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Items: 1 to 20 of 292

1.

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S.

Genet Med. 2018 Jun 12. doi: 10.1038/s41436-018-0033-5. [Epub ahead of print]

PMID:
29895855
2.

Low-abundant bacteria drive compositional changes in the gut microbiota after dietary alteration.

Benjamino J, Lincoln S, Srivastava R, Graf J.

Microbiome. 2018 May 10;6(1):86. doi: 10.1186/s40168-018-0469-5.

3.

Potentially traumatic events in youth with and at clinical high risk for psychosis.

Morelli N, Fogler J, Tembulkar S, Graber K, Lincoln SH, Bosquet Enlow M, Gonzalez-Heydrich J, D'Angelo EJ.

Early Interv Psychiatry. 2018 Mar 25. doi: 10.1111/eip.12565. [Epub ahead of print]

PMID:
29575640
4.

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

Palmer CGS, McConkie-Rosell A, Holm IA, LeBlanc K, Sinsheimer JS, Briere LC, Dorrani N, Herzog MR, Lincoln S, Schoch K, Spillmann RC, Brokamp E; Undiagnosed Diseases Network.

J Genet Couns. 2018 Mar 1. doi: 10.1007/s10897-018-0228-6. [Epub ahead of print]

PMID:
29497923
5.

Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.

Dudley B, Karloski E, Monzon FA, Singhi AD, Lincoln SE, Bahary N, Brand RE.

Cancer. 2018 Apr 15;124(8):1691-1700. doi: 10.1002/cncr.31242. Epub 2018 Jan 23.

PMID:
29360161
6.

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.

Jun G, Manning A, Almeida M, Zawistowski M, Wood AR, Teslovich TM, Fuchsberger C, Feng S, Cingolani P, Gaulton KJ, Dyer T, Blackwell TW, Chen H, Chines PS, Choi S, Churchhouse C, Fontanillas P, King R, Lee S, Lincoln SE, Trubetskoy V, DePristo M, Fingerlin T, Grossman R, Grundstad J, Heath A, Kim J, Kim YJ, Laramie J, Lee J, Li H, Liu X, Livne O, Locke AE, Maller J, Mazur A, Morris AP, Pollin TI, Ragona D, Reich D, Rivas MA, Scott LJ, Sim X, Tearle RG, Teo YY, Williams AL, Zöllner S, Curran JE, Peralta J, Akolkar B, Bell GI, Burtt NP, Cox NJ, Florez JC, Hanis CL, McKeon C, Mohlke KL, Seielstad M, Wilson JG, Atzmon G, Below JE, Dupuis J, Nicolae DL, Lehman D, Park T, Won S, Sladek R, Altshuler D, McCarthy MI, Duggirala R, Boehnke M, Frayling TM, Abecasis GR, Blangero J.

Proc Natl Acad Sci U S A. 2018 Jan 9;115(2):379-384. doi: 10.1073/pnas.1705859115. Epub 2017 Dec 26.

PMID:
29279374
7.

Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S.

Genet Med. 2018 Feb;20(2):282. doi: 10.1038/gim.2017.198. Epub 2017 Dec 7.

PMID:
29215652
8.

Neural simulation mechanisms and social-emotional function in schizophrenia.

Mukerji CE, Lincoln SH, Tully LM, Dodell-Feder D, Hooker CI.

Psychiatry Res Neuroimaging. 2018 Jan 30;271:34-42. doi: 10.1016/j.pscychresns.2017.10.006. Epub 2017 Oct 24.

PMID:
29174437
9.

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.

Roy S, Coldren C, Karunamurthy A, Kip NS, Klee EW, Lincoln SE, Leon A, Pullambhatla M, Temple-Smolkin RL, Voelkerding KV, Wang C, Carter AB.

J Mol Diagn. 2018 Jan;20(1):4-27. doi: 10.1016/j.jmoldx.2017.11.003. Epub 2017 Nov 21. Review.

PMID:
29154853
10.

Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases.

Allen M, Wang X, Burgess JD, Watzlawik J, Serie DJ, Younkin CS, Nguyen T, Malphrus KG, Lincoln S, Carrasquillo MM, Ho C, Chakrabarty P, Strickland S, Murray ME, Swarup V, Geschwind DH, Seyfried NT, Dammer EB, Lah JJ, Levey AI, Golde TE, Funk C, Li H, Price ND, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Crook JR, Asmann YW, Ertekin-Taner N.

Alzheimers Dement. 2018 Mar;14(3):352-366. doi: 10.1016/j.jalz.2017.09.012. Epub 2017 Oct 31.

11.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

12.

β-Cyclodextrin- and adamantyl-substituted poly(acrylate) self-assembling aqueous networks designed for controlled complexation and release of small molecules.

Yan L, Pham DT, Clements P, Lincoln SF, Wang J, Guo X, Easton CJ.

Beilstein J Org Chem. 2017 Sep 7;13:1879-1892. doi: 10.3762/bjoc.13.183. eCollection 2017.

13.

Solvent Effects on the Intramolecular Charge Transfer Character of N,N-Diaryl Dihydrophenazine Catalysts for Organocatalyzed Atom Transfer Radical Polymerization.

Ryan MD, Theriot JC, Lim CH, Yang H, Lockwood A, Garrison NG, Lincoln SR, Musgrave CB, Miyake GM.

J Polym Sci A Polym Chem. 2017 Sep 15;55(18):3017-3027. doi: 10.1002/pola.28574. Epub 2017 Mar 16.

PMID:
28966439
14.

FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT.

Pediatrics. 2017 Jun;139(Suppl 3):S183-S193. doi: 10.1542/peds.2016-1159E.

15.

Suicidal behaviors and their relationship with psychotic-like symptoms in children and adolescents at clinical high risk for psychosis.

D'Angelo EJ, Lincoln SH, Morelli N, Graber K, Tembulkar S, Gonzalez-Heydrich J.

Compr Psychiatry. 2017 Oct;78:31-37. doi: 10.1016/j.comppsych.2017.07.008. Epub 2017 Jul 20.

PMID:
28803039
16.

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.

Lincoln SE, Yang S, Cline MS, Kobayashi Y, Zhang C, Topper S, Haussler D, Paten B, Nussbaum RL.

JCO Precis Oncol. 2017 Jul;1. doi: 10.1200/PO.16.00020. Epub 2017 Apr 11.

17.

Outcome of Expedited Rotator Cuff Surgery in Injured Workers: Determinants of Successful Recovery.

Razmjou H, Boljanovic D, Lincoln S, Holtby R, Gallay S, Henry P, Macritchie I; WCP Consortium, Borthwick C, Mayer L, Roknic C, Shore D, Kamino A, Grossman J, Hill J, Singh G, Travers N, Yanofsky L, Wilson M, Sumar S, Savona A, De Medeiros F, Mann H, Champsi A, Chau S, Medeiros D, Richards RR.

Orthop J Sports Med. 2017 May 22;5(5):2325967117705319. doi: 10.1177/2325967117705319. eCollection 2017 May.

18.

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S.

Genet Med. 2017 Oct;19(10):1118-1126. doi: 10.1038/gim.2017.60. Epub 2017 Jun 1. Erratum in: Genet Med. 2017 Dec 07;:.

19.

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.

Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C; Members of the Undiagnosed Diseases Network, Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D.

J Neurogenet. 2017 Mar - Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2.

PMID:
28460589
20.

Social cognitive impairment in 22q11 deletion syndrome: A review.

Norkett EM, Lincoln SH, Gonzalez-Heydrich J, D'Angelo EJ.

Psychiatry Res. 2017 Jul;253:99-106. doi: 10.1016/j.psychres.2017.01.103. Epub 2017 Feb 23. Review.

PMID:
28364592

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