Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

108 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. De Winter J, et al. Among authors: mcwilliam ca. medRxiv [Preprint]. 2024 Sep 24:2024.09.23.24313872. doi: 10.1101/2024.09.23.24313872. medRxiv. 2024. PMID: 39371122 Free PMC article. Preprint.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D. Gazdagh G, et al. Among authors: mcwilliam c. Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987741 Review.
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland.
Gillingwater TH, McWilliam C, Horrocks I, McWilliam K, Hamilton M, Fletcher E, Williams N, Smith S, Parson SH. Gillingwater TH, et al. Among authors: mcwilliam c. Scott Med J. 2022 Feb;67(1):46-47. doi: 10.1177/00369330221078994. Epub 2022 Feb 11. Scott Med J. 2022. PMID: 35147460 Free PMC article. No abstract available.
Safety and efficacy of pioglitazone for the delay of cognitive impairment in people at risk of Alzheimer's disease (TOMMORROW): a prognostic biomarker study and a phase 3, randomised, double-blind, placebo-controlled trial.
Burns DK, Alexander RC, Welsh-Bohmer KA, Culp M, Chiang C, O'Neil J, Evans RM, Harrigan P, Plassman BL, Burke JR, Wu J, Lutz MW, Haneline S, Schwarz AJ, Schneider LS, Yaffe K, Saunders AM, Ratti E; TOMMORROW study investigators. Burns DK, et al. Lancet Neurol. 2021 Jul;20(7):537-547. doi: 10.1016/S1474-4422(21)00043-0. Lancet Neurol. 2021. PMID: 34146512 Clinical Trial.
Developing and testing a principle-based fidelity index for peer support in mental health services.
Gillard S, Banach N, Barlow E, Byrne J, Foster R, Goldsmith L, Marks J, McWilliam C, Morshead R, Stepanian K, Turner R, Verey A, White S. Gillard S, et al. Among authors: mcwilliam c. Soc Psychiatry Psychiatr Epidemiol. 2021 Oct;56(10):1903-1911. doi: 10.1007/s00127-021-02038-4. Epub 2021 Feb 19. Soc Psychiatry Psychiatr Epidemiol. 2021. PMID: 33606048 Free PMC article.
108 results