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Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery
Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery
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Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

Shickh, Salma ; Hirjikaka, Daena ; Clausen, Marc ; Kodida, Rita ; Mighton, Chloe ; Reble, Emma ; Sam, Jordan ; Panchal, Seema ; Aronson, Melyssa ; Graham, Tracy ; Armel, Susan Randall ; Glogowski, Emily ; Elser, Christine ; Eisen, Andrea ; Carroll, June C ; Shuman, Cheryl ; Seto, Emily ; Baxter, Nancy N ; Scheer, Adena ; Shastri-Estrada, Serena ; Feldman, Geoff ; Thorpe, Kevin E ; Schrader, Kasmintan A ; Lerner-Ellis, Jordan ; Kim, Raymond H ; Faghfoury, Hanna ; Bombard, Yvonne

BMJ open, 2022-04, Vol.12 (4), p.e060899-e060899 [Periódico revisado por pares]

England: British Medical Journal Publishing Group

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2
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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3
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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4
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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5
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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6
Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial
Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial
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Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial

Shickh, Salma ; Clausen, Marc ; Mighton, Chloe ; Gutierrez Salazar, Mariana ; Zakoor, Kathleen-Rose ; Kodida, Rita ; Reble, Emma ; Elser, Christine ; Eisen, Andrea ; Panchal, Seema ; Aronson, Melyssa ; Graham, Tracy ; Armel, Susan Randall ; Morel, Chantal F ; Fattouh, Ramzi ; Glogowski, Emily ; Schrader, Kasmintan A ; Hamilton, Jada G ; Offit, Kenneth ; Robson, Mark ; Carroll, June C ; Isaranuwatchai, Wanrudee ; Kim, Raymond H ; Lerner-Ellis, Jordan ; Thorpe, Kevin E ; Laupacis, Andreas ; Bombard, Yvonne

BMJ open, 2019-10, Vol.9 (10), p.e031092-e031092 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes
Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes
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Application of Novel Next Generation Sequencing Gene Panel Assay to Genetic and Clinical Diagnosis of Inherited Bone Marrow Failure Syndromes

Ghemlas, Ibrahim ; Li, Hongbing ; Zlateska, Bozana ; Klaassen, Robert J. ; Fernandez, Conrad V ; Yanofsky, Rochelle ; Wu, John K. ; Pastore, Yves ; Silva, Mariana ; Lipton, Jeffrey H. ; Brossard, Josse ; Bruno, Michon ; Abish, Sharon ; Steele, MacGregor ; Sinha, Roona ; Belletrutti, Mark J. ; 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

Blood, 2014-12, Vol.124 (21), p.257-257 [Periódico revisado por pares]

Elsevier Inc

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