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Items: 1 to 50 of 1285

1.

A large data resource of genomic copy number variation across neurodevelopmental disorders.

Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, Miron K, Lu C, Wang T, Samler K, Wang X, Costain G, Hoang N, Pellecchia G, Wei J, Patel RV, Thiruvahindrapuram B, Roifman M, Merico D, Goodale T, Drmic I, Speevak M, Howe JL, Yuen RKC, Buchanan JA, Vorstman JAS, Marshall CR, Wintle RF, Rosenberg DR, Hanna GL, Woodbury-Smith M, Cytrynbaum C, Zwaigenbaum L, Elsabbagh M, Flanagan J, Fernandez BA, Carter MT, Szatmari P, Roberts W, Lerch J, Liu X, Nicolson R, Georgiades S, Weksberg R, Arnold PD, Bassett AS, Crosbie J, Schachar R, Stavropoulos DJ, Anagnostou E, Scherer SW.

NPJ Genom Med. 2019 Oct 7;4:26. doi: 10.1038/s41525-019-0098-3. eCollection 2019.

PMID:
31602316
2.

VikNGS: A C ++ Variant Integration Kit for Next Generation Sequencing Association Analysis.

Baskurt Z, Mastromatteo S, Gong J, Wintle RF, Scherer SW, Strug LJ.

Bioinformatics. 2019 Oct 3. pii: btz716. doi: 10.1093/bioinformatics/btz716. [Epub ahead of print]

PMID:
31580400
3.

Association between distress and knowledge among parents of autistic children.

Yusuf A, Peltekova I, Savion-Lemieux T, Frei J, Bruno R, Joober R, Howe J, Scherer SW, Elsabbagh M.

PLoS One. 2019 Sep 26;14(9):e0223119. doi: 10.1371/journal.pone.0223119. eCollection 2019.

4.

Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS.

Ross PJ, Zhang WB, Mok RSF, Zaslavsky K, Deneault E, D'Abate L, Rodrigues DC, Yuen RKC, Faheem M, Mufteev M, Piekna A, Wei W, Pasceri P, Landa RJ, Nagy A, Varga B, Salter MW, Scherer SW, Ellis J.

Biol Psychiatry. 2019 Jul 29. pii: S0006-3223(19)31547-1. doi: 10.1016/j.biopsych.2019.07.014. [Epub ahead of print]

5.

Impact of DNA source on genetic variant detection from human whole-genome sequencing data.

Trost B, Walker S, Haider SA, Sung WWL, Pereira S, Phillips CL, Higginbotham EJ, Strug LJ, Nguyen C, Raajkumar A, Szego MJ, Marshall CR, Scherer SW.

J Med Genet. 2019 Sep 12. pii: jmedgenet-2019-106281. doi: 10.1136/jmedgenet-2019-106281. [Epub ahead of print]

6.

Testing a multidimensional model of emotional labor, emotional abilities, and exhaustion: A multilevel, multimethod approach.

Scherer S, Zapf D, Beitler LA, Trumpold K.

J Occup Health Psychol. 2019 Aug 29. doi: 10.1037/ocp0000166. [Epub ahead of print]

PMID:
31464459
7.

The Greater Occipital Nerve and Obliquus Capitis Inferior Muscle: Anatomical Interactions and Implications for Occipital Pain Syndromes.

Scherer SS, Schiraldi L, Sapino G, Cambiaso-Daniel J, Gualdi A, Peled ZM, Hagan R, Pietramaggiori G.

Plast Reconstr Surg. 2019 Sep;144(3):730-736. doi: 10.1097/PRS.0000000000005945.

PMID:
31461039
8.

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy.

Bardakjian T, Scherer SS.

J Neuromuscul Dis. 2019;6(3):385-387. doi: 10.3233/JND-190400. No abstract available.

PMID:
31424416
9.

Relevance of Donor-Specific Antibody Monitoring after Kidney Transplantation: Findings from the Collaborative Transplant Study and the Heidelberg Transplant Center.

Süsal C, Aykut G, Morath C, Fichtner A, Unterrainer C, Scherer S, Tran TH, Mehrabi A, Zeier M, Tönshoff B.

HLA. 2019 Aug 12. doi: 10.1111/tan.13665. [Epub ahead of print]

PMID:
31403240
10.

Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.

Carbonell AU, Cho CH, Tindi JO, Counts PA, Bates JC, Erdjument-Bromage H, Cvejic S, Iaboni A, Kvint I, Rosensaft J, Banne E, Anagnostou E, Neubert TA, Scherer SW, Molholm S, Jordan BA.

Nat Commun. 2019 Aug 6;10(1):3529. doi: 10.1038/s41467-019-11437-w.

11.

Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol).

Bielinski SJ, St Sauver JL, Olson JE, Larson NB, Black JL, Scherer SE, Bernard ME, Boerwinkle E, Borah BJ, Caraballo PJ, Curry TB, Doddapaneni H, Formea CM, Freimuth RR, Gibbs RA, Giri J, Hathcock MA, Hu J, Jacobson DJ, Jones LA, Kalla S, Koep TH, Korchina V, Kovar CL, Lee S, Liu H, Matey ET, McGree ME, McAllister TM, Moyer AM, Muzny DM, Nicholson WT, Oyen LJ, Qin X, Raj R, Roger VL, Rohrer Vitek CR, Ross JL, Sharp RR, Takahashi PY, Venner E, Walker K, Wang L, Wang Q, Wright JA, Wu TJ, Wang L, Weinshilboum RM.

Int J Epidemiol. 2019 Aug 4. pii: dyz123. doi: 10.1093/ije/dyz123. [Epub ahead of print] No abstract available.

PMID:
31378813
12.

Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population.

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

Data Brief. 2019 Jul 2;25:104203. doi: 10.1016/j.dib.2019.104203. eCollection 2019 Aug.

13.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R.

Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198.

PMID:
31327001
14.

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.

Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R.

Clin Epigenetics. 2019 Jul 16;11(1):103. doi: 10.1186/s13148-019-0684-3.

15.

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JRI, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Medland SE, Ripke S, Yao S, Giusti-Rodríguez P; Anorexia Nervosa Genetics Initiative, Hanscombe KB, Purves KL; Eating Disorders Working Group of the Psychiatric Genomics Consortium, Adan RAH, Alfredsson L, Ando T, Andreassen OA, Baker JH, Berrettini WH, Boehm I, Boni C, Perica VB, Buehren K, Burghardt R, Cassina M, Cichon S, Clementi M, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, Davis OSP, de Zwaan M, Dedoussis G, Degortes D, DeSocio JE, Dick DM, Dikeos D, Dina C, Dmitrzak-Weglarz M, Docampo E, Duncan LE, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fichter MM, Fischer K, Föcker M, Foretova L, Forstner AJ, Forzan M, Franklin CS, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Mayora MG, Guillaume S, Guo Y, Hakonarson H, Hatzikotoulas K, Hauser J, Hebebrand J, Helder SG, Herms S, Herpertz-Dahlmann B, Herzog W, Huckins LM, Hudson JI, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Julià A, Kalsi G, Kaminská D, Kaprio J, Karhunen L, Karwautz A, Kas MJH, Kennedy JL, Keski-Rahkonen A, Kiezebrink K, Kim YR, Klareskog L, Klump KL, Knudsen GPS, La Via MC, Le Hellard S, Levitan RD, Li D, Lilenfeld L, Lin BD, Lissowska J, Luykx J, Magistretti PJ, Maj M, Mannik K, Marsal S, Marshall CR, Mattingsdal M, McDevitt S, McGuffin P, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Monteleone AM, Monteleone P, Munn-Chernoff MA, Nacmias B, Navratilova M, Ntalla I, O'Toole JK, Ophoff RA, Padyukov L, Palotie A, Pantel J, Papezova H, Pinto D, Rabionet R, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ritschel F, Roberts M, Rotondo A, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer SW, Schmidt U, Schork NJ, Schosser A, Seitz J, Slachtova L, Slagboom PE, Slof-Op 't Landt MCT, Slopien A, Sorbi S, Świątkowska B, Szatkiewicz JP, Tachmazidou I, Tenconi E, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, Tziouvas K, van Elburg AA, van Furth EF, Wagner G, Walton E, Widen E, Zeggini E, Zerwas S, Zipfel S, Bergen AW, Boden JM, Brandt H, Crawford S, Halmi KA, Horwood LJ, Johnson C, Kaplan AS, Kaye WH, Mitchell JE, Olsen CM, Pearson JF, Pedersen NL, Strober M, Werge T, Whiteman DC, Woodside DB, Stuber GD, Gordon S, Grove J, Henders AK, Juréus A, Kirk KM, Larsen JT, Parker R, Petersen L, Jordan J, Kennedy M, Montgomery GW, Wade TD, Birgegård A, Lichtenstein P, Norring C, Landén M, Martin NG, Mortensen PB, Sullivan PF, Breen G, Bulik CM.

Nat Genet. 2019 Aug;51(8):1207-1214. doi: 10.1038/s41588-019-0439-2. Epub 2019 Jul 15.

PMID:
31308545
16.

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.

17.

Are osteoporotic vertebral fractures or forward head posture associated with performance-based measures of balance and mobility?

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

Arch Osteoporos. 2019 Jun 26;14(1):67. doi: 10.1007/s11657-019-0626-x.

PMID:
31243557
18.

Pharmacogenomics of nicotine metabolism: novel CYP2A6 and CYP2B6 genetic variation patterns in Alaska Native and American Indian populations.

Claw KG, Beans JA, Lee SB, Avey JP, Stapleton PA, Scherer SE, El-Boraie A, Tyndale RF, Nickerson DA, Dillard DA, Thummel KE, Robinson RF.

Nicotine Tob Res. 2019 Jun 25. pii: ntz105. doi: 10.1093/ntr/ntz105. [Epub ahead of print]

PMID:
31241144
19.

Resistance of thermophilic spore formers isolated from milk and whey products towards cleaning-in-place conditions: Influence of pH, temperature and milk residues.

Wedel C, Wenning M, Dettling A, Scherer S, Hinrichs J.

Food Microbiol. 2019 Oct;83:150-158. doi: 10.1016/j.fm.2019.05.002. Epub 2019 May 10.

PMID:
31202406
20.

Validity of the Multidimensional Task Ability Profile.

Verna JL, Matheson LN, Scherer S, Mayer JM.

J Occup Rehabil. 2019 Jun 14. doi: 10.1007/s10926-019-09842-5. [Epub ahead of print]

PMID:
31201594
21.

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.

22.

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
23.

Polyamines and eIF5A Hypusination Modulate Mitochondrial Respiration and Macrophage Activation.

Puleston DJ, Buck MD, Klein Geltink RI, Kyle RL, Caputa G, O'Sullivan D, Cameron AM, Castoldi A, Musa Y, Kabat AM, Zhang Y, Flachsmann LJ, Field CS, Patterson AE, Scherer S, Alfei F, Baixauli F, Austin SK, Kelly B, Matsushita M, Curtis JD, Grzes KM, Villa M, Corrado M, Sanin DE, Qiu J, Pällman N, Paz K, Maccari ME, Blazar BR, Mittler G, Buescher JM, Zehn D, Rospert S, Pearce EJ, Balabanov S, Pearce EL.

Cell Metab. 2019 Aug 6;30(2):352-363.e8. doi: 10.1016/j.cmet.2019.05.003. Epub 2019 May 23.

24.

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM.

Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.

25.

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
26.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
27.

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.

28.

Return to work after breast cancer: The role of treatment-related side effects and potential impact on quality of life.

Schmidt ME, Scherer S, Wiskemann J, Steindorf K.

Eur J Cancer Care (Engl). 2019 Jul;28(4):e13051. doi: 10.1111/ecc.13051. Epub 2019 Apr 29.

PMID:
31033073
29.

Cryo-EM structures of the pore-forming A subunit from the Yersinia entomophaga ABC toxin.

Piper SJ, Brillault L, Rothnagel R, Croll TI, Box JK, Chassagnon I, Scherer S, Goldie KN, Jones SA, Schepers F, Hartley-Tassell L, Ve T, Busby JN, Dalziel JE, Lott JS, Hankamer B, Stahlberg H, Hurst MRH, Landsberg MJ.

Nat Commun. 2019 Apr 26;10(1):1952. doi: 10.1038/s41467-019-09890-8.

31.

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.

32.

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
33.

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium.

J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.

34.

Maintenance of Professional Boundaries and Family Involvement in Residential Aged Care.

Omori M, Baker C, Jayasuriya J, Savvas S, Gardner A, Dow B, Scherer S.

Qual Health Res. 2019 Sep;29(11):1611-1622. doi: 10.1177/1049732319839363. Epub 2019 Mar 31.

PMID:
30931823
35.

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.

36.

Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma.

Hoffman M, Gillmor AH, Kunz DJ, Johnston MJ, Nikolic A, Narta K, Zarrei M, King J, Ellestad K, Dang NH, Cavalli FMG, Kushida MM, Coutinho FJ, Zhu Y, Luu B, Ma Y, Mungall AJ, Moore R, Marra MA, Taylor MD, Pugh TJ, Dirks PB, Strother D, Lafay-Cousin L, Resnick AC, Scherer S, Senger DL, Simons BD, Chan JA, Morrissy AS, Gallo M.

Cancer Res. 2019 May 1;79(9):2111-2123. doi: 10.1158/0008-5472.CAN-18-3441. Epub 2019 Mar 15.

PMID:
30877103
37.

Health and Volunteering in Europe: A Longitudinal Study.

Papa R, Cutuli G, Principi A, Scherer S.

Res Aging. 2019 Aug;41(7):670-696. doi: 10.1177/0164027519834939. Epub 2019 Mar 7.

PMID:
30845894
38.

POLG mutations presenting as Charcot-Marie-Tooth disease.

Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Züchner S, Scherer SS.

J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10.

PMID:
30843307
39.

Proposal of Lysobacter pythonis sp. nov. isolated from royal pythons (Python regius).

Busse HJ, Huptas C, Baumgardt S, Loncaric I, Spergser J, Scherer S, Wenning M, Kämpfer P.

Syst Appl Microbiol. 2019 May;42(3):326-333. doi: 10.1016/j.syapm.2019.02.002. Epub 2019 Feb 15.

PMID:
30826139
40.

Exploring the association between number, severity, location of fracture, and occiput-to-wall distance.

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

Arch Osteoporos. 2019 Feb 28;14(1):27. doi: 10.1007/s11657-019-0582-5.

PMID:
30820733
41.

Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis.

Majewski T, Yao H, Bondaruk J, Chung W, Lee S, Lee JG, Zhang S, Cogdell D, Yang G, Choi W, Dinney C, Grossman HB, Logothetis C, Scherer SE, Guo CC, Zhang L, Wei P, Weinstein JN, Issa JP, Baggerly K, McConkey DJ, Czerniak B.

Cell Rep. 2019 Feb 19;26(8):2241-2256.e4. doi: 10.1016/j.celrep.2019.01.095.

42.

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 Aug 1;176(8):643-650. doi: 10.1176/appi.ajp.2018.18080993. Epub 2019 Feb 15.

PMID:
30764650
43.

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.

44.

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.

45.

Pharmacogenomic Next-Generation DNA Sequencing: Lessons from the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19.

Devarajan S, Moon I, Ho MF, Larson NB, Neavin DR, Moyer AM, Black JL, Bielinski SJ, Scherer SE, Wang L, Weinshilboum RM, Reid JM.

Drug Metab Dispos. 2019 Apr;47(4):425-435. doi: 10.1124/dmd.118.084269. Epub 2019 Feb 11.

PMID:
30745309
46.

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.

47.

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.

48.

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