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

Edit custom filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

505 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.
McGuigan A, Pagnamenta AT, Covill LE, Samson J, Camps C, Chen Y, Moitra T, Chundru K, O'Heir E, Allan K, Arno G, Broomfield A, Delatycki M, Lin S, Michaelides M, Rius R, Roscioli T, Simons C, Webster A, White SM, Wilson L, Sanders SJ, O'Donnell-Luria A, Ellingford JM, Taylor JC, Whiffin N. McGuigan A, et al. Among authors: delatycki m. medRxiv [Preprint]. 2026 May 15:2026.05.13.26352722. doi: 10.64898/2026.05.13.26352722. medRxiv. 2026. PMID: 42180369 Free PMC article. Preprint.
ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.
Bandi V, Venema M, Wallace I, Mol MO, Nikoncuk A, Schot R, van Slegtenhorst M, Bijlsma EK, Khan A, White SM, Rius R, Delatycki MB, Narayanan V, Swatek KN, Barakat TS, Bustos F. Bandi V, et al. Among authors: delatycki mb. iScience. 2026 Mar 30;29(5):115454. doi: 10.1016/j.isci.2026.115454. eCollection 2026 May 15. iScience. 2026. PMID: 42023152 Free PMC article.
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia.
Rummey C, Blair IA, Mesaros C, Rojsajjakul T, Dong Y, Wilmot G, Zesiewicz T, Mathews K, Hoyle JC, Seeberger L, Corben LA, Delatycki MB, Finkel RS, Roxburgh RH, Duquette A, Yoon G, Gomez CM, Subramony SH, Perlman S, Mccormack S, Lynch DR. Rummey C, et al. Among authors: delatycki mb. BMJ Neurol Open. 2026 Mar 23;8(1):e001561. doi: 10.1136/bmjno-2026-001561. eCollection 2026. BMJ Neurol Open. 2026. PMID: 41919005 Free PMC article.
Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis.
Maddock ML, Miellet S, Dongol A, Hulme AJ, Kennedy CK, Corben LA, Finol-Urdaneta RK, Nettel-Aguirre A, Dionisi C, Delatycki MB, Gottesfeld JM, Pandolfo M, Soragni E, Bidichandani SI, Lees JG, Lim SY, Napierala JS, Napierala M, Dottori M. Maddock ML, et al. Among authors: delatycki mb. bioRxiv [Preprint]. 2026 Mar 20:2026.03.18.712785. doi: 10.64898/2026.03.18.712785. bioRxiv. 2026. PMID: 41890103 Free PMC article. Preprint.
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning.
Pontillo G, Penna S, Arrigoni F, Bender B, Boesch S, Brunetti A, Cendes F, Chopra S, Corben LA, Deistung A, Delatycki MB, Diciotti S, Dogan I, Egan GF, França MC Jr, Georgiou-Karistianis N, Göricke SL, Henry PG, Hernandez-Castillo CR, Hutter D, Joers JM, Lenglet C, Lindig T, Lodi R, Manners DN, Martinez ARM, Martinuzzi A, Marzi C, Mascalchi M, Nachbauer W, Pane C, Peruzzo D, Pishardy PK, Reetz K, Rezende TJR, Romanzetti S, Saccà F, Schoels L, Schulz JB, Stefani A, Synofzik M, Thomopoulos SI, Thompson PM, Timmann D, Tonon C, Vavla M, Harding IH, Cocozza S. Pontillo G, et al. Among authors: delatycki mb. Radiology. 2026 Mar;318(3):e251386. doi: 10.1148/radiol.251386. Radiology. 2026. PMID: 41805414
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.
Hoogwijs I, Mandelstam SA, McGillivray G, Halliday BJ, Yiu EM, Macdonald-Laurs E, Perry D, Patel R, Gabbett M, Patel C, Malone S, Fahey M, Gill D, Field M, Delatycki MB, Mohammad S, Berkovic SF, Scheffer IE, Lockhart PJ, Jackson GD, Jansen AC, Robertson SP, Leventer RJ. Hoogwijs I, et al. Among authors: delatycki mb. Eur J Paediatr Neurol. 2026 Jan;60:78-85. doi: 10.1016/j.ejpn.2025.12.004. Epub 2025 Dec 29. Eur J Paediatr Neurol. 2026. PMID: 41468712
505 results