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Items: 1 to 20 of 123

1.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium.

Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019.

2.

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.

Sanchis-Juan A, Bitsara C, Low KY, Carss KJ, French CE, Spasic-Boskovic O, Jarvis J, Field M, Raymond FL, Grozeva D.

Front Genet. 2019 Jun 26;10:578. doi: 10.3389/fgene.2019.00578. eCollection 2019.

3.

Delineating the expanding phenotype associated with SCAPER gene mutation.

Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium.

Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. No abstract available.

4.

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.

Dolzhenko E, Deshpande V, Schlesinger F, Krusche P, Petrovski R, Chen S, Emig-Agius D, Gross A, Narzisi G, Bowman B, Scheffler K, van Vugt JJFA, French C, Sanchis-Juan A, Ibáñez K, Tucci A, Lajoie BR, Veldink JH, Raymond FL, Taft RJ, Bentley DR, Eberle MA.

Bioinformatics. 2019 Nov 1;35(22):4754-4756. doi: 10.1093/bioinformatics/btz431.

5.

Germline selection shapes human mitochondrial DNA diversity.

Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.

Science. 2019 May 24;364(6442). pii: eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.

6.

Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.

Chawner SJRA, Owen MJ, Holmans P, Raymond FL, Skuse D, Hall J, van den Bree MBM.

Lancet Psychiatry. 2019 Jun;6(6):493-505. doi: 10.1016/S2215-0366(19)30123-3. Epub 2019 May 2.

PMID:
31056457
7.

Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

Jones HF, Morales-Briceño H, Barwick K, Lewis J, Sanchis-Juan A, Raymond FL, Stewart K, Waugh MC, Mahant N, Kurian MA, Dale RC, Mohammad SS.

Mov Disord. 2019 Jul;34(7):1079-1080. doi: 10.1002/mds.27708. Epub 2019 Apr 29. No abstract available.

PMID:
31034681
8.

Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities.

Srinivasan R, Wolstencroft J, Erwood M, Raymond FL, van den Bree M, Hall J, Skuse D; IMAGINE ID Consortium.

J Intellect Disabil Res. 2019 May;63(5):477-488. doi: 10.1111/jir.12607.

PMID:
30993819
9.

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.

Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.

10.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

11.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.

French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H; NIHR BioResource—Rare Disease; Next Generation Children Project, Rowitch DH, Raymond FL.

Intensive Care Med. 2019 May;45(5):627-636. doi: 10.1007/s00134-019-05552-x. Epub 2019 Mar 7.

12.

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.

Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, van den Bree MBM.

Transl Psychiatry. 2019 Mar 5;9(1):107. doi: 10.1038/s41398-019-0441-6.

13.

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.

Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL; DDD Study, Clayton-Smith J.

Am J Med Genet A. 2019 Apr;179(4):570-578. doi: 10.1002/ajmg.a.61061. Epub 2019 Feb 7.

PMID:
30734472
14.

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR.

Hum Mutat. 2019 May;40(5):578-587. doi: 10.1002/humu.23715. Epub 2019 Feb 14.

PMID:
30710461
15.

Psychiatric disorders in children with 16p11.2 deletion and duplication.

Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, Bree MBMVD.

Transl Psychiatry. 2019 Jan 16;9(1):8. doi: 10.1038/s41398-018-0339-8. Erratum in: Transl Psychiatry. 2019 Mar 5;9(1):107.

16.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM.

Genet Med. 2019 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15.

17.

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.

de Brouwer APM, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S.

Am J Hum Genet. 2018 Dec 6;103(6):1045-1052. doi: 10.1016/j.ajhg.2018.10.026.

18.

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.

Sanchis-Juan A, Stephens J, French CE, Gleadall N, Mégy K, Penkett C, Shamardina O, Stirrups K, Delon I, Dewhurst E, Dolling H, Erwood M, Grozeva D, Stefanucci L, Arno G, Webster AR, Cole T, Austin T, Branco RG, Ouwehand WH, Raymond FL, Carss KJ.

Genome Med. 2018 Dec 7;10(1):95. doi: 10.1186/s13073-018-0606-6.

19.

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.

Yates TM, Langley CLM; DDD Study, Grozeva D, Raymond FL, Johnson DS.

Clin Genet. 2019 Feb;95(2):334-335. doi: 10.1111/cge.13456. Epub 2018 Oct 24. No abstract available.

PMID:
30353918
20.

NSDHL-Related Disorders.

du Souich C, Raymond FL, Grzeschik KH, Boerkoel CF.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 Feb 1 [updated 2018 Oct 25].

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