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A guide for functional analysis of BRCA1 variants of uncertain significance
A guide for functional analysis of BRCA1 variants of uncertain significance
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A guide for functional analysis of BRCA1 variants of uncertain significance

Millot, Gaël A. ; Carvalho, Marcelo A. ; Caputo, Sandrine M. ; Vreeswijk, Maaike P.G. ; Brown, Melissa A. ; Webb, Michelle ; Rouleau, Etienne ; Neuhausen, Susan L. ; Hansen, Thomas v. O. ; Galli, Alvaro ; Brandão, Rita D. ; Blok, Marinus J. ; Velkova, Aneliya ; Couch, Fergus J. ; Monteiro, Alvaro N.A.

Human mutation, 2012-11, Vol.33 (11), p.1526-1537 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Thomson, Kate L. ; Ormondroyd, Elizabeth ; Harper, Andrew R. ; Dent, Tim ; McGuire, Karen ; Baksi, John ; Blair, Edward ; Brennan, Paul ; Buchan, Rachel ; Bueser, Teofila ; Campbell, Carolyn ; Carr-White, Gerald ; Cook, Stuart ; Daniels, Matthew ; Deevi, Sri V.V. ; Goodship, Judith ; Hayesmoore, Jesse B.G. ; Henderson, Alex ; Lamb, Teresa ; Prasad, Sanjay ; Rayner-Matthews, Paula ; Robert, Leema ; Sneddon, Linda ; Stark, Hannah ; Walsh, Roddy ; Ware, James S. ; Farrall, Martin ; Watkins, Hugh C.

Genetics in medicine, 2019-07, Vol.21 (7), p.1576-1584 [Periódico revisado por pares]

United States: Elsevier Inc

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3
A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family
A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family
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A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family

Sexton, A. ; Rawlings, L. ; McKavanagh, G. ; Simons, K. ; Winship, I.

Journal of genetic counseling, 2015-12, Vol.24 (6), p.882-889 [Periódico revisado por pares]

New York: Springer US

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4
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history
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Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

Chaffee, Kari G. ; Oberg, Ann L. ; McWilliams, Robert R. ; Majithia, Neil ; Allen, Brian A. ; Kidd, John ; Singh, Nanda ; Hartman, Anne-Renee ; Wenstrup, Richard J. ; Petersen, Gloria M.

Genetics in medicine, 2018-01, Vol.20 (1), p.119-127 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
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Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer

Kleiblova, Petra ; Stolarova, Lenka ; Krizova, Katerina ; Lhota, Filip ; Hojny, Jan ; Zemankova, Petra ; Havranek, Ondrej ; Vocka, Michal ; Cerna, Marta ; Lhotova, Klara ; Borecka, Marianna ; Janatova, Marketa ; Soukupova, Jana ; Sevcik, Jan ; Zimovjanova, Martina ; Kotlas, Jaroslav ; Panczak, Ales ; Vesela, Kamila ; Cervenkova, Jana ; Schneiderova, Michaela ; Burocziova, Monika ; Burdova, Kamila ; Stranecky, Viktor ; Foretova, Lenka ; Machackova, Eva ; Tavandzis, Spiros ; Kmoch, Stanislav ; Macurek, Libor ; Kleibl, Zdenek

International journal of cancer, 2019-10, Vol.145 (7), p.1782-1797 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants
Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants
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Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants

Fridman, Hila ; Behar, Doron M. ; Carmi, Shai ; Levy-Lahad, Ephrat

Genetics in medicine, 2020-03, Vol.22 (3), p.646-653 [Periódico revisado por pares]

United States: Elsevier Inc

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7
A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one
A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one
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A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance—functional analysis reveals the pathogenic one

Kantelinen, Jukka ; Hansen, Thomas v. O. ; Kansikas, Minttu ; Krogh, Lotte Nylandsted ; Korhonen, Mari K. ; Ollila, Saara ; Nyström, Minna ; Gerdes, Anne-Marie ; Kariola, Reetta

Familial cancer, 2011-09, Vol.10 (3), p.515-520 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
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Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

Smid, B.E. ; Hollak, C.E.M. ; Poorthuis, B.J.H.M. ; van den Bergh Weerman, M.A. ; Florquin, S. ; Kok, W.E.M. ; Lekanne Deprez, R.H. ; Timmermans, J. ; Linthorst, G.E.

Clinical genetics, 2015-08, Vol.88 (2), p.161-166 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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9
Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance
Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance
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Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance

Solomon, Ilana ; Harrington, Elizabeth ; Hooker, Gillian ; Erby, Lori ; Axilbund, Jennifer ; Hampel, Heather ; Semotiuk, Kara ; Blanco, Amie ; Klein, William M. P. ; Giardiello, Francis ; Leonard, Lori

Journal of genetic counseling, 2017-08, Vol.26 (4), p.866-877 [Periódico revisado por pares]

New York: Springer US

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10
Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing
Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing
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Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing

Neustadt, Ahna ; Owczarzak, Jill ; Mu, Weiyi ; Cohen, Julie S. ; Erby, Lori

Journal of genetic counseling, 2020-12, Vol.29 (6), p.992-1003 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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