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

289 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: amor dj. HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047860 Free PMC article.
Characterization of speech and language phenotype in children with NRXN1 deletions.
Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT. Brignell A, et al. Among authors: amor dj. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):700-708. doi: 10.1002/ajmg.b.32664. Epub 2018 Oct 25. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30358070
Speech and language in children with Klinefelter syndrome.
St John M, Ponchard C, van Reyk O, Mei C, Pigdon L, Amor DJ, Morgan AT. St John M, et al. Among authors: amor dj. J Commun Disord. 2019 Mar-Apr;78:84-96. doi: 10.1016/j.jcomdis.2019.02.003. Epub 2019 Feb 12. J Commun Disord. 2019. PMID: 30822601
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
MacLennan AH, Lewis S, Moreno-De-Luca A, Fahey M, Leventer RJ, McIntyre S, Ben-Pazi H, Corbett M, Wang X, Baynam G, Fehlings D, Kurian MA, Zhu C, Himmelmann K, Smithers-Sheedy H, Wilson Y, Ocaña CS, van Eyk C, Badawi N, Wintle RF, Jacobsson B, Amor DJ, Mallard C, Pérez-Jurado LA, Hallman M, Rosenbaum PJ, Kruer MC, Gecz J. MacLennan AH, et al. Among authors: amor dj. J Child Neurol. 2019 Jul;34(8):472-476. doi: 10.1177/0883073819840449. Epub 2019 Apr 9. J Child Neurol. 2019. PMID: 30963790 Free PMC article. Review.
Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome.
Shepherd DA, Vos N, Reid SM, Godler DE, Guzys A, Moreno-Betancur M, Amor DJ. Shepherd DA, et al. Among authors: amor dj. Genes (Basel). 2020 Jul 2;11(7):736. doi: 10.3390/genes11070736. Genes (Basel). 2020. PMID: 32630716 Free PMC article.
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
Brignell A, Gu C, Holm A, Carrigg B, Sheppard DA, Amor DJ, Morgan AT. Brignell A, et al. Among authors: amor dj. Eur J Hum Genet. 2021 Apr;29(4):564-574. doi: 10.1038/s41431-020-00761-1. Epub 2020 Dec 8. Eur J Hum Genet. 2021. PMID: 33293697 Free PMC article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: amor dj. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
289 results