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Items: 1 to 20 of 167


ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.

Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.


The progression of the ClinGen gene clinical validity classification over time.

McGlaughon JL, Goldstein JL, Thaxton C, Hemphill SE, Berg JS.

Hum Mutat. 2018 Nov;39(11):1494-1504. doi: 10.1002/humu.23604.


Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2018 Oct 5. doi: 10.1038/s41436-018-0308-x. [Epub ahead of print]


Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

Haskell GT, Mori M, Powell C, Amrhein TJ, Rice GI, Bailey L, Strande N, Weck KE, Evans JP, Berg JS, Kishnani P.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a002758. doi: 10.1101/mcs.a002758. Print 2018 Oct.


Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening.

Meagher KM, Berg JS.

Per Med. 2018 Sep;15(5):343-346. doi: 10.2217/pme-2018-0041. Epub 2018 Sep 27. No abstract available.


Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.

Roche MI, Griesemer I, Khan CM, Moore E, Lin FC, O'Daniel JM, Foreman AKM, Lee K, Powell BC, Berg JS, Evans JP, Henderson GE, Rini C.

Genet Med. 2018 Sep 21. doi: 10.1038/s41436-018-0294-z. [Epub ahead of print]


The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium, Plon SE, Jarvik GP.

Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007.


Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.

Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS.

Genet Med. 2018 Sep 5. doi: 10.1038/s41436-018-0267-2. [Epub ahead of print]


Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS; members of the CSER Actionability and Return of Results Working Group.

Mol Genet Genomic Med. 2018 Aug 21. doi: 10.1002/mgg3.453. [Epub ahead of print]


hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.

Mackie DI, Al Mutairi F, Davis RB, Kechele DO, Nielsen NR, Snyder JC, Caron MG, Kliman HJ, Berg JS, Simms J, Poyner DR, Caron KM.

J Exp Med. 2018 Sep 3;215(9):2339-2353. doi: 10.1084/jem.20180528. Epub 2018 Aug 16.


Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.

Brnich SE, Rivera-Muñoz EA, Berg JS.

Hum Mutat. 2018 Nov;39(11):1531-1541. doi: 10.1002/humu.23609. Epub 2018 Sep 5.


Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity.

Moore EG, Roche M, Rini C, Corty EW, Girnary Z, O'Daniel JM, Lin FC, Corbie-Smith G, Evans JP, Henderson GE, Berg JS.

Public Health Genomics. 2017;20(6):332-342. doi: 10.1159/000490519. Epub 2018 Aug 7.


Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Strande NT, Brnich SE, Roman TS, Berg JS.

Genet Med. 2018 Jul 10. doi: 10.1038/s41436-018-0100-y. [Epub ahead of print] Review.


Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL).

Maniam P, Zhou K, Lonergan M, Berg JN, Goudie DR, Newey PJ.

J Endocr Soc. 2018 Jun 18;2(7):806-816. doi: 10.1210/js.2018-00120. eCollection 2018 Jul 1.


Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.

Milko LV, Rini C, Lewis MA, Butterfield RM, Lin FC, Paquin RS, Powell BC, Roche MI, Souris KJ, Bailey DB Jr, Berg JS, Powell CM.

Trials. 2018 Jun 28;19(1):344. doi: 10.1186/s13063-018-2686-4.


Identification of clonal hematopoiesis mutations in solid tumor patients undergoing unpaired next-generation sequencing assays.

Coombs CC, Gillis NK, Tan X, Berg JS, Ball MC, Balasis ME, Montgomery ND, Bolton K, Parker JS, Mesa TE, Yoder SJ, Hayward MC, Patel NM, Richards KL, Walko CM, Knepper TC, Soper JT, Weiss J, Grilley-Olson JE, Kim WY, Earp S, Levine R, Papaemmanuil E, Zehir A, Hayes DN, Padron E.

Clin Cancer Res. 2018 Jun 4. pii: clincanres.1201.2018. doi: 10.1158/1078-0432.CCR-18-1201. [Epub ahead of print]


Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.

Haskell GT, Jensen BC, Skrzynia C, Pulikkotil T, Tilley CR, Lu Y, Marchuk DS, Ann Samsa L, Wilhelmsen KC, Lange E, Patterson C, Evans JP, Berg JS.

J Heart Valve Dis. 2017 Sep;26(5):569-580.


Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

Farrell M, Lichtenstein M, Crowley JJ, Filmyer DM, Lázaro-Muñoz G, Shaughnessy RA, Mackenzie IR, Hirsch-Reinshagen V, Stowe R, Evans JP, Berg JS, Szatkiewicz J, Josiassen RC, Sullivan PF.

Am J Psychiatry. 2018 May 1;175(5):400-407. doi: 10.1176/appi.ajp.2017.17060638. No abstract available.


"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.

Skinner D, Roche MI, Weck KE, Raspberry KA, Foreman AKM, Strande NT, Berg JS, Evans JP, Henderson GE.

Genet Med. 2018 Mar;20(3):313-319. doi: 10.1038/gim.2017.135. Epub 2017 Oct 2.


Analytical evidence to show letters impregnated with novel psychoactive substances are a means of getting drugs to inmates within the UK prison service.

Ford LT, Berg JD.

Ann Clin Biochem. 2018 Jan 1:4563218767462. doi: 10.1177/0004563218767462. [Epub ahead of print]


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