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Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings
Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings
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Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings

Sebastian, Agnes ; Carroll, June C ; Vanstone, Meredith ; Clausen, Marc ; Kodida, Rita ; Reble, Emma ; Mighton, Chloe ; Shickh, Salma ; Aronson, Melyssa ; Eisen, Andrea ; Elser, Christine ; Lerner-Ellis, Jordan ; Kim, Raymond H ; Bombard, Yvonne

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.595-603 [Periódico revisado por pares]

England: Nature Publishing Group

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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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3
VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophrenia
VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophrenia
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VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophrenia

Reble, Emma ; Castellani, Christina A ; Melka, Melkaye G ; O’Reilly, Richard ; Singh, Shiva M

Psychiatric genetics, 2017-04, Vol.27 (2), p.62-70 [Periódico revisado por pares]

England: Copyright Wolters Kluwer Health, Inc. All rights reserved

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4
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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5
P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing
P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing
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P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing

Marc Clausen ; Stephanie Luca ; Emma Reble ; Rita Kodida ; Saumeh Saeedi ; Daena Hirjikaka ; Lauren Chad ; Gregory Costain ; Hanna Faghfoury ; Josh Silver ; Serena Shastri-Estrada ; Maureen Smith ; Robin Hayeems ; Yvonne Bombard

Genetics in Medicine Open, 2024-01, Vol.2, p.101415 [Periódico revisado por pares]

Elsevier

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6
P538: Curious but cautious: Patients’ preferences for all types of clinically actionable genomic incidental results
P538: Curious but cautious: Patients’ preferences for all types of clinically actionable genomic incidental results
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P538: Curious but cautious: Patients’ preferences for all types of clinically actionable genomic incidental results

Salma Shickh ; Rita Kodida ; Chloe Mighton ; Marc Clausen ; Emma Reble ; Jordan Sam ; Sonya Grewal ; Seema Panchal ; Melyssa Aronson ; Susan Armel ; Tracy Graham ; Christine Elser ; Andrea Eisen ; June Carroll ; Emily Glogowski ; Kasmintan Schrader ; Kevin Thorpe ; Jordan Lerner-Ellis ; Raymond Kim ; Yvonne Bombard

Genetics in Medicine Open, 2024-01, Vol.2, p.101437 [Periódico revisado por pares]

Elsevier

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7
P382: Professionals’ perspectives on the use of digital tools to support patient recontact in clinical genetics
P382: Professionals’ perspectives on the use of digital tools to support patient recontact in clinical genetics
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P382: Professionals’ perspectives on the use of digital tools to support patient recontact in clinical genetics

Guylaine D'Amours ; Emma Reble ; Vernie Aguda ; Marc Clausen ; Salma Shickh ; Chloe Mighton ; June Carroll ; Jordan Lerner-Ellis ; Tanya Nelson ; Julie Richer ; Kasmintan Schrader ; Emily Seto ; Serena Shastri-Estrada ; Kevin Thorpe ; Yvonne Bombard

Genetics in Medicine Open, 2023-01, Vol.1 (1), p.100418 [Periódico revisado por pares]

Elsevier

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8
P543: Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population
P543: Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population
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P543: Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population

Emma Reble ; Jordan Sam ; Rita Kodida ; Marc Clausen ; Salma Shickh ; Chloe Mighton ; Jose-Mario Capo-Chichi ; Elena Greenfeld ; Abdul Noor ; Raymond Kim ; Jordan Lerner-Ellis ; Yvonne Bombard

Genetics in Medicine Open, 2023-01, Vol.1 (1), p.100590 [Periódico revisado por pares]

Elsevier

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9
P867: “I worry I don’t have control”: The psychosocial impacts of living with a hereditary cancer syndrome
P867: “I worry I don’t have control”: The psychosocial impacts of living with a hereditary cancer syndrome
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P867: “I worry I don’t have control”: The psychosocial impacts of living with a hereditary cancer syndrome

Jordan Sam ; Brooklyn Sparkes ; Marc Clausen ; Carly Butkowsky ; Emma Reble ; Sepideh Rajeziesfahani ; Ridhi Gopalakrishnan ; Vernie Aguda ; Melyssa Aronson ; Derrick Bishop ; Lesa Dawson ; Andrea Eisen ; Tracy Graham ; Jane Green ; Chloe Mighton ; Julee Pauling ; Claudia Pavao ; Petros Pechlivanoglou ; Catriona Remocker ; Sevtap Savas ; Sophie Sun ; Teresa Tiano ; Angelina Tilley ; Kevin Thorpe ; Kasmintan Schrader ; Yvonne Bombard ; Holly Etchegary

Genetics in Medicine Open, 2024-01, Vol.2, p.101781 [Periódico revisado por pares]

Elsevier

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10
P881: Revealing the hidden costs: Exploring the financial toxicity of hereditary cancer syndromes
P881: Revealing the hidden costs: Exploring the financial toxicity of hereditary cancer syndromes
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P881: Revealing the hidden costs: Exploring the financial toxicity of hereditary cancer syndromes

Sepideh Rajeziesfahani ; Jordan Sam ; Carly Butkowsky ; Emma Reble ; Marc Clausen ; Brooklyn Sparkes ; Ridhi Gopalakrishnan ; Vernie Aguda ; Melyssa Aronson ; Derrick Bishop ; Lesa Dawson ; Andrea Eisen ; Tracy Graham ; Jane Green ; Chloe Mighton ; Julee Pauling ; Claudia Pavao ; Petros Pechlivanoglou ; Catriona Remocker ; Sevtap Savas ; Sophie Sun ; Teresa Tiano ; Angelina Tilley ; Kevin Thorpe ; Kasmintan Schrader ; Yvonne Bombard ; Holly Etchegary

Genetics in Medicine Open, 2024-01, Vol.2, p.101795 [Periódico revisado por pares]

Elsevier

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