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

195 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: smedley d. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, Henderson S, Patch C, O'Neill A, Devereau A, Smith K, Martin AR, Sosinsky A, McDonagh EM, Sultana R, Mueller M, Smedley D, Toms A, Dinh L, Fowler T, Bale M, Hubbard T, Rendon A, Hill S, Caulfield MJ; 100 000 Genomes Project. Turnbull C, et al. Among authors: smedley d. BMJ. 2018 Apr 24;361:k1687. doi: 10.1136/bmj.k1687. BMJ. 2018. PMID: 29691228 No abstract available.
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, Thomas E, Scott RH, Baple E, Tucci A, Brittain H, de Burca A, Ibañez K, Kasperaviciute D, Smedley D, Caulfield M, Rendon A, McDonagh EM. Martin AR, et al. Among authors: smedley d. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2. Nat Genet. 2019. PMID: 31676867 No abstract available.
Human and mouse essentiality screens as a resource for disease gene discovery.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, Beaudet AL, Heaney JD, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott CJ, Wardle-Jones H, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams DJ, Seavitt JR, Tocchini-Valentini G, Mammano F, Braun RE, McKerlie C, Herault Y, de Angelis MH, Mallon AM, Lloyd KCK, Brown SDM, Parkinson H, Meehan TF, Smedley D; Genomics England Research Consortium; International Mouse Phenotyping Consortium. Cacheiro P, et al. Among authors: smedley d. Nat Commun. 2020 Jan 31;11(1):655. doi: 10.1038/s41467-020-14284-2. Nat Commun. 2020. PMID: 32005800 Free PMC article.
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris T, Smedley D, Cipriani V, Sheikh I, Athanasiou-Fragkouli A, Chinnery P, Morris H, Real R, Harrison V, Reid E, Wood N; Genomics England Research Consortium; Vandrovcova J, Houlden H, Tucci A. Bourinaris T, et al. Among authors: smedley d. Eur J Hum Genet. 2020 Dec;28(12):1763-1768. doi: 10.1038/s41431-020-00720-w. Epub 2020 Sep 15. Eur J Hum Genet. 2020. PMID: 32934340 Free PMC article.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: smedley d. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
195 results