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Page 1
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: turner cls. Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002. Genet Med. 2022. PMID: 35394429 Free article. No abstract available.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K. Guimier A, et al. Among authors: turner cls. Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16. Genet Med. 2021. PMID: 34400813 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Mosaic Turner syndrome shows reduced penetrance in an adult population study.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Tuke MA, et al. Among authors: turner cls. Genet Med. 2019 Apr;21(4):877-886. doi: 10.1038/s41436-018-0271-6. Epub 2018 Sep 5. Genet Med. 2019. PMID: 30181606 Free PMC article.
Response to Prakash et al.
Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Tuke MA, et al. Among authors: turner cls. Genet Med. 2019 Aug;21(8):1884-1885. doi: 10.1038/s41436-018-0412-y. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573795 Free article. No abstract available.
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. Mulchandani S, et al. Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6. Genet Med. 2016. PMID: 26248010 Free article.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, Buiting K, Chokkalingam K, Degenhardt F, Wakeling EL, Kleinle S, González Fassrainer D, Oehl-Jaschkowitz B, Turner CLS, Patalan M, Gizewska M, Binder G, Bich Ngoc CT, Chi Dung V, Mehta SG, Baynam G, Hamilton-Shield JP, Aljareh S, Lokulo-Sodipe O, Horton R, Siebert R, Elbracht M, Temple IK, Eggermann T, Mackay DJG. Begemann M, et al. Among authors: turner cls. J Med Genet. 2018 Jul;55(7):497-504. doi: 10.1136/jmedgenet-2017-105190. Epub 2018 Mar 24. J Med Genet. 2018. PMID: 29574422 Free PMC article.
26 results