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Items: 1 to 50 of 509

1.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R.

BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y.

PMID:
31288860
Free Article
2.

Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.

Frenkel S, Bernstein CN, Sargent M, Kuang Q, Jiang W, Wei J, Thiruvahindrapuram B, Spriggs E, Scherer SW, Hu P.

PLoS One. 2019 Jun 11;14(6):e0217846. doi: 10.1371/journal.pone.0217846. eCollection 2019.

3.

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group.

Genet Med. 2019 Jun 11. doi: 10.1038/s41436-019-0554-6. [Epub ahead of print]

PMID:
31182824
4.

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR.

Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16.

PMID:
31104771
5.

Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants.

Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC, Scherer SW.

NPJ Genom Med. 2019 Apr 26;4:9. doi: 10.1038/s41525-019-0083-x. eCollection 2019.

6.

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.

Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA.

Ann Clin Transl Neurol. 2019 Mar 7;6(4):807-811. doi: 10.1002/acn3.727. eCollection 2019 Apr.

7.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
8.

SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.

Zaslavsky K, Zhang WB, McCready FP, Rodrigues DC, Deneault E, Loo C, Zhao M, Ross PJ, El Hajjar J, Romm A, Thompson T, Piekna A, Wei W, Wang Z, Khattak S, Mufteev M, Pasceri P, Scherer SW, Salter MW, Ellis J.

Nat Neurosci. 2019 Apr;22(4):556-564. doi: 10.1038/s41593-019-0365-8. Epub 2019 Mar 25.

PMID:
30911184
9.

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism.

Davis JM, Heft I, Scherer SW, Sikela JM.

Am J Psychiatry. 2019 Feb 15:appiajp201818080993. doi: 10.1176/appi.ajp.2018.18080993. [Epub ahead of print]

PMID:
30764650
10.

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW.

Stem Cell Reports. 2019 Feb 12;12(2):427-429. doi: 10.1016/j.stemcr.2019.01.008. No abstract available.

11.

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.

Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RK, Singh KK, Ellis J, Scherer SW.

Elife. 2019 Feb 12;8. pii: e40092. doi: 10.7554/eLife.40092.

12.

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.

Costain G, Walker S, Argiropoulos B, Baribeau DA, Bassett AS, Boot E, Devriendt K, Kellam B, Marshall CR, Prasad A, Serrano MA, Stavropoulos DJ, Twede H, Vermeesch JR, Vorstman JAS, Scherer SW.

J Neurodev Disord. 2019 Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3.

13.

Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network.

Baribeau DA, Dupuis A, Paton TA, Hammill C, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Kushki A, Lerch JP, Anagnostou E.

Transl Psychiatry. 2019 Feb 4;9(1):72. doi: 10.1038/s41398-019-0382-0.

14.

STXBP1 encephalopathy is associated with awake bruxism.

Rezazadeh A, Uddin M, Snead OC 3rd, Lira V, Silberberg A, Weiss S, Donner EJ, Zak M, Bradbury L, Scherer SW, Fasano A, Andrade DM.

Epilepsy Behav. 2019 Mar;92:121-124. doi: 10.1016/j.yebeh.2018.12.018. Epub 2019 Jan 14.

PMID:
30654231
15.

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Alkhater RA, Scherer SW, Minassian BA, Walker S.

Ann Clin Transl Neurol. 2018 Oct 24;5(12):1617-1621. doi: 10.1002/acn3.677. eCollection 2018 Dec.

16.

Rare copy number variation in extremely impulsively violent males.

Vevera J, Zarrei M, Hartmannová H, Jedličková I, Mušálková D, Přistoupilová A, Oliveriusová P, Trešlová H, Nosková L, Hodaňová K, Stránecký V, Jiřička V, Preiss M, Příhodová K, Šaligová J, Wei J, Woodbury-Smith M, Bleyer AJ, Scherer SW, Kmoch S.

Genes Brain Behav. 2019 Jul;18(6):e12536. doi: 10.1111/gbb.12536. Epub 2018 Dec 3.

PMID:
30411505
17.

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.

Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW.

Stem Cell Reports. 2018 Nov 13;11(5):1211-1225. doi: 10.1016/j.stemcr.2018.10.003. Epub 2018 Nov 1. Erratum in: Stem Cell Reports. 2019 Feb 12;12(2):427-429.

18.

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y.

J Med Genet. 2019 May;56(5):340-346. doi: 10.1136/jmedgenet-2018-105421. Epub 2018 Oct 16.

PMID:
30327448
19.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.

PMID:
30293988
20.

Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders.

Hoang N, Buchanan JA, Scherer SW.

NPJ Genom Med. 2018 Sep 19;3:27. doi: 10.1038/s41525-018-0066-3. eCollection 2018. No abstract available.

21.

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.

Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS.

Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20.

PMID:
30232381
22.

Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.

Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M, Davidson S, Zarrei M, Id Said B, Schreiner LC, Marchand R, Sitter J, Gokgoz N, Brunga L, Graham GT, Fullam A, Pillay N, Toretsky JA, Yoshida A, Shibata T, Metzler M, Somers GR, Scherer SW, Flanagan AM, Campbell PJ, Schiffman JD, Shago M, Alexandrov LB, Wunder JS, Andrulis IL, Malkin D, Behjati S, Shlien A.

Science. 2018 Aug 31;361(6405). pii: eaam8419. doi: 10.1126/science.aam8419.

23.

Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.

Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B.

J Med Genet. 2018 Dec;55(12):847-852. doi: 10.1136/jmedgenet-2018-105328. Epub 2018 Jul 14.

PMID:
30007940
24.

Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity.

Selvanayagam T, Walker S, Gazzellone MJ, Kellam B, Cytrynbaum C, Stavropoulos DJ, Li P, Birken CS, Hamilton J, Weksberg R, Scherer SW.

Eur J Hum Genet. 2018 Nov;26(11):1588-1596. doi: 10.1038/s41431-018-0189-0. Epub 2018 Jul 5.

PMID:
29976977
25.

Analysis of shared heritability in common disorders of the brain.

Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Mühleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QS, Nauck M, Schoevers RA, Beekman AT, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosário M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Lee Chee Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM, Schott JM, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg HJ, Murray R.

Science. 2018 Jun 22;360(6395). pii: eaap8757. doi: 10.1126/science.aap8757.

26.

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.

Woodbury-Smith M, Paterson AD, O'Connor I, Zarrei M, Yuen RKC, Howe JL, Thompson A, Parlier M, Fernandez B, Piven J, Scherer SW, Vieland V, Szatmari P.

J Neurodev Disord. 2018 Jun 11;10(1):20. doi: 10.1186/s11689-018-9238-9.

27.

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA.

Neurol Genet. 2018 May 18;4(3):e242. doi: 10.1212/NXG.0000000000000242. eCollection 2018 Jun.

28.

Paternally inherited cis-regulatory structural variants are associated with autism.

Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J.

Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261.

29.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.

PMID:
29599419
30.

Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

Panjwani N, Xiao B, Xu L, Gong J, Keenan K, Lin F, He G, Baskurt Z, Kim S, Zhang L, Esmaeili M, Blackman S, Scherer SW, Corvol H, Drumm M, Knowles M, Cutting G, Rommens JM, Sun L, Strug LJ.

NPJ Genom Med. 2018 Mar 20;3:8. doi: 10.1038/s41525-018-0047-6. eCollection 2018.

31.

Progress in the genetics of autism spectrum disorder.

Woodbury-Smith M, Scherer SW.

Dev Med Child Neurol. 2018 May;60(5):445-451. doi: 10.1111/dmcn.13717. Epub 2018 Mar 25. Review.

32.

Copy number variation in fetal alcohol spectrum disorder.

Zarrei M, Hicks GG, Reynolds JN, Thiruvahindrapuram B, Engchuan W, Pind M, Lamoureux S, Wei J, Wang Z, Marshall CR, Wintle RF, Chudley AE, Scherer SW.

Biochem Cell Biol. 2018 Apr;96(2):161-166. doi: 10.1139/bcb-2017-0241. Epub 2018 Mar 13.

PMID:
29533680
33.

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.

Richter M, Murtaza N, Scharrenberg R, White SH, Johanns O, Walker S, Yuen RKC, Schwanke B, Bedürftig B, Henis M, Scharf S, Kraus V, Dörk R, Hellmann J, Lindenmaier Z, Ellegood J, Hartung H, Kwan V, Sedlacik J, Fiehler J, Schweizer M, Lerch JP, Hanganu-Opatz IL, Morellini F, Scherer SW, Singh KK, Calderon de Anda F.

Mol Psychiatry. 2018 Feb 21. doi: 10.1038/s41380-018-0025-5. [Epub ahead of print]

PMID:
29467497
34.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.

35.

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW.

G3 (Bethesda). 2018 Mar 28;8(4):1115-1118. doi: 10.1534/g3.118.200080.

36.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

37.

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.

Fernandez BA, Scherer SW.

Dialogues Clin Neurosci. 2017 Dec;19(4):353-371. Review.

38.

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.

Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK.

Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006.

39.

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

Stamouli S, Anderlid BM, Willfors C, Thiruvahindrapuram B, Wei J, Berggren S, Nordgren A, Scherer SW, Lichtenstein P, Tammimies K, Bölte S.

Twin Res Hum Genet. 2018 Feb;21(1):1-11. doi: 10.1017/thg.2017.69. Epub 2018 Jan 8.

PMID:
29307321
40.

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D, Scherer SW.

Am J Hum Genet. 2018 Jan 4;102(1):142-155. doi: 10.1016/j.ajhg.2017.12.007.

41.

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C.

Neurol Genet. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199. eCollection 2017 Dec.

42.

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

Dale B, Modi BM, Jilderda S, McConnell B, Hoang N, Swaroop P, Falcon J, Thiruvahindrapuram B, Walker S, Scherer SW, Stavropoulos DJ, Drmic IE, Carter MT.

NPJ Genom Med. 2017 Sep 28;2:28. doi: 10.1038/s41525-017-0031-6. eCollection 2017.

43.

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S.

NPJ Genom Med. 2017 May 26;2:19. doi: 10.1038/s41525-017-0021-8. eCollection 2017.

44.

Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects.

de Jesús Ascencio-Montiel I, Pinto D, Parra EJ, Valladares-Salgado A, Cruz M, Scherer SW.

Sci Rep. 2017 Dec 6;7(1):17105. doi: 10.1038/s41598-017-17361-7.

45.

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.

Lowther C, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS.

Genome Med. 2017 Nov 30;9(1):105. doi: 10.1186/s13073-017-0488-z.

46.

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ.

Eur J Hum Genet. 2017 Dec;25(12):1303-1312. doi: 10.1038/s41431-017-0020-3. Epub 2017 Nov 20.

47.

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.

Zhang Y, Liu Y, Zarrei M, Tong W, Dong R, Wang Y, Zhang H, Yang X, MacDonald JR, Uddin M, Scherer SW, Gai Z.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):93-100. doi: 10.1002/ajmg.b.32608. Epub 2017 Nov 20.

PMID:
29152845
48.

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.

Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW.

Mol Autism. 2017 Nov 9;8:59. doi: 10.1186/s13229-017-0175-3. eCollection 2017.

49.

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA.

Neurol Genet. 2017 Sep 22;3(5):e189. doi: 10.1212/NXG.0000000000000189. eCollection 2017 Oct. No abstract available.

50.

Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.

Baribeau DA, Dupuis A, Paton TA, Scherer SW, Schachar RJ, Arnold PD, Szatmari P, Nicolson R, Georgiades S, Crosbie J, Brian J, Iaboni A, Lerch J, Anagnostou E.

Sci Rep. 2017 Sep 14;7(1):11618. doi: 10.1038/s41598-017-10821-0.

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