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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

33 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: douglas agl. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Martinez-Falero BS, Koutalopoulou A, Douglas AGL, Kharbanda M, Collinson MN, Lotery A, Lotery H. Martinez-Falero BS, et al. Among authors: douglas agl. Clin Exp Dermatol. 2022 Dec;47(12):2342-2345. doi: 10.1111/ced.15355. Epub 2022 Sep 30. Clin Exp Dermatol. 2022. PMID: 36178237
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Douglas AG, Andreoletti G, Talbot K, Hammans SR, Singh J, Whitney A, Ennis S, Foulds NC. Douglas AG, et al. Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22. Neurogenetics. 2017. PMID: 28229249 Free PMC article.
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AGL, Varela MA, Sathyaprakash C, Scaber J, Barbagallo P, Vader P, Mäger I, Ezzat K, Turner MR, Ito N, Gasco S, Ohbayashi N, El Andaloussi S, Takeda S, Fukuda M, Talbot K, Wood MJA. Aoki Y, et al. Among authors: douglas agl. Brain. 2017 Apr 1;140(4):887-897. doi: 10.1093/brain/awx024. Brain. 2017. PMID: 28334866
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V, Amiel J, Lehalle D, Newman WG, Newkirk P, Ranells J, Splitt M, Cross LA, Saunders CJ, Sullivan BR, Granadillo JL, Gordon CT, Kasher PR, Pavitt GD, Banka S. Faundes V, et al. Among authors: douglas agl. Nat Commun. 2021 Feb 5;12(1):833. doi: 10.1038/s41467-021-21053-2. Nat Commun. 2021. PMID: 33547280 Free PMC article.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. Ostrowski PJ, et al. Among authors: douglas agl. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 31721432
Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Oláhová M. Nolden KA, et al. Life Sci Alliance. 2022 Aug 1;5(12):e202101284. doi: 10.26508/lsa.202101284. Life Sci Alliance. 2022. PMID: 35914810 Free PMC article.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: douglas agl. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z, Calpena E, Pei Y, Tooze RS, Brittain H, Twigg SRF, Cilliers D, Morton JEV, McCann E, Weber A, Wilson LC, Douglas AGL, McGowan R, Need A, Bond A, Tavares ALT, Thomas ERA; Genomics England Research Consortium; Hill SL, Deans ZC, Boardman-Pretty F, Caulfield M, Scott RH, Wilkie AOM. Hyder Z, et al. Among authors: douglas agl. Genet Med. 2021 Dec;23(12):2360-2368. doi: 10.1038/s41436-021-01297-5. Epub 2021 Aug 25. Genet Med. 2021. PMID: 34429528 Free PMC article.
33 results