â Seilwaith NIHR yn llwyddiannus (£500) i gyflwyno darlith yng Nghanolfan Meddygaeth Genomeg Manceinion.
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2018: Datblygu Gwobr Siaradwr Ymweld â Seilwaith NIHR. (https://www.nihr.ac.uk/our-faculty/trainees/support-and-resources-for-trainees/support-for-trainees-in-nihr-infrastructure/infrastructure-visiting-speaker-award.htm)
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2016: Gwobr lwyddiannus o gymrodoriaeth teithio UCL Bogue (£ 2,850) i ymweld â Phrifysgol Harvard, Canolfan Dana Faber ar gyfer Bioleg Systemau Canser, Boston MA.
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2015: Cyd-ymgeisydd ar gais llwyddiannus i'r elusen Plant â chanser y DU am gyllid o £437,000 ar gyfer prosiect "Nodweddu ac Asesu Moleciwlaidd Biofarcwyr Posibl a Thargedau Cyffuriau Newydd ar gyfer Craniopharyngioma Plentyndod". (Prif Athro PI J.P. Martinez-Barbera)