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Items: 1 to 50 of 1229

1.

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. 2018 Nov 8:e12536. doi: 10.1111/gbb.12536. [Epub ahead of print]

PMID:
30411505
2.

Plasma Tie2 is a tumor vascular response biomarker for VEGF inhibitors in metastatic colorectal cancer.

Jayson GC, Zhou C, Backen A, Horsley L, Marti-Marti K, Shaw D, Mescallado N, Clamp A, Saunders MP, Valle JW, Mullamitha S, Braun M, Hasan J, McEntee D, Simpson K, Little RA, Watson Y, Cheung S, Roberts C, Ashcroft L, Manoharan P, Scherer SJ, Del Puerto O, Jackson A, O'Connor JPB, Parker GJM, Dive C.

Nat Commun. 2018 Nov 7;9(1):4672. doi: 10.1038/s41467-018-07174-1.

3.

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.

4.

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. 2018 Oct 16. pii: jmedgenet-2018-105421. doi: 10.1136/jmedgenet-2018-105421. [Epub ahead of print]

PMID:
30327448
5.

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. 2018 Oct 8. doi: 10.1038/s41436-018-0323-y. [Epub ahead of print]

PMID:
30293988
6.

Targeted sequencing identifies a missense variant in the BEST3 gene associated with antihypertensive response to hydrochlorothiazide.

Singh S, Wang Z, Shahin MH, Langaee TY, Gong Y, Turner ST, Chapman AB, Gums JG, McDonough CW, Bailey KR, Beitelshees AL, Cooper-DeHoff RM, Scherer S, Boerwinkle E, Johnson JA.

Pharmacogenet Genomics. 2018 Nov;28(11):251-255. doi: 10.1097/FPC.0000000000000353.

PMID:
30289819
7.

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.

8.

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. 2018 Sep 20. doi: 10.1038/s41436-018-0260-9. [Epub ahead of print]

PMID:
30232381
9.

Schwann cell-derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment.

Allard DE, Wang Y, Li JJ, Conley B, Xu EW, Sailer D, Kimpston C, Notini R, Smith CJ, Koseoglu E, Starmer J, Zeng XL, Howard JF Jr, Hoke A, Scherer SS, Su MA.

J Clin Invest. 2018 Oct 1;128(10):4727-4741. doi: 10.1172/JCI99308. Epub 2018 Sep 17.

10.

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.

PMID:
30166462
11.

An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).

Uddin KMF, Amin R, Majumder SN, Aleem MA, Rahaman A, Dity NJ, Baqui MDA, Akter H, Rahman MM, Woodbury-Smith M, Scherer S, Uddin M.

Clin Case Rep. 2018 Jun 5;6(8):1426-1430. doi: 10.1002/ccr3.1595. eCollection 2018 Aug.

12.

Build better bones with exercise (B3E pilot trial): results of a feasibility study of a multicenter randomized controlled trial of 12 months of home exercise in older women with vertebral fracture.

Giangregorio LM, Gibbs JC, Templeton JA, Adachi JD, Ashe MC, Bleakney RR, Cheung AM, Hill KD, Kendler DL, Khan AA, Kim S, McArthur C, Mittmann N, Papaioannou A, Prasad S, Scherer SC, Thabane L, Wark JD.

Osteoporos Int. 2018 Nov;29(11):2545-2556. doi: 10.1007/s00198-018-4652-0. Epub 2018 Aug 8.

PMID:
30091064
13.

Reprogramming Human Siderocalin To Neutralize Petrobactin, the Essential Iron Scavenger of Anthrax Bacillus.

Dauner M, Eichinger A, Lücking G, Scherer S, Skerra A.

Angew Chem Int Ed Engl. 2018 Oct 26;57(44):14619-14623. doi: 10.1002/anie.201807442. Epub 2018 Oct 2.

PMID:
30063283
14.

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
15.

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
16.

Myelinated axons fail to develop properly in a genetically authentic mouse model of Charcot-Marie-Tooth disease type 2E.

Lancaster E, Li J, Hanania T, Liem R, Scheideler MA, Scherer SS.

Exp Neurol. 2018 Oct;308:13-25. doi: 10.1016/j.expneurol.2018.06.010. Epub 2018 Jun 22.

PMID:
29940160
17.

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.

18.

Blood pressure signature genes and blood pressure response to thiazide diuretics: results from the PEAR and PEAR-2 studies.

Sá ACC, Webb A, Gong Y, McDonough CW, Shahin MH, Datta S, Langaee TY, Turner ST, Beitelshees AL, Chapman AB, Boerwinkle E, Gums JG, Scherer SE, Cooper-DeHoff RM, Sadee W, Johnson JA.

BMC Med Genomics. 2018 Jun 20;11(1):55. doi: 10.1186/s12920-018-0370-x.

19.

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.

20.

The Novel Anaerobiosis-Responsive Overlapping Gene ano Is Overlapping Antisense to the Annotated Gene ECs2385 of Escherichia coli O157:H7 Sakai.

Hücker SM, Vanderhaeghen S, Abellan-Schneyder I, Scherer S, Neuhaus K.

Front Microbiol. 2018 May 14;9:931. doi: 10.3389/fmicb.2018.00931. eCollection 2018.

21.

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.

22.

Dynamic Proteome Alteration and Functional Modulation of Human Saliva Induced by Dietary Chemosensory Stimuli.

Bader M, Dunkel A, Wenning M, Kohler B, Medard G, Del Castillo E, Gholami A, Kuster B, Scherer S, Hofmann T.

J Agric Food Chem. 2018 Jun 6;66(22):5621-5634. doi: 10.1021/acs.jafc.8b02092. Epub 2018 May 29.

PMID:
29787679
23.

The buffering role of the family in the relationship between job loss and self-perceived health: Longitudinal results from Europe, 2004-2011.

Tattarini G, Grotti R, Scherer S.

Health Place. 2018 Jul;52:55-61. doi: 10.1016/j.healthplace.2018.04.006. Epub 2018 May 26.

PMID:
29777978
24.

Image processing techniques for high-resolution structure determination from badly ordered 2D crystals.

Biyani N, Scherer S, Righetto RD, Kowal J, Chami M, Stahlberg H.

J Struct Biol. 2018 Aug;203(2):120-134. doi: 10.1016/j.jsb.2018.03.013. Epub 2018 Apr 22.

25.

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.

26.

Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients From the PEAR Study (Pharmacogenomic Evaluation of Antihypertensive Responses).

McDonough CW, Magvanjav O, Sá ACC, El Rouby NM, Dave C, Deitchman AN, Kawaguchi-Suzuki M, Mei W, Shen Y, Singh RSP, Solayman M, Bailey KR, Boerwinkle E, Chapman AB, Gums JG, Webb A, Scherer SE, Sadee W, Turner ST, Cooper-DeHoff RM, Gong Y, Johnson JA.

Circ Genom Precis Med. 2018 Apr;11(4):e001854. doi: 10.1161/CIRCGEN.117.001854.

PMID:
29650764
27.

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
28.

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Bardakjian TM, Helbig I, Quinn C, Elman LB, McCluskey LF, Scherer SS, Gonzalez-Alegre P.

Neurogenetics. 2018 May;19(2):105-110. doi: 10.1007/s10048-018-0544-x. Epub 2018 Mar 28.

PMID:
29589152
29.

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.

30.

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.

PMID:
29574884
31.

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
32.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S.

Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.

33.

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes.

Numanagić I, Malikić S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC.

Nat Commun. 2018 Feb 26;9(1):828. doi: 10.1038/s41467-018-03273-1.

34.

Double Triangular Cartilage Excision Otoplasty.

Gualdi A, Cambiaso-Daniel J, Gatti J, Wurzer P, Sljivich M, Scherer SS, Pietramaggiori G, Bertossi D, Botti C, Botti G.

Plast Reconstr Surg. 2018 Mar;141(3):348e-356e. doi: 10.1097/PRS.0000000000004175.

PMID:
29481393
35.

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Saghira C, Bis DM, Stanek D, Strickland A, Herrmann DN, Reilly MM, Scherer SS, Shy ME; Inherited Neuropathy Consortium, Züchner S.

Hum Mutat. 2018 May;39(5):635-642. doi: 10.1002/humu.23412. Epub 2018 Mar 14.

PMID:
29473246
36.

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
37.

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.

PMID:
29453418
38.

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.

39.

A novel short L-arginine responsive protein-coding gene (laoB) antiparallel overlapping to a CadC-like transcriptional regulator in Escherichia coli O157:H7 Sakai originated by overprinting.

Hücker SM, Vanderhaeghen S, Abellan-Schneyder I, Wecko R, Simon S, Scherer S, Neuhaus K.

BMC Evol Biol. 2018 Feb 12;18(1):21. doi: 10.1186/s12862-018-1134-0.

40.

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.

41.

Characterisation of chicken OX40 and OX40L.

Scherer S, Göbel TW.

Dev Comp Immunol. 2018 May;82:128-138. doi: 10.1016/j.dci.2018.01.014. Epub 2018 Feb 3.

PMID:
29407480
42.

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.

43.

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.

44.

Web-Based Stress Management for Newly Diagnosed Patients With Cancer (STREAM): A Randomized, Wait-List Controlled Intervention Study.

Urech C, Grossert A, Alder J, Scherer S, Handschin B, Kasenda B, Borislavova B, Degen S, Erb J, Faessler A, Gattlen L, Schibli S, Werndli C, Gaab J, Berger T, Zumbrunn T, Hess V.

J Clin Oncol. 2018 Mar 10;36(8):780-788. doi: 10.1200/JCO.2017.74.8491. Epub 2018 Jan 25.

45.

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS.

J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.

PMID:
29341354
46.

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
47.

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.

48.

Patterns of cation binding to the aromatic amino acid R groups in Trp, Tyr, and Phe.

Scherer SL, Stewart AL, Fortenberry RC.

Comput Biol Chem. 2018 Feb;72:11-15. doi: 10.1016/j.compbiolchem.2017.12.009. Epub 2017 Dec 27.

PMID:
29291590
49.

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.

50.

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.

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