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1
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
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Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Gross, Andrew M ; Ajay, Subramanian S ; Rajan, Vani ; Brown, Carolyn ; Bluske, Krista ; Burns, Nicole J ; Chawla, Aditi ; Coffey, Alison J ; Malhotra, Alka ; Scocchia, Alicia ; Thorpe, Erin ; Dzidic, Natasa ; Hovanes, Karine ; Sahoo, Trilochan ; Dolzhenko, Egor ; Lajoie, Bryan ; Khouzam, Amirah ; Chowdhury, Shimul ; Belmont, John ; Roller, Eric ; Ivakhno, Sergii ; Tanner, Stephen ; McEachern, Julia ; Hambuch, Tina ; Eberle, Michael ; Hagelstrom, R Tanner ; Bentley, David R ; Perry, Denise L ; Taft, Ryan J

Genetics in medicine, 2019-05, Vol.21 (5), p.1121-1130 [Periódico revisado por pares]

United States: Elsevier Limited

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2
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
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Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Van Opstal, Diane ; van Maarle, Merel C ; Lichtenbelt, Klaske ; Weiss, Marjan M ; Schuring-Blom, Heleen ; Bhola, Shama L ; Hoffer, Mariette J V ; Huijsdens-van Amsterdam, Karin ; Macville, Merryn V ; Kooper, Angelique J A ; Faas, Brigitte H W ; Govaerts, Lutgarde ; Tan-Sindhunata, Gita M ; den Hollander, Nicolette ; Feenstra, Ilse ; Galjaard, Robert-Jan H ; Oepkes, Dick ; Ghesquiere, Stijn ; Brouwer, Rutger W W ; Beulen, Lean ; Bollen, Sander ; Elferink, Martin G ; Straver, Roy ; Henneman, Lidewij ; Page-Christiaens, Godelieve C ; Sistermans, Erik A

Genetics in medicine, 2018-05, Vol.20 (5), p.480-485 [Periódico revisado por pares]

United States: Elsevier Limited

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3
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Pfundt, Rolph ; Del Rosario, Marisol ; Vissers, Lisenka E L M ; Kwint, Michael P ; Janssen, Irene M ; de Leeuw, Nicole ; Yntema, Helger G ; Nelen, Marcel R ; Lugtenberg, Dorien ; Kamsteeg, Erik-Jan ; Wieskamp, Nienke ; Stegmann, Alexander P A ; Stevens, Servi J C ; Rodenburg, Richard J T ; Simons, Annet ; Mensenkamp, Arjen R ; Rinne, Tuula ; Gilissen, Christian ; Scheffer, Hans ; Veltman, Prof Dr, Joris A ; Hehir-Kwa, Jayne Y

Genetics in medicine, 2017-06, Vol.19 (6), p.667-675 [Periódico revisado por pares]

United States: Elsevier Limited

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4
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
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Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Friedman, Jan M ; Bombard, Yvonne ; Cornel, Martina C ; Fernandez, Conrad V ; Junker, Anne K ; Plon, Sharon E ; Stark, Zornitza ; Knoppers, Bartha Maria

Genetics in medicine, 2019-02, Vol.21 (2), p.498-504 [Periódico revisado por pares]

United States: Elsevier Limited

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5
The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
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The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Board of Directors

Genetics in medicine, 2019-07, Vol.21 (7), p.1467-1468 [Periódico revisado por pares]

United States: Elsevier Inc

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6
A taxonomy of medical uncertainties in clinical genome sequencing
A taxonomy of medical uncertainties in clinical genome sequencing
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A taxonomy of medical uncertainties in clinical genome sequencing

Han, Paul K J ; Umstead, Kendall L ; Bernhardt, Barbara A ; Green, Robert C ; Joffe, Steven ; Koenig, Barbara ; Krantz, Ian ; Waterston, Leo B ; Biesecker, Leslie G ; Biesecker, Barbara B

Genetics in medicine, 2017-08, Vol.19 (8), p.918-925 [Periódico revisado por pares]

United States: Elsevier Limited

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7
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results
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Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results

Brothers, Kyle B. ; East, Kelly M. ; Kelley, Whitley V. ; Wright, M. Frances ; Westbrook, Matthew J. ; Rich, Carla A. ; Bowling, Kevin M. ; Lose, Edward J. ; Bebin, E. Martina ; Simmons, Shirley ; Myers, John A. ; Barsh, Greg ; Myers, Richard M. ; Cooper, Greg M. ; Pulley, Jill M. ; Rothstein, Mark A. ; Clayton, Ellen Wright

Genetics in medicine, 2017-03, Vol.19 (3), p.337-344 [Periódico revisado por pares]

United States: Elsevier Inc

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8
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Schoch, Kelly ; Spillmann, Rebecca ; Tan, Queenie K.-G. ; McConkie-Rosell, Allyn ; Jiang, Yong-Hui ; Goldstein, David B. ; Adams, David R. ; Allard, Patrick ; Ashley, Euan A. ; Bacino, Carlos A. ; Beggs, Alan H. ; Birch, Camille L. ; Bonner, Devon ; Boone, Braden E. ; Brown, Donna M. ; Chen, Shan ; Coakley, Terra R. ; Cogan, Joy D. ; Cooper, Cynthia M. ; Cope, Heidi ; Craigen, William J. ; Davidson, Jean M. ; Dayal, Jyoti G. ; Dell’Angelica, Esteban C. ; Dipple, Katrina M. ; Donnell-Fink, Laurel A. ; Dorrani, Naghmeh ; Draper, David D. ; Dries, Annika M. ; Eckstein, David J. ; Emrick, Lisa T. ; Enns, Gregory M. ; Esteves, Cecilia ; Estwick, Tyra ; Fernandez, Liliana ; Ferreira, Carlos ; Fisher, Paul G. ; Fogel, Brent L. ; Friedman, Noah D. ; Gahl, William A. ; Goldstein, David B. ; Gourdine, Jean-Philippe F. ; Haendel, Melissa ; Handley, Lori H. ; Krasnewich, Donna M. ; Krier, Joel B. ; Lazar, Jozef ; Levy, Shawn E. ; Lincoln, Sharyn A. ; Loo, Sandra K. ; Loscalzo, Joseph ; Maas, Richard L. ; MacRae, Calum A. ; Majcherska, Marta M. ; Mamounas, Laura A. ; Manolio, Teri A. ; Markello, Thomas C. ; Marom, Ronit ; Martin, Martin G. ; McConkie-Rosell, Allyn ; McCormack, Colleen E. ; Might, Matthew ; Morimoto, Marie ; Mulvihill, John J. ; Murphy, Jennifer L. ; Muzny, Donna M. ; Nehrebecky, Michele E. ; Nelson, Stan F. ; Newberry, J. Scott ; Newman, John H. ; Nicholas, Sarah K. ; Pallais, J. Carl ; Palmer, Christina GS ; Parker, Neil H. ; Phillips, John A. ; Postlethwait, John H. ; Reuter, Chloe M. ; Sampson, Jacinda B. ; Scott, Daryl A. ; Sharma, Prashant ; Shashi, Vandana ; Silverman, Edwin K. ; Tifft, Cynthia J. ; Toro, Camilo ; Tran, Alyssa A. ; Urv, Tiina K. ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Walsh, Chris A. ; Wan, Jijun ; Wangler, Michael F. ; Ward, Patricia A. ; Wheeler, Matthew T. ; Wolfe, Lynne A. ; Worthey, Elizabeth A. ; Yamamoto, Shinya ; Yang, Yaping ; Yu, Guoyun ; Zhao, Chunli ; Zheng, Allison

Genetics in medicine, 2019-01, Vol.21 (1), p.161-172 [Periódico revisado por pares]

United States: Elsevier Inc

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9
The advent of personal genome sequencing
The advent of personal genome sequencing
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The advent of personal genome sequencing

Drmanac, Radoje

Genetics in medicine, 2011-03, Vol.13 (3), p.188-190 [Periódico revisado por pares]

United States: Elsevier Limited

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10
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
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Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Reuter, Miriam S ; Jobling, Rebekah ; Chaturvedi, Rajiv R ; Manshaei, Roozbeh ; Costain, Gregory ; Heung, Tracy ; Curtis, Meredith ; Hosseini, S Mohsen ; Liston, Eriskay ; Lowther, Chelsea ; Oechslin, Erwin ; Sticht, Heinrich ; Thiruvahindrapuram, Bhooma ; Mil, Spencer van ; Wald, Rachel M ; Walker, Susan ; Marshall, Christian R ; Silversides, Candice K ; Scherer, Stephen W ; Kim, Raymond H ; Bassett, Anne S

Genetics in medicine, 2019-04, Vol.21 (4), p.1001-1007 [Periódico revisado por pares]

United States: Elsevier Limited

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