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Items: 1 to 20 of 91

1.

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.

Niemi MEK, Martin HC, Rice DL, Gallone G, Gordon S, Kelemen M, McAloney K, McRae J, Radford EJ, Yu S, Gecz J, Martin NG, Wright CF, Fitzpatrick DR, Firth HV, Hurles ME, Barrett JC.

Nature. 2018 Oct;562(7726):268-271. doi: 10.1038/s41586-018-0566-4. Epub 2018 Sep 26.

PMID:
30258228
2.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
3.

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

Singh T, Walters JTR, Johnstone M, Curtis D, Suvisaari J, Torniainen M, Rees E, Iyegbe C, Blackwood D, McIntosh AM, Kirov G, Geschwind D, Murray RM, Di Forti M, Bramon E, Gandal M, Hultman CM, Sklar P; INTERVAL Study; UK10K Consortium, Palotie A, Sullivan PF, O'Donovan MC, Owen MJ, Barrett JC.

Nat Genet. 2017 Aug;49(8):1167-1173. doi: 10.1038/ng.3903. Epub 2017 Jun 26.

4.

Neurocognitive abilities in the general population and composite genetic risk scores for attention-deficit hyperactivity disorder.

Martin J, Hamshere ML, Stergiakouli E, O'Donovan MC, Thapar A.

J Child Psychol Psychiatry. 2015 Jun;56(6):648-56. doi: 10.1111/jcpp.12336. Epub 2014 Oct 3.

5.

Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.

Crawford BD, Gillies CE, Robertson CC, Kretzler M, Otto EA, Vega-Warner V, Sampson MG.

Pediatr Nephrol. 2017 Mar;32(3):467-476. doi: 10.1007/s00467-016-3513-3. Epub 2016 Oct 20. Erratum in: Pediatr Nephrol. 2017 Jul;32(7):1285.

6.

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

Marco EJ, Aitken AB, Nair VP, da Gente G, Gerdes MR, Bologlu L, Thomas S, Sherr EH.

BMC Med Genomics. 2018 May 25;11(1):50. doi: 10.1186/s12920-018-0362-x.

7.

Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders.

Devanna P, Chen XS, Ho J, Gajewski D, Smith SD, Gialluisi A, Francks C, Fisher SE, Newbury DF, Vernes SC.

Mol Psychiatry. 2018 May;23(5):1375-1384. doi: 10.1038/mp.2017.30. Epub 2017 Mar 14.

8.

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.

Almlöf JC, Nystedt S, Leonard D, Eloranta ML, Grosso G, Sjöwall C, Bengtsson AA, Jönsen A, Gunnarsson I, Svenungsson E, Rönnblom L, Sandling JK, Syvänen AC.

Hum Genet. 2019 Feb;138(2):141-150. doi: 10.1007/s00439-018-01966-7. Epub 2019 Feb 1.

9.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC.

Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14.

PMID:
26974950
10.

Rare variants in complex traits: novel identification strategies and the role of de novo mutations.

Jouan L, Gauthier J, Dion PA, Rouleau GA.

Hum Hered. 2012;74(3-4):215-25. doi: 10.1159/000346478. Epub 2013 Apr 11.

11.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE.

N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. Erratum in: N Engl J Med. 2012 Dec 13;367(24):2362.

12.

Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.

Kolevzon A, Cai G, Soorya L, Takahashi N, Grodberg D, Kajiwara Y, Willner JP, Tryfon A, Buxbaum JD.

Brain Res. 2011 Mar 22;1380:98-105. doi: 10.1016/j.brainres.2010.11.005. Epub 2010 Nov 6. Review.

PMID:
21062623
13.

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.

Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A.

Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29.

14.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R.

JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798.

PMID:
28097321
15.

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.

Nguyen HT, Bryois J, Kim A, Dobbyn A, Huckins LM, Munoz-Manchado AB, Ruderfer DM, Genovese G, Fromer M, Xu X, Pinto D, Linnarsson S, Verhage M, Smit AB, Hjerling-Leffler J, Buxbaum JD, Hultman C, Sklar P, Purcell SM, Lage K, He X, Sullivan PF, Stahl EA.

Genome Med. 2017 Dec 20;9(1):114. doi: 10.1186/s13073-017-0497-y.

16.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

de Kovel CGF, Syrbe S, Brilstra EH, Verbeek N, Kerr B, Dubbs H, Bayat A, Desai S, Naidu S, Srivastava S, Cagaylan H, Yis U, Saunders C, Rook M, Plugge S, Muhle H, Afawi Z, Klein KM, Jayaraman V, Rajagopalan R, Goldberg E, Marsh E, Kessler S, Bergqvist C, Conlin LK, Krok BL, Thiffault I, Pendziwiat M, Helbig I, Polster T, Borggraefe I, Lemke JR, van den Boogaardt MJ, Møller RS, Koeleman BPC.

JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714.

17.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ.

Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.

18.

Association of Genetic Risk Variants With Attention-Deficit/Hyperactivity Disorder Trajectories in the General Population.

Riglin L, Collishaw S, Thapar AK, Dalsgaard S, Langley K, Smith GD, Stergiakouli E, Maughan B, O'Donovan MC, Thapar A.

JAMA Psychiatry. 2016 Dec 1;73(12):1285-1292. doi: 10.1001/jamapsychiatry.2016.2817.

PMID:
27806167
19.

Leber Hereditary Optic Neuropathy.

Yu-Wai-Man P, Chinnery PF.

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.
2000 Oct 26 [updated 2016 Jun 23].

20.

Long QT Syndrome.

Alders M, Bikker H, Christiaans I.

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.
2003 Feb 20 [updated 2018 Feb 8].

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