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Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings
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Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings

Reble, Emma ; Gutierrez Salazar, Mariana ; Zakoor, Kathleen-Rose ; Khalouei, Sam ; Clausen, Marc ; Kodida, Rita ; Shickh, Salma ; Mighton, Chloe ; Cohn, Iris ; Schrader, Kasmintan A. ; Kim, Raymond H. ; Lerner-Ellis, Jordan ; Bombard, Yvonne

Human genetics, 2021-03, Vol.140 (3), p.493-504 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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2
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
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Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

Luca, Stephanie ; Clausen, Marc ; Shaw, Angela ; Lee, Whiwon ; Krishnapillai, Suvetha ; Adi-Wauran, Ella ; Faghfoury, Hanna ; Costain, Gregory ; Jobling, Rebekah ; Aronson, Melyssa ; Liston, Eriskay ; Silver, Josh ; Shuman, Cheryl ; Chad, Lauren ; Hayeems, Robin Z. ; Bombard, Yvonne

Human genetics, 2023-03, Vol.142 (3), p.321-330 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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3
Patient-facing digital tools for delivering genetic services: a systematic review
Patient-facing digital tools for delivering genetic services: a systematic review
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Patient-facing digital tools for delivering genetic services: a systematic review

Lee, Whiwon ; Shickh, Salma ; Assamad, Daniel ; Luca, Stephanie ; Clausen, Marc ; Somerville, Cherith ; Tafler, Abby ; Shaw, Angela ; Hayeems, Robin ; Bombard, Yvonne ; Bombard, Yvonne ; Hayeems, Robin ; Aronson, Melyssa ; Bernier, Francois ; Brudno, Michael ; Carroll, June C ; Chad, Lauren ; Clausen, Marc ; Cohn, Ronald ; Costain, Gregory ; Dhalla, Irfan ; Faghfoury, Hanna ; Friedman, Jan ; Hewson, Stacy ; Jobling, Rebekah ; Kodida, Rita ; Laberge, Anne-Marie ; Lerner-Ellis, Jordan ; Liston, Eriskay ; Luca, Stephanie ; Mamdani, Muhammad ; Marshall, Christian ; Osmond, Matthew ; Pham, Quynh ; Reble, Emma ; Rudzicz, Frank ; Seto, Emily ; Shastri-Estrada, Serena ; Shuman, Cheryl ; Silver, Josh ; Smith, Maureen ; Thorpe, Kevin E ; Ungar, Wendy ; Jamieson, Trevor

Journal of medical genetics, 2023-01, Vol.60 (1), p.1-10 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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4
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes
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Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes

Ghemlas, Ibrahim ; Li, Hongbing ; Zlateska, Bozana ; Klaassen, Robert ; Fernandez, Conrad V ; Yanofsky, Rochelle A ; Wu, John ; Pastore, Yves ; Silva, Mariana ; Lipton, Jeff H ; Brossard, Josee ; Michon, Bruno ; Abish, Sharon ; Steele, MacGregor ; Sinha, Roona ; Belletrutti, Mark ; Breakey, Vicky R ; Jardine, Lawrence ; Goodyear, Lisa ; Sung, Lillian ; Dhanraj, Santhosh ; Reble, Emma ; Wagner, Amanda ; Beyene, Joseph ; Ray, Peter ; Meyn, Stephen ; Cada, Michaela ; Dror, Yigal

Journal of medical genetics, 2015-09, Vol.52 (9), p.575-584 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings
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A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings

Sam, Jordan ; Reble, Emma ; Kodida, Rita ; Shaw, Angela ; Clausen, Marc ; Salazar, Mariana Gutierrez ; Shickh, Salma ; Mighton, Chloe ; Carroll, June C. ; Armel, Susan Randall ; Aronson, Melyssa ; Capo-Chichi, José-Mario ; Cohn, Iris ; Eisen, Andrea ; Elser, Christine ; Graham, Tracy ; Ott, Karen ; Panchal, Seema ; Piccinin, Carolyn ; Schrader, Kasmintan A. ; Kim, Raymond H. ; Lerner-Ellis, Jordan ; Bombard, Yvonne

Human genetics, 2022-12, Vol.141 (12), p.1875-1885 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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6
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

Shickh, Salma ; Gutierrez Salazar, Mariana ; Zakoor, Kathleen-Rose ; Lázaro, Conxi ; Gu, Jessica ; Goltz, Jamie ; Kleinman, Dakota ; Noor, Abdul ; Khalouei, Sam ; Mighton, Chloe ; Reble, Emma ; Kodida, Rita ; Bombard, Yvonne ; DiTroia, Stephanie ; Baxter, Samantha ; Watkins, Nicholas ; Care, Melanie ; Adler, Arnon ; Horsburgh, Sheri ; Morar, Oana ; Murphy, Jillian ; Nevay, Dayna-Lynn ; Szybowska, Marta ; Aronson, Melyssa ; Panchal, Seema ; Godoy, Ruth ; Holter, Spring ; Randall Armel, Susan ; Semotiuk, Kara ; Elser, Christine ; Kim, Raymond H ; Chitayat, David ; So, Joyce ; Faghfoury, Hanna ; Silver, Josh ; Morel, Chantal F ; Lerner-Ellis, Jordan

Journal of medical genetics, 2021-04, Vol.58 (4), p.275-283 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
A model for the return and referral of all clinically significant secondary findings of genomic sequencing
A model for the return and referral of all clinically significant secondary findings of genomic sequencing
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A model for the return and referral of all clinically significant secondary findings of genomic sequencing

Kodida, Rita ; Reble, Emma ; Clausen, Marc ; Shickh, Salma ; Mighton, Chloe ; Sam, Jordan ; Forster, Nicole ; Panchal, Seema ; Aronson, Melyssa ; Semotiuk, Kara ; Graham, Tracy ; Silberman, Yael ; Randall Armel, Susan ; McCuaig, Jeanna M ; Cohn, Iris ; Morel, Chantal F ; Elser, Christine ; Eisen, Andrea ; Carroll, June C ; Glogowski, Emily ; Schrader, Kasmintan A ; Di Gioacchino, Vanessa ; Lerner-Ellis, Jordan ; Kim, Raymond H ; Bombard, Yvonne ; Bombard, Yvonne ; Armel, Susan Randall ; Aronson, Melyssa ; Baxter, Nancy ; Bond, Kenneth ; Capo-Chichi, José-Mario ; Carroll, June C ; Caulfield, Timothy ; Clausen, Marc ; Clifford, Tammy J ; Cohn, Iris ; Dhalla, Irfan ; Earle, Craig C ; Eisen, Andrea ; Elser, Christine ; Evans, Michael ; Glogowski, Emily ; Graham, Tracy ; Greenfeld (Kolomietz), Elena ; Hamilton, Jada G ; Isaranuwatchai, Wanrudee ; Kastner, Monika ; Kim, Raymond H ; Laupacis, Andreas ; Lerner-Ellis, Jordan ; Morel, Chantal F ; Mujoomdar, Michelle ; Noor, Abdul ; Offit, Kenneth ; Panchal, Seema ; Robson, Mark E ; Scherer, Stephen W ; Scheer, Adena ; Schrader, Kasmintan A ; Sullivan, Terrence ; Thorpe, Kevin E

Journal of medical genetics, 2023-08, Vol.60 (8), p.733-739 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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