Skip to main content
Publications
2017
Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KA.
Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
Genet Med. 2017 Jan 12. doi: 10.1038/gim.2016.198. [Epub ahead of print]. PMID: 28079899.
Patel RY, Shah N, Jackson AR, Ghosh R, Pawliczek P, Paithankar S, Baker A, Riehle K, Chen H, Milosavljevic S, Bizon C, Rynearson S, Nelson T, Jarvik GP, Rehm HL, Harrison SM, Azzariti D, Powell B, Babb L, Plon SE, Milosavljevic A; ClinGen Resource..
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Genome Med. 2017 Jan 12;9(1):3. doi: 10.1186/s13073-016-0391-z. PMID: 28081714.
Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, Brennan CA, Cibulskis C, Walker K, Carneiro MO, Sailsbery J, Hindorff LA, Robinson DR, et al.
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Genet Med. 2017 Nov 16. doi: 10.1038/gim.2017.192. [Epub ahead of print]. PMID: 29144510.
Wolf SM, Amendola LM, Berg JS, Chung WK, Clayton EW, Green RC, Harris-Wai J, Henderson GE, Jarvik GP, Koenig BA, Lehmann LS, McGuire AL, O'Rourke P, Somkin C, Wilfond BS, Burke W.
Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.
Genet Med. 2017 Aug 31. doi: 10.1038/gim.2017.137. [Epub ahead of print]. PMID: 28858330.
2016
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, et al.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet. 2016 Jun 2;98(6):1067-76. doi: 10.1016/j.ajhg.2016.03.024. PMID: 27181684.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, et al.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet. 2016 Jul 7;99(1):247. doi: 10.1016/j.ajhg.2016.06.001. No abstract available. PMID: 27392081.
Bissig-Choisat B, Kettlun-Leyton C, Legras XD, Zorman B, Barzi M, Chen LL, Amin MD, Huang YH, Pautler RG, Hampton OA, Prakash MM, Yang D, Borowiak M, Muzny D, Doddapaneni HV, Hu J, Shi Y, Gaber MW, Hicks MJ, Thompson PA, Lu Y, Mills GB, et al.
Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer.
J Hepatol. 2016 Aug;65(2):325-33. doi: 10.1016/j.jhep.2016.04.009. PMID: 27117591.
Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, et al.
Recommendations for the integration of genomics into clinical practice.
Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Review. PMID: 27171546.
Brothers KB, East KM, Kelley WV, Wright MF, Westbrook MJ, Rich CA, Bowling KM, Lose EJ, Bebin EM, Simmons S, Myers JA, Barsh G, Myers RM, Cooper GM, Pulley JM, Rothstein MA, Clayton EW.
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.
Genet Med. 2017 Mar;19(3):337-344. doi: 10.1038/gim.2016.110. PMID: 27561086.
Garofalo A, Sholl L, Reardon B, Taylor-Weiner A, Amin-Mansour A, Miao D, Liu D, Oliver N, MacConaill L, Ducar M, Rojas-Rudilla V, Giannakis M, Ghazani A, Gray S, Janne P, Garber J, Joffe S, Lindeman N, Wagle N, Garraway LA, Van Allen EM.
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Med. 2016 Jul 26;8(1):79. doi: 10.1186/s13073-016-0333-9. PMID: 27460824.
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, et al.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.002. No abstract available. PMID: 27392080.
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, et al.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Am J Hum Genet. 2016 Jun 2;98(6):1051-66. doi: 10.1016/j.ajhg.2016.04.011. PMID: 27181682.
Green RC, Goddard KA, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Ana CF, Chinnaiyan AM, Chung WK, Clayton EW, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Hutter CM, Janne PA, Jarvik GP, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio T, McCullough L, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama J, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH, for the CSER Consortium..
The Clinical Sequencing Exploratory Research Consortium: Accelerating the Evidence-Based Practice of Genomic Medicine.
Am J Hum Genet. 2016 May 12. pii: S0002-9297(16)30106-9. doi: 10.1016/j.ajhg.2016.04.011. PMID: 27181682.
Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, et al.
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Genet Med. 2016 Dec;18(12):1258-1268. doi: 10.1038/gim.2016.40. PMID: 27124788.
Jarvik GP, Evans JP.
Mastering genomic terminology.
Genet Med. 2016 Sep 22. doi: 10.1038/gim.2016.139. [Epub ahead of print] No abstract available. PMID: 27657676.
Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Richards CS, McMullen C, Nickerson D, Dorschner MO, Goddard KA.
Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.
Contemp Clin Trials. 2017 Feb;53:100-105. doi: 10.1016/j.cct.2016.12.007. PMID: 27940182.
Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW.
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.
Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001057. doi: 10.1101/mcs.a001057. PMID: 27626068.
Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, Ho N, Zhao M, Liu Y, O'Connell MP, Trivedi NN, Nelson C, DiMaggio T, Jones N, Matthews H, Lewis KL, Oler AJ, Carlson RJ, Arkwright PD, Hong C, Agama S, Wilson TM, et al.
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. PMID: 27749843.
Mehra R, Vats P, Cieslik M, Cao X, Su F, Shukla S, Udager AM, Wang R, Pan J, Kasaian K, Lonigro R, Siddiqui J, Premkumar K, Palapattu G, Weizer A, Hafez KS, Wolf JS Jr, Sangoi AR, Trpkov K, Osunkoya AO, Zhou M, Giannico G, et al.
Biallelic Alteration and Dysregulation of the Hippo Pathway in Mucinous Tubular and Spindle Cell Carcinoma of the Kidney.
Cancer Discov. 2016 Nov;6(11):1258-1266. PMID: 27604489.
Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, Hiatt SM, Prokop JW, Bowling KM, Mei D, Conti V, de la Grange P, Ferrand-Sorbets S, Dorfmüller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper GM, Baulac S.
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Neurol Genet. 2016 Oct 31;2(6):e118. PMID: 27830187.
O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, et al.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med. 2016 Nov 3. doi: 10.1038/gim.2016.152. [Epub ahead of print]. PMID: 27811861.
Potter SL, Venkatramani R, Wenderfer S, Graham BH, Vasudevan SA, Sher A, Wu H, Wheeler DA, Yang Y, Eng CM, Gibbs RA, Roy A, Plon SE, Parsons DW.
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia.
Pediatr Blood Cancer. 2016 Oct 17. doi: 10.1002/pbc.26286. [Epub ahead of print]. PMID: 27748010.
Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J.
Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.
Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060. PMID: 27652374.
Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group..
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Genome Med. 2016 Nov 4;8(1):117. PMID: 27814769.
Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS 3rd, Sharpless NE, Hayes DN, Berg JS.
Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.
Clin Cancer Res. 2016 Aug 15;22(16):4087-94. doi: 10.1158/1078-0432.CCR-16-0015. PMID: 27083775.
Tan N, Amendola LM, O'Daniel JM, Burt A, Horike-Pyne MJ, Boshe L, Henderson GE, Rini C, Roche MI, Hisama FM, Burke W, Wilfond B, Jarvik GP.
Is "incidental finding" the best term?: a study of patients' preferences.
Genet Med. 2017 Feb;19(2):176-181. doi: 10.1038/gim.2016.96. PMID: 27490114.
2015
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. PMID: 25637381.
Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13. PMID: 26270767.
Berg JS, Foreman AKM, O'Daniel JM, Booker JK, Boshe L, Carye T, Crooks KR, Jensen JC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
PMID: 26270767. PMCID: 4752935.
Berkman BE, Hull SC, Biesecker LG.
Scrutinizing the Right Not to Know.
Am J Bioeth. 2015;15(7):17-9. doi: 10.1080/15265161.2015.1039733. No abstract available. PMID: 26147256.
Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD.
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.
Am J Hum Genet. 2015 Jul 2;97(1):6-21. doi: 10.1016/j.ajhg.2015.05.022. Review. Erratum in: Am J Hum Genet. 2015 Sep 3;97(3):501. PMID: 26140447.
Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Murray MF, Green RC, McGuire AL; MedSeq Project Team..
Are physicians prepared for whole genome sequencing? a qualitative analysis.
Clin Genet. 2016 Feb;89(2):228-34. doi: 10.1111/cge.12626. PMID: 26080898.
Cieslik M, Chugh R, Wu YM, Wu M, Brennan C, Lonigro R, Su F, Wang R, Siddiqui J, Mehra R, Cao X, Lucas D, Chinnaiyan AM, Robinson D.
The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing.
Genome Res. 2015 Sep;25(9):1372-81. doi: 10.1101/gr.189621.115. PMID: 26253700.
Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM.
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29. PMID: 25920937.
Dauriz M, Porneala BC, Guo X, Bielak LF, Peyser PA, Durant NH, Carnethon MR, Bonadonna RC, Bonora E, Bowden DW, Florez JC, Fornage M, Hivert MF, Jacobs DR Jr, Kabagambe EK, Lewis CE, Murabito JM, Rasmussen-Torvik LJ, Rich SS, Vassy JL, Yao J, Carr JJ, et al.
Association of a 62 Variants Type 2 Diabetes Genetic Risk Score With Markers of Subclinical Atherosclerosis: A Transethnic, Multicenter Study.
Circ Cardiovasc Genet. 2015 Jun;8(3):507-15. doi: 10.1161/CIRCGENETICS.114.000740. PMID: 25805414.
Gallego CJ, Shirts BH, Bennette CS, Guzauskas G, Amendola LM, Horike-Pyne M, Hisama FM, Pritchard CC, Grady WM, Burke W, Jarvik GP, Veenstra DL.
Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis.
J Clin Oncol. 2015 Jun 20;33(18):2084-91. doi: 10.1200/JCO.2014.59.3665. PMID: 25940718.
Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, et al.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. No abstract available. PMID: 26154004.
Harms PW, Vats P, Verhaegen ME, Robinson DR, Wu YM, Dhanasekaran SM, Palanisamy N, Siddiqui J, Cao X, Su F, Wang R, Xiao H, Kunju LP, Mehra R, Tomlins SA, Fullen DR, Bichakjian CK, Johnson TM, Dlugosz AA, Chinnaiyan AM.
The Distinctive Mutational Spectra of Polyomavirus-Negative Merkel Cell Carcinoma.
Cancer Res. 2015 Sep 15;75(18):3720-7. doi: 10.1158/0008-5472.CAN-15-0702. PMID: 26238782.
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013. PMID: 26046366.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG.
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. PMID: 25557259.
Lee K, Berg JS, Milko L, Crooks K, Lu M, Bizon C, Owen P, Wilhelmsen KC, Weck KE, Evans JP, Garg S.
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
Am J Ophthalmol. 2015 Aug;160(2):354-363.e9. doi: 10.1016/j.ajo.2015.04.026. PMID: 25910913.
Li MH, Abrudan JL, Dulik MC, Sasson A, Brunton J, Jayaraman V, Dugan N, Haley D, Rajagopalan R, Biswas S, Sarmady M, DeChene ET, Deardorff MA, Wilkens A, Noon SE, Scarano MI, Santani AB, White PS, Pennington J, Conlin LK, Spinner NB, Krantz ID, et al.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Hum Genomics. 2015 Jul 19;9:15. doi: 10.1186/s40246-015-0038-y. PMID: 26187847.
McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project..
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
BMC Med Genet. 2014 Dec 14;15:134. doi: 10.1186/s12881-014-0134-1. PMID: 25714468.
Mody RJ, Wu YM, Lonigro RJ, Cao X, Roychowdhury S, Vats P, Frank KM, Prensner JR, Asangani I, Palanisamy N, Dillman JR, Rabah RM, Kunju LP, Everett J, Raymond VM, Ning Y, Su F, Wang R, Stoffel EM, Innis JW, Roberts JS, Robertson PL, et al.
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
JAMA. 2015 Sep 1;314(9):913-25. doi: 10.1001/jama.2015.10080. PMID: 26325560.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen..
ClinGen--the Clinical Genome Resource.
N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. No abstract available. PMID: 26014595.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. PMID: 25741868.
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, et al.
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. Erratum in: JAMA Neurol. 2015 May;72(5):608. PMID: 25751282.
Robinson D, Van Allen EM, Wu YM, Schultz N, Lonigro RJ, Mosquera JM, Montgomery B, Taplin ME, Pritchard CC, Attard G, Beltran H, Abida W, Bradley RK, Vinson J, Cao X, Vats P, Kunju LP, Hussain M, Feng FY, Tomlins SA, Cooney KA, Smith DC, et al.
Integrative clinical genomics of advanced prostate cancer.
Cell. 2015 May 21;161(5):1215-28. doi: 10.1016/j.cell.2015.05.001. Erratum in: Cell. 2015 Jul 16;162(2):454. PMID: 26000489.
Schneider JL, Goddard KA, Davis J, Wilfond B, Kauffman TL, Reiss JA, Gilmore M, Himes P, Lynch FL, Leo MC, McMullen C.
Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.
J Genet Couns. 2016 Feb;25(1):135-45. doi: 10.1007/s10897-015-9851-7. PMID: 26093606.
Schneider JL, Davis J, Kauffman TL, Reiss JA, McGinley C, Arnold K, Zepp J, Gilmore M, Muessig KR, Syngal S, Acheson L, Wiesner GL, Peterson SK, Goddard KA.
Stakeholder perspectives on implementing a universal Lynch syndrome screening program: a qualitative study of early barriers and facilitators.
Genet Med. 2016 Feb;18(2):152-61. doi: 10.1038/gim.2015.43. PMID: 25880440.
Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA, Jarvik GP, Plon SE, Stoffel EM, Tarczy-Hornoch PZ, Van Allen EM, Weck KE, Chute CG, Freimuth RR, Grundmeier RW, Hartzler AL, Li R, Peissig PL, Peterson JF, Rasmussen LV, Starren JB, Williams MS, et al.
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. PMID: 26142422.
Trinidad SB, Fullerton SM, Burke W.
Looking for Trouble and Finding It.
Am J Bioeth. 2015;15(7):15-7. doi: 10.1080/15265161.2015.1039731. No abstract available. PMID: 26147255.
Vassy JL, Christensen KD, Slashinski MJ, Lautenbach DM, Raghavan S, Robinson JO, Blumenthal-Barby J, Feuerman LZ, Lehmann LS, Murray MF, Green RC, McGuire AL.
'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project.
Per Med. 2015;12(1):23-32. PMID: 25642274.
Vassy JL, McLaughlin HM, MacRae CA, Seidman CE, Lautenbach D, Krier JB, Lane WJ, Kohane IS, Murray MF, McGuire AL, Rehm HL, Green RC.
A one-page summary report of genome sequencing for the healthy adult.
Public Health Genomics. 2015;18(2):123-9. doi: 10.1159/000370102. Erratum in: Public Health Genomics. 2015 Apr;18(3):191. McLaughlin, Heather L [corrected to McLaughlin, Heather M]. PMID: 25612602.
Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD.
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Genet Med. 2016 Jan;18(1):41-8. doi: 10.1038/gim.2015.25. PMID: 25764212.
Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS.
Hepatocellular carcinoma associated with tight-junction protein 2 deficiency.
Hepatology. 2015 Dec;62(6):1914-6. doi: 10.1002/hep.27872. No abstract available. PMID: 25921221.
2014
Botkin JR, Lewis MH, Watson MS, Swoboda KJ, Anderson R, Berry SA, Bonhomme N, Brosco JP, Comeau AM, Goldenberg A, Goldman E, Therrell B, Levy-Fisch J, Tarini B, Wilfond B; Bioethics and Legal Work Group of the Newborn Screening Translational Research Network..
Parental permission for pilot newborn screening research: guidelines from the NBSTRN.
Pediatrics. 2014 Feb;133(2):e410-7. doi: 10.1542/peds.2013-2271. PMID: 24394680.
Brothers KB, Lynch JA, Aufox SA, Connolly JJ, Gelb BD, Holm IA, Sanderson SC, McCormick JB, Williams JL, Wolf WA, Antommaria AH, Clayton EW.
Practical guidance on informed consent for pediatric participants in a biorepository.
Mayo Clin Proc. 2014 Nov;89(11):1471-80. doi: 10.1016/j.mayocp.2014.07.006. No abstract available. PMID: 25264176.
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, et al.
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53. PMID: 24667040.
Carere DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC; PGen Study Group..
Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers.
Genome Med. 2014 Dec 3;6(12):96. doi: 10.1186/s13073-014-0096-0. PMID: 25484922.
Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J.
GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.
J Neurol. 2014 Mar;261(3):622-4. doi: 10.1007/s00415-014-7265-3. Epub 2014 Feb 8. No abstract available. PMID: 24509643.
Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, Burke W, Patrick DL, Jarvik GP, Veenstra DL.
Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.
Contemp Clin Trials. 2014 Sep;39(1):1-8. doi: 10.1016/j.cct.2014.06.016. PMID: 24997220.
Garralda E, Paz K, López-Casas PP, Jones S, Katz A, Kann LM, López-Rios F, Sarno F, Al-Shahrour F, Vasquez D, Bruckheimer E, Angiuoli SV, Calles A, Diaz LA, Velculescu VE, Valencia A, Sidransky D, Hidalgo M.
Integrated next-generation sequencing and avatar mouse models for personalized cancer treatment.
Clin Cancer Res. 2014 May 1;20(9):2476-84. doi: 10.1158/1078-0432.CCR-13-3047. PMID: 24634382.
Green RC, Christensen KD, Cupples LA, Relkin NR, Whitehouse PJ, Royal CD, Obisesan TO, Cook-Deegan R, Linnenbringer E, Butson MB, Fasaye GA, Levinson E, Roberts JS; REVEAL Study Group..
A randomized noninferiority trial of condensed protocols for genetic risk disclosure of Alzheimer's disease.
Alzheimers Dement. 2015 Oct;11(10):1222-30. doi: 10.1016/j.jalz.2014.10.014. PMID: 25499536.
Hwang KB, Lee IH, Park JH, Hambuch T, Choe Y, Kim M, Lee K, Song T, Neu MB, Gupta N, Kohane IS, Green RC, Kong SW.
Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods.
Hum Mutat. 2014 Aug;35(8):936-44. doi: 10.1002/humu.22587. PMID: 24829188.
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, et al.
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8. PMID: 24814192.
Lee IH, Lee K, Hsing M, Choe Y, Park JH, Kim SH, Bohn JM, Neu MB, Hwang KB, Green RC, Kohane IS, Kong SW.
Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.
Hum Mutat. 2014 May;35(5):537-47. doi: 10.1002/humu.22520. Epub 2014 Mar 6. PMID: 24478219.
Overby CL, Rasmussen LV, Hartzler A, Connolly JJ, Peterson JF, Hedberg RE, Freimuth RR, Shirts BH, Denny JC, Larson EB, Chute CG, Jarvik GP, Ralston JD, Shuldiner AR, Starren J, Kullo IJ, Tarczy-Hornoch P, Williams MS.
A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project.
AMIA Annu Symp Proc. 2014 Nov 14;2014:944-53. PMID: 25954402.
Peters TL, Kumar V, Polikepahad S, Lin FY, Sarabia SF, Liang Y, Wang WL, Lazar AJ, Doddapaneni H, Chao H, Muzny DM, Wheeler DA, Okcu MF, Plon SE, Hicks MJ, López-Terrada D, Parsons DW, Roy A.
BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.
Mod Pathol. 2015 Apr;28(4):575-86. doi: 10.1038/modpathol.2014.139. PMID: 25360585.
Scollon S, Bergstrom K, Kerstein RA, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW.
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.
Genome Med. 2014 Sep 17;6(9):69. doi: 10.1186/s13073-014-0069-3. PMID: 25317207.
Sparks JA, Iversen MD, Miller Kroouze R, Mahmoud TG, Triedman NA, Kalia SS, Atkinson ML, Lu B, Deane KD, Costenbader KH, Green RC, Karlson EW.
Personalized Risk Estimator for Rheumatoid Arthritis (PRE-RA) Family Study: rationale and design for a randomized controlled trial evaluating rheumatoid arthritis risk education to first-degree relatives.
Contemp Clin Trials. 2014 Sep;39(1):145-57. doi: 10.1016/j.cct.2014.08.007. PMID: 25151341.
Teutsch SM, Fielding JE, Khoury MJ, Evans JP.
Utility before business.
Genet Med. 2014 Dec;16(12):869-70. doi: 10.1038/gim.2014.71. Epub 2014 Jul 10. No abstract available. PMID: 25010054.
Van Allen EM, Mouw KW, Kim P, Iyer G, Wagle N, Al-Ahmadie H, Zhu C, Ostrovnaya I, Kryukov GV, O'Connor KW, Sfakianos J, Garcia-Grossman I, Kim J, Guancial EA, Bambury R, Bahl S, Gupta N, Farlow D, Qu A, Signoretti S, Barletta JA, Reuter V, et al.
Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma.
Cancer Discov. 2014 Oct;4(10):1140-53. doi: 10.1158/2159-8290.CD-14-0623. PMID: 25096233.
Van Allen EM, Wagle N, Stojanov P, Perrin DL, Cibulskis K, Marlow S, Jane-Valbuena J, Friedrich DC, Kryukov G, Carter SL, McKenna A, Sivachenko A, Rosenberg M, Kiezun A, Voet D, Lawrence M, Lichtenstein LT, Gentry JG, Huang FW, Fostel J, Farlow D, Barbie D, et al.
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Nat Med. 2014 Jun;20(6):682-8. doi: 10.1038/nm.3559. PMID: 24836576.
Vassy JL, Hivert MF, Porneala B, Dauriz M, Florez JC, Dupuis J, Siscovick DS, Fornage M, Rasmussen-Torvik LJ, Bouchard C, Meigs JB.
Polygenic type 2 diabetes prediction at the limit of common variant detection.
Diabetes. 2014 Jun;63(6):2172-82. doi: 10.2337/db13-1663. PMID: 24520119.
Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project..
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85. PMID: 24645908.
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, et al.
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. PMID: 24791903.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.
Molecular findings among patients referred for clinical whole-exome sequencing.
JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. PMID: 25326635.
2013
Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP; Members of the CSER Actionability and Return of Results Working Group..
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24. Review. Erratum in: Genet Med. 2014 Feb;16(2):203. PMID: 24195999.
Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R.
Recommendations for returning genomic incidental findings? We need to talk!.
Genet Med. 2013 Nov;15(11):854-9. doi: 10.1038/gim.2013.113. Review. PMID: 23907645.
Caulfield T, Evans J, McGuire A, McCabe C, Bubela T, Cook-Deegan R, Fishman J, Hogarth S, Miller FA, Ravitsky V, Biesecker B, Borry P, Cho MK, Carroll JC, Etchegary H, Joly Y, Kato K, Lee SS, Rothenberg K, Sankar P, Szego MJ, Ossorio P, et al.
Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate.
PLoS Biol. 2013 Nov;11(11):e1001699. doi: 10.1371/journal.pbio.1001699. PMID: 24223516.
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project., Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, et al.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. PMID: 24055113.
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics..
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20. PMID: 23788249.
Hartzler A, McCarty CA, Rasmussen LV, Williams MS, Brilliant M, Bowton EA, Clayton EW, Faucett WA, Ferryman K, Field JR, Fullerton SM, Horowitz CR, Koenig BA, McCormick JB, Ralston JD, Sanderson SC, Smith ME, Trinidad SB.
Stakeholder engagement: a key component of integrating genomic information into electronic health records.
Genet Med. 2013 Oct;15(10):792-801. doi: 10.1038/gim.2013.127. Review. PMID: 24030437.
Hazin R, Brothers KB, Malin BA, Koenig BA, Sanderson SC, Rothstein MA, Williams MS, Clayton EW, Kullo IJ.
Ethical, legal, and social implications of incorporating genomic information into electronic health records.
Genet Med. 2013 Oct;15(10):810-6. doi: 10.1038/gim.2013.117. Review. PMID: 24030434.
Johannessen CM, Johnson LA, Piccioni F, Townes A, Frederick DT, Donahue MK, Narayan R, Flaherty KT, Wargo JA, Root DE, Garraway LA.
A melanocyte lineage program confers resistance to MAP kinase pathway inhibition.
Nature. 2013 Dec 5;504(7478):138-42. doi: 10.1038/nature12688. PMID: 24185007.
Overby CL, Kohane I, Kannry JL, Williams MS, Starren J, Bottinger E, Gottesman O, Denny JC, Weng C, Tarczy-Hornoch P, Hripcsak G.
Opportunities for genomic clinical decision support interventions.
Genet Med. 2013 Oct;15(10):817-23. doi: 10.1038/gim.2013.128. No abstract available. PMID: 24051479.
Peterson D, Munger C, Crowley J, Corcoran C, Cruchaga C, Goate AM, Norton MC, Green RC, Munger RG, Breitner JC, Welsh-Bohmer KA, Lyketsos C, Tschanz J, Kauwe JS; Alzheimer's Disease Neuroimaging Initiative..
Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study.
Alzheimers Dement. 2014 May;10(3):366-71. doi: 10.1016/j.jalz.2013.02.010. PMID: 23727081.
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee..
ACMG clinical laboratory standards for next-generation sequencing.
Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. PMID: 23887774.
Robinson DR, Wu YM, Vats P, Su F, Lonigro RJ, Cao X, Kalyana-Sundaram S, Wang R, Ning Y, Hodges L, Gursky A, Siddiqui J, Tomlins SA, Roychowdhury S, Pienta KJ, Kim SY, Roberts JS, Rae JM, Van Poznak CH, Hayes DF, Chugh R, Kunju LP, et al.
Activating ESR1 mutations in hormone-resistant metastatic breast cancer.
Nat Genet. 2013 Dec;45(12):1446-51. doi: 10.1038/ng.2823. PMID: 24185510.
Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y.
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.
Genet Med. 2013 Oct;15(10):824-32. doi: 10.1038/gim.2013.120. Epub 2013 Sep 26. PMID: 24071794.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. PMID: 24088041.
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, et al.
De novo mutations in histone-modifying genes in congenital heart disease.
Nature. 2013 Jun 13;498(7453):220-3. doi: 10.1038/nature12141. PMID: 23665959.
2012
Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ.
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15. PMID: 22422049.
Veenstra DL, Piper M, Haddow JE, Pauker SG, Klein R, Richards CS, Tunis SR, Djulbegovic B, Marrone M, Lin JS, Berg AO, Calonge N.
Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update.
Genet Med. 2013 Jan;15(1):14-24. doi: 10.1038/gim.2012.106. Review. PMID: 22955111.