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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Among authors: conlin lk. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Mosaicism and clinical genetics.
Spinner NB, Conlin LK. Spinner NB, et al. Among authors: conlin lk. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):397-405. doi: 10.1002/ajmg.c.31421. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424979 Review.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
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, Vetter VL. Li MH, et al. Among authors: conlin lk. Hum Genomics. 2015 Jul 19;9(1):15. doi: 10.1186/s40246-015-0038-y. Hum Genomics. 2015. PMID: 26187847 Free PMC article.
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
Salas-Labadía C, Cervantes-Barragán DE, Cruz-Alcívar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Durán-McKinster C, Dávila-Ortíz de Montellano DJ, Del Castillo-Ruiz V, Pérez-Vera P. Salas-Labadía C, et al. Among authors: conlin lk. Am J Med Genet A. 2014 Jul;164A(7):1765-9. doi: 10.1002/ajmg.a.36503. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677512 Review.
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA. Li F, et al. Among authors: conlin lk. Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132918
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