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

40 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group. von Spiczak S, et al. Among authors: mclean sd. Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30. Neurology. 2017. PMID: 28667181 Free PMC article.
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. Johannesen KM, et al. Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042906 Free PMC article.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Davids M, et al. Among authors: mclean sd. Mol Genet Metab. 2020 May;130(1):49-57. doi: 10.1016/j.ymgme.2020.02.005. Epub 2020 Feb 10. Mol Genet Metab. 2020. PMID: 32165008 Free PMC article.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study; Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM. Reijnders MRF, et al. Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31. Am J Hum Genet. 2018. PMID: 29861108 Free PMC article.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA. Tokita MJ, et al. Among authors: mclean sd. Am J Hum Genet. 2016 Sep 1;99(3):720-727. doi: 10.1016/j.ajhg.2016.06.035. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545676 Free PMC article.
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.
Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, Agopian AJ. Benjamin RH, et al. Among authors: mclean sd. Birth Defects Res. 2019 Nov 1;111(18):1356-1364. doi: 10.1002/bdr2.1549. Epub 2019 Jul 16. Birth Defects Res. 2019. PMID: 31313535 Free PMC article.
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
Oluwafemi OO, Benjamin RH, Navarro Sanchez ML, Scheuerle AE, Schaaf CP, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scott DA, Northrup H, Ray JW, McLean SD, Ludorf KL, Chen H, Lupo PJ, Agopian AJ. Oluwafemi OO, et al. Among authors: mclean sd. Am J Med Genet A. 2020 Nov;182(11):2581-2593. doi: 10.1002/ajmg.a.61830. Epub 2020 Sep 4. Am J Med Genet A. 2020. PMID: 32885608 Free PMC article.
40 results