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Items: 1 to 20 of 95

1.

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Alankarage D, Ip E, Szot JO, Munro J, Blue GM, Harrison K, Cuny H, Enriquez A, Troup M, Humphreys DT, Wilson M, Harvey RP, Sholler GF, Graham RM, Ho JWK, Kirk EP, Pachter N, Chapman G, Winlaw DS, Giannoulatou E, Dunwoodie SL.

Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8.

PMID:
30293987
2.

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Szot JO, Cuny H, Blue GM, Humphreys DT, Ip E, Harrison K, Sholler GF, Giannoulatou E, Leo P, Duncan EL, Sparrow DB, Ho JWK, Graham RM, Pachter N, Chapman G, Winlaw DS, Dunwoodie SL.

Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978.

PMID:
29555671
3.

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R.

Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.

PMID:
30311375
4.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.

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.

Genome Med. 2017 Jan 12;9(1):3. doi: 10.1186/s13073-016-0391-z.

5.

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

Blue GM, Kirk EP, Giannoulatou E, Dunwoodie SL, Ho JW, Hilton DC, White SM, Sholler GF, Harvey RP, Winlaw DS.

J Am Coll Cardiol. 2014 Dec 16;64(23):2498-506. doi: 10.1016/j.jacc.2014.09.048.

6.

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL.

Am J Hum Genet. 2016 May 5;98(5):801-817. doi: 10.1016/j.ajhg.2016.02.024.

7.

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PMID:
30311386
8.

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Minoche AE, Horvat C, Johnson R, Gayevskiy V, Morton SU, Drew AP, Woo K, Statham AL, Lundie B, Bagnall RD, Ingles J, Semsarian C, Seidman JG, Seidman CE, Dinger ME, Cowley MJ, Fatkin D.

Genet Med. 2019 Mar;21(3):650-662. doi: 10.1038/s41436-018-0084-7. Epub 2018 Jul 2.

PMID:
29961767
9.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, Reiss J, Kauffman T, Gilmore MJ, Himes P, Wilfond B, Goddard KAB, Richards CS.

Am J Hum Genet. 2018 Jun 7;102(6):1078-1089. doi: 10.1016/j.ajhg.2018.04.004. Epub 2018 May 10.

10.

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI).

Genet Med. 2018 Sep;20(9):1054-1060. doi: 10.1038/gim.2017.210. Epub 2018 Jan 4.

11.

Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.

Hu P, Qiao F, Wang Y, Meng L, Ji X, Luo C, Xu T, Zhou R, Zhang J, Yu B, Wang L, Wang T, Pan Q, Ma D, Liang D, Xu Z.

Ultrasound Obstet Gynecol. 2018 Aug;52(2):205-211. doi: 10.1002/uog.19042. Epub 2018 Jun 25.

PMID:
29536580
12.

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

El Malti R, Liu H, Doray B, Thauvin C, Maltret A, Dauphin C, Gonçalves-Rocha M, Teboul M, Blanchet P, Roume J, Gronier C, Ducreux C, Veyrier M, Marçon F, Acar P, Lusson JR, Levy M, Beyler C, Vigneron J, Cordier-Alex MP, Heitz F, Sanlaville D, Bonnet D, Bouvagnet P.

Eur J Hum Genet. 2016 Feb;24(2):228-36. doi: 10.1038/ejhg.2015.105. Epub 2015 May 27.

13.

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Oberg JA, Glade Bender JL, Sulis ML, Pendrick D, Sireci AN, Hsiao SJ, Turk AT, Dela Cruz FS, Hibshoosh H, Remotti H, Zylber RJ, Pang J, Diolaiti D, Koval C, Andrews SJ, Garvin JH, Yamashiro DJ, Chung WK, Emerson SG, Nagy PL, Mansukhani MM, Kung AL.

Genome Med. 2016 Dec 23;8(1):133. doi: 10.1186/s13073-016-0389-6.

14.

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.

Kim YE, Ki CS, Jang MA.

Ann Lab Med. 2019 Sep;39(5):421-429. doi: 10.3343/alm.2019.39.5.421. Review. Erratum in: Ann Lab Med. 2019 Nov;39(6):606.

15.

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.

16.

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.

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.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

17.

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

Whiffin N, Walsh R, Govind R, Edwards M, Ahmad M, Zhang X, Tayal U, Buchan R, Midwinter W, Wilk AE, Najgebauer H, Francis C, Wilkinson S, Monk T, Brett L, O'Regan DP, Prasad SK, Morris-Rosendahl DJ, Barton PJR, Edwards E, Ware JS, Cook SA.

Genet Med. 2018 Oct;20(10):1246-1254. doi: 10.1038/gim.2017.258. Epub 2018 Jan 25.

18.

Clinical interpretation and implications of whole-genome sequencing.

Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T.

JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717.

19.

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS, Solomon BD, Vilboux T, Khromykh A, Baveja R, Bodian DL.

Mol Genet Genomic Med. 2018 Mar;6(2):200-212. doi: 10.1002/mgg3.357. Epub 2018 Jan 25.

20.

Secondary findings in 421 whole exome-sequenced Chinese children.

Chen W, Li W, Ma Y, Zhang Y, Han B, Liu X, Zhao K, Zhang M, Mi J, Fu Y, Zhou Z.

Hum Genomics. 2018 Sep 14;12(1):42. doi: 10.1186/s40246-018-0174-2.

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