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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31.
Am J Hum Genet. 2023.
PMID: 36724785
Free PMC article.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network; Campeau PM.
Machol K, et al. Among authors: nixon cy.
Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.
Am J Hum Genet. 2019.
PMID: 30580808
Free PMC article.
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Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
Sundercombe SL, Berbic M, Evans CA, Cliffe C, Elakis G, Temple SEL, Selvanathan A, Ewans L, Quayum N, Nixon CY, Dias KR, Lang S, Richards A, Goh S, Wilson M, Mowat D, Sachdev R, Sandaradura S, Walsh M, Farrar MA, Walsh R, Fletcher J, Kirk EP, Teunisse GM, Schofield D, Buckley MF, Zhu Y, Roscioli T.
Sundercombe SL, et al. Among authors: nixon cy.
J Mol Diagn. 2021 Jul;23(7):894-905. doi: 10.1016/j.jmoldx.2021.04.007. Epub 2021 May 5.
J Mol Diagn. 2021.
PMID: 33962052
Free article.
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CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A, Nixon CY, Zhu Y, Scietti L, Forneris F, Uribe LMM, Lidral AC, Jezewski PA, Mulliken JB, Murray JC, Buckley MF, Cox TC, Roscioli T.
Selvanathan A, et al. Among authors: nixon cy.
Genes (Basel). 2020 Apr 3;11(4):391. doi: 10.3390/genes11040391.
Genes (Basel). 2020.
PMID: 32260281
Free PMC article.
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The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J.
Riley LG, et al. Among authors: nixon cy.
Hum Mutat. 2020 Aug;41(8):1425-1434. doi: 10.1002/humu.24050.
Hum Mutat. 2020.
PMID: 32442335
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Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS.
Kahsar-Miller MD, Nixon C, Boots LR, Go RC, Azziz R.
Kahsar-Miller MD, et al.
Fertil Steril. 2001 Jan;75(1):53-8. doi: 10.1016/s0015-0282(00)01662-9.
Fertil Steril. 2001.
PMID: 11163816
Free article.
Clinical Trial.
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