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Items: 1 to 20 of 327

1.

Correction: 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, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA.

Genet Med. 2019 Jan 22. doi: 10.1038/s41436-019-0440-2. [Epub ahead of print]

PMID:
30670880
2.

Proteus Syndrome.

Biesecker LG, Sapp JC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Aug 9 [updated 2019 Jan 10].

3.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR.

Genome Med. 2018 Dec 24;10(1):99. doi: 10.1186/s13073-018-0607-5.

4.

Ethnic identity and engagement with genome sequencing research.

Turbitt E, Roberts MC, Hollister BM, Lewis KL, Biesecker LG, Klein WMP.

Genet Med. 2018 Dec 20. doi: 10.1038/s41436-018-0410-0. [Epub ahead of print]

PMID:
30568309
5.

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Gonsalves SG, Dirksen RT, Sangkuhl K, Pulk R, Alvarellos M, Vo T, Hikino K, Roden D, Klein TE, Poler SM, Patel S, Caudle KE, Gordon R, Brandom B, Biesecker LG.

Clin Pharmacol Ther. 2018 Nov 30. doi: 10.1002/cpt.1319. [Epub ahead of print] Review.

PMID:
30499100
6.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C.

Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15.

PMID:
30449416
7.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. No abstract available.

8.

Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort.

Lewis KL, Heidlebaugh AR, Epps S, Han PKJ, Fishler KP, Klein WMP, Miller IM, Ng D, Hepler C, Biesecker BB, Biesecker LG.

Genet Med. 2018 Nov 1. doi: 10.1038/s41436-018-0341-9. [Epub ahead of print]

PMID:
30382154
9.

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.

Takyar V, Khattar D, Ling A, Patel R, Sapp JC, Kim SA, Auh S, Biesecker LG, Keppler-Noreuil KM, Heller T.

Am J Med Genet A. 2018 Dec;176(12):2677-2684. doi: 10.1002/ajmg.a.40636. Epub 2018 Oct 22.

PMID:
30346092
10.

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.

Biesecker LG, Nussbaum RL, Rehm HL.

JAMA. 2018 Nov 13;320(18):1929-1930. doi: 10.1001/jama.2018.14900. No abstract available.

PMID:
30326012
11.

Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group.

Hum Mutat. 2018 Nov;39(11):1525-1530. doi: 10.1002/humu.23642.

PMID:
30311383
12.

Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.

Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB; ClinGen Resource.

Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631.

PMID:
30311382
13.

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] Erratum in: Genet Med. 2019 Jan 22;:.

PMID:
30287922
14.

Response to Esplin et al.

Biesecker LG.

Genet Med. 2018 Oct 4. doi: 10.1038/s41436-018-0303-2. [Epub ahead of print] No abstract available.

PMID:
30283096
15.

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.

Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group, Vabres P, Semple RK, Biesecker LG.

Genet Med. 2018 Oct 1. doi: 10.1038/s41436-018-0297-9. [Epub ahead of print]

PMID:
30270358
16.

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.

17.

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.

Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI).

Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7.

PMID:
30192042
18.

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 Nov;6(6):898-909. doi: 10.1002/mgg3.453. Epub 2018 Aug 21.

19.

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program, Manolio TA, Biesecker BB, Biesecker LG.

Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16.

PMID:
30122538
20.

Response to Mendelsohn and Sabbadini.

Biesecker LG.

Genet Med. 2018 Jul 19. doi: 10.1038/s41436-018-0134-1. [Epub ahead of print] No abstract available.

PMID:
30022155

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