Additional file 1 of Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

Kevin M. Bowling (14174925)
Michelle L. Thompson (14174928)
Melissa A. Kelly (2942553)
Sarah Scollon (5185229)
Anne M. Slavotinek (4379437)
Bradford C. Powell (10494384)
Brian M. Kirmse (14174931)
Laura G. Hendon (14174934)
Kyle B. Brothers (10314905)
Bruce R. Korf (6566618)
Gregory M. Cooper (9954637)
John M. Greally (9350936)
Anna C. E. Hurst (6034232)

Publication date

November 2022

DOI

10.6084/m9.figshare.21621843.v1

Abstract

Additional file 1: Table S1. Incidental genetic findings identified across four study sites conducting genomic testing for pediatric patients (expanded version of Table 1)

Extracted data

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Data Protection

Additional file 1 of Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

Kevin M. Bowling (14174925)
Michelle L. Thompson (14174928)
Melissa A. Kelly (2942553)
Sarah Scollon (5185229)
Anne M. Slavotinek (4379437)
Bradford C. Powell (10494384)
Brian M. Kirmse (14174931)
Laura G. Hendon (14174934)
Kyle B. Brothers (10314905)
Bruce R. Korf (6566618)
Gregory M. Cooper (9954637)
John M. Greally (9350936)
Anna C. E. Hurst (6034232)

Open link

Publication date

November 2022

DOI

10.6084/m9.figshare.21621843.v1

Abstract

Additional file 1: Table S1. Incidental genetic findings identified across four study sites conducting genomic testing for pediatric patients (expanded version of Table 1)

Extracted data

Green, Robert C.
Berg, Jonathan S.
Berry, Gerard T.
Biesecker, Leslie G.
Dimmock, David P.
Evans, James P.
Grody, Wayne W.
Hegde, Madhuri R.
Kalia, Sarah
Korf, Bruce R.
Krantz, Ian
McGuire, Amy L.
Miller, David T.
Murray, Michael F.
Nussbaum, Robert L.
Plon, Sharon E.
Rehm, Heidi L.
Jacob, Howard J.

January 2012

To explore specific conditions and types of genetic variants that specialists in genetics recommend ...

Recommendations for returning genomic incidental findings? We need to talk!

Burke, Wylie
Matheny Antommaria, Armand H.
Bennett, Robin
Botkin, Jeffrey
Clayton, Ellen Wright
Henderson, Gail E.
Holm, Ingrid A.
Jarvik, Gail P.
Khoury, Muin J.
Knoppers, Bartha Maria
Press, Nancy A.
Ross, Lainie Friedman
Rothstein, Mark A.
Saal, Howard
Uhlmann, Wendy R.
Wilfond, Benjamin
Wolf, Susan M.
Zimmern, Ron

January 2013

The American College of Medical Genetics and Genomics recently issued recommendations for reporting ...

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Berg, Jonathan S.
Amendola, Laura M.
Eng, Christine
Van Allen, Eliezer
Gray, Stacy W.
Wagle, Nikhil
Rehm, Heidi L.
DeChene, Elizabeth T.
Dulik, Matthew C.
Hisama, Fuki M.
Burke, Wylie
Spinner, Nancy B.
Garraway, Levi
Green, Robert C.
Plon, Sharon
Evans, James P.
Jarvik, Gail P.

January 2013

As genomic and exomic testing expands in both the research and clinical arenas, determining whether,...

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

Emily Olfson (791210)
Catherine E. Cottrell (791211)
Nicholas O. Davidson (299538)
Christina A. Gurnett (364666)
Jonathan W. Heusel (420520)
Nathan O. Stitziel (606905)
Li-Shiun Chen (485568)
Sarah Hartz (791212)
Rakesh Nagarajan (46985)
Nancy L. Saccone (43965)
Laura J. Bierut (113583)

September 2015

<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...

Additional file 2: Table S2. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Katalin Komlosi (4801965)
Stefan Diederich (4801959)
Desiree Fend-Guella (4801962)
Oliver Bartsch (342921)
Jennifer Winter (87429)
Ulrich Zechner (212594)
Michael Beck (703654)
Peter Meyer (41793)
Susann Schweiger (87433)

January 2018

Additional variants in the couples. Additional file describing additional possibly pathogenic varian...

Additional file 1 of The role of exome sequencing in childhood interstitial or diffuse lung disease

Suzanna E. L. Temple (13770222)
Gladys Ho (12910481)
Bruce Bennetts (13770225)
Kirsten Boggs (13770228)
Nada Vidic (13770231)
David Mowat (3149994)
John Christodoulou (450398)
André Schultz (2549842)
Thet Gayagay (13770234)
Tony Roscioli (206558)
Ying Zhu (90057)
Sebastian Lunke (182250)
David Armstrong (109098)
Joanne Harrison (1261725)
Nitin Kapur (13770237)
Tim McDonald (13770240)
Hiran Selvadurai (13770243)
Andrew Tai (8499390)
Zornitza Stark (8128434)
Adam Jaffe (313619)

September 2022

Additional file 1. Table S1. Presenting clinical features of individuals found not to have clinicall...

Additional file 1: of Possible roles of genetic variations in chemotherapy related cardiotoxicity in pediatric acute lymphoblastic leukemia and osteosarcoma

Judit Sági (5480141)
Bálint Egyed (5480153)
Andrea Kelemen (5480144)
Nóra Kutszegi (442096)
Márta Hegyi (5480150)
András Gézsi (177724)
Martina Herlitschke (5480156)
Andrea Rzepiel (5480159)
Lili Fodor (5480162)
Gábor Ottóffy (5480147)
Gábor Kovács (398280)
Dániel Erdélyi (5480138)
Csaba Szalai (177763)
Ágnes Semsei (5480135)

July 2018

Information about the studied SNPs. Information on the selected SNPs is shown in an additional table...

Additional file 1: Table S1. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Katalin Komlosi (4801965)
Stefan Diederich (4801959)
Desiree Fend-Guella (4801962)
Oliver Bartsch (342921)
Jennifer Winter (87429)
Ulrich Zechner (212594)
Michael Beck (703654)
Peter Meyer (41793)
Susann Schweiger (87433)

January 2018

List of the 430 genes investigated in the couples. Additional file listing the 430 genes for severe ...

Additional file 3: of Secondary findings in 421 whole exome-sequenced Chinese children

Wen Chen (30046)
Wenke Li (1702348)
Yi Ma (167857)
Yujing Zhang (385508)
Bianmei Han (5749973)
Xuewen Liu (4376128)
Kun Zhao (279513)
Meixian Zhang (563894)
Jie Mi (152887)
Yuanyuan Fu (510417)
Zhou Zhou (154603)

September 2018

Information on known pathogenic or expected pathogenic variants according to the ACMG reportable gen...

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

Brooke S. Staley
Laura V. Milko
Margaret Waltz
Ida Griesemer
Lonna Mollison
Tracey L. Grant
Laura Farnan
Myra Roche
Angelo Navas
Alexandra Lightfoot
Ann Katherine M. Foreman
Julianne M. O’Daniel
Suzanne C. O’Neill
Feng-Chang Lin
Tamara S. Roman
Alicia Brandt
Bradford C. Powell
Christine Rini
Jonathan S. Berg
Jeannette T. Bensen

June 2021

Abstract Background Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey...

Additional file 1: of Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Han Fang (3612260)
Yiyang Wu (3774247)
Hui Yang (91136)
Margaret Yoon (3774253)
Laura JimĂŠnez-BarrĂłn (3774259)
David Mittelman (329829)
Reid Robison (3774250)
Kai Wang (21246)
Gholson Lyon (3774244)

February 2017

Supplemental Tables and Figures. This file includes supplemental figures S1-S8, tables S1-S10, pharm...

Additional file 1: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Alain Calender (395231)
Pierre Rollat Farnier (4917229)
Adrien Buisson (4917238)
Stéphane Pinson (4917244)
Abderrazzaq Bentaher (3450752)
Serge Lebecque (4917241)
Harriet Corvol (313303)
Rola Abou Taam (4917232)
Véronique Houdouin (4917250)
Claire Bardel (91540)
Pascal Roy (2591074)
Gilles Devouassoux (441316)
Vincent Cottin (321742)
Pascal Seve (371214)
Jean-François Bernaudin (4389865)
Clarice Lim (4917247)
Thomas Weichhart (629857)
Dominique Valeyre (441804)
Yves Pacheco (3450761)
Annick Clement (4917226)
Nadia Nathan (4917235)

March 2018

Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Green, Robert C.
Berg, Jonathan S.
Berry, Gerard T.
Biesecker, Leslie G.
Dimmock, David P.
Evans, James P.
Grody, Wayne W.
Hegde, Madhuri R.
Kalia, Sarah
Korf, Bruce R.
Krantz, Ian
McGuire, Amy L.
Miller, David T.
Murray, Michael F.
Nussbaum, Robert L.
Plon, Sharon E.
Rehm, Heidi L.
Jacob, Howard J.

January 2012

To explore specific conditions and types of genetic variants that specialists in genetics recommend ...

Recommendations for returning genomic incidental findings? We need to talk!

Burke, Wylie
Matheny Antommaria, Armand H.
Bennett, Robin
Botkin, Jeffrey
Clayton, Ellen Wright
Henderson, Gail E.
Holm, Ingrid A.
Jarvik, Gail P.
Khoury, Muin J.
Knoppers, Bartha Maria
Press, Nancy A.
Ross, Lainie Friedman
Rothstein, Mark A.
Saal, Howard
Uhlmann, Wendy R.
Wilfond, Benjamin
Wolf, Susan M.
Zimmern, Ron

January 2013

The American College of Medical Genetics and Genomics recently issued recommendations for reporting ...

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Berg, Jonathan S.
Amendola, Laura M.
Eng, Christine
Van Allen, Eliezer
Gray, Stacy W.
Wagle, Nikhil
Rehm, Heidi L.
DeChene, Elizabeth T.
Dulik, Matthew C.
Hisama, Fuki M.
Burke, Wylie
Spinner, Nancy B.
Garraway, Levi
Green, Robert C.
Plon, Sharon
Evans, James P.
Jarvik, Gail P.

January 2013

As genomic and exomic testing expands in both the research and clinical arenas, determining whether,...

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

Emily Olfson (791210)
Catherine E. Cottrell (791211)
Nicholas O. Davidson (299538)
Christina A. Gurnett (364666)
Jonathan W. Heusel (420520)
Nathan O. Stitziel (606905)
Li-Shiun Chen (485568)
Sarah Hartz (791212)
Rakesh Nagarajan (46985)
Nancy L. Saccone (43965)
Laura J. Bierut (113583)

September 2015

<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...

Additional file 2: Table S2. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Katalin Komlosi (4801965)
Stefan Diederich (4801959)
Desiree Fend-Guella (4801962)
Oliver Bartsch (342921)
Jennifer Winter (87429)
Ulrich Zechner (212594)
Michael Beck (703654)
Peter Meyer (41793)
Susann Schweiger (87433)

January 2018

Additional variants in the couples. Additional file describing additional possibly pathogenic varian...

Additional file 1 of The role of exome sequencing in childhood interstitial or diffuse lung disease

Suzanna E. L. Temple (13770222)
Gladys Ho (12910481)
Bruce Bennetts (13770225)
Kirsten Boggs (13770228)
Nada Vidic (13770231)
David Mowat (3149994)
John Christodoulou (450398)
André Schultz (2549842)
Thet Gayagay (13770234)
Tony Roscioli (206558)
Ying Zhu (90057)
Sebastian Lunke (182250)
David Armstrong (109098)
Joanne Harrison (1261725)
Nitin Kapur (13770237)
Tim McDonald (13770240)
Hiran Selvadurai (13770243)
Andrew Tai (8499390)
Zornitza Stark (8128434)
Adam Jaffe (313619)

September 2022

Additional file 1. Table S1. Presenting clinical features of individuals found not to have clinicall...

Additional file 1: of Possible roles of genetic variations in chemotherapy related cardiotoxicity in pediatric acute lymphoblastic leukemia and osteosarcoma

Judit Sági (5480141)
Bálint Egyed (5480153)
Andrea Kelemen (5480144)
Nóra Kutszegi (442096)
Márta Hegyi (5480150)
András Gézsi (177724)
Martina Herlitschke (5480156)
Andrea Rzepiel (5480159)
Lili Fodor (5480162)
Gábor Ottóffy (5480147)
Gábor Kovács (398280)
Dániel Erdélyi (5480138)
Csaba Szalai (177763)
Ágnes Semsei (5480135)

July 2018

Information about the studied SNPs. Information on the selected SNPs is shown in an additional table...

Additional file 1: Table S1. of Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

Katalin Komlosi (4801965)
Stefan Diederich (4801959)
Desiree Fend-Guella (4801962)
Oliver Bartsch (342921)
Jennifer Winter (87429)
Ulrich Zechner (212594)
Michael Beck (703654)
Peter Meyer (41793)
Susann Schweiger (87433)

January 2018

List of the 430 genes investigated in the couples. Additional file listing the 430 genes for severe ...

Additional file 3: of Secondary findings in 421 whole exome-sequenced Chinese children

Wen Chen (30046)
Wenke Li (1702348)
Yi Ma (167857)
Yujing Zhang (385508)
Bianmei Han (5749973)
Xuewen Liu (4376128)
Kun Zhao (279513)
Meixian Zhang (563894)
Jie Mi (152887)
Yuanyuan Fu (510417)
Zhou Zhou (154603)

September 2018

Information on known pathogenic or expected pathogenic variants according to the ACMG reportable gen...

Brooke S. Staley
Laura V. Milko
Margaret Waltz
Ida Griesemer
Lonna Mollison
Tracey L. Grant
Laura Farnan
Myra Roche
Angelo Navas
Alexandra Lightfoot
Ann Katherine M. Foreman
Julianne M. O’Daniel
Suzanne C. O’Neill
Feng-Chang Lin
Tamara S. Roman
Alicia Brandt
Bradford C. Powell
Christine Rini
Jonathan S. Berg
Jeannette T. Bensen

June 2021

Abstract Background Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey...

Additional file 1: of Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Han Fang (3612260)
Yiyang Wu (3774247)
Hui Yang (91136)
Margaret Yoon (3774253)
Laura JimĂŠnez-BarrĂłn (3774259)
David Mittelman (329829)
Reid Robison (3774250)
Kai Wang (21246)
Gholson Lyon (3774244)

February 2017

Supplemental Tables and Figures. This file includes supplemental figures S1-S8, tables S1-S10, pharm...

Additional file 1: of Whole exome sequencing in three families segregating a pediatric case of sarcoidosis

Alain Calender (395231)
Pierre Rollat Farnier (4917229)
Adrien Buisson (4917238)
Stéphane Pinson (4917244)
Abderrazzaq Bentaher (3450752)
Serge Lebecque (4917241)
Harriet Corvol (313303)
Rola Abou Taam (4917232)
Véronique Houdouin (4917250)
Claire Bardel (91540)
Pascal Roy (2591074)
Gilles Devouassoux (441316)
Vincent Cottin (321742)
Pascal Seve (371214)
Jean-François Bernaudin (4389865)
Clarice Lim (4917247)
Thomas Weichhart (629857)
Dominique Valeyre (441804)
Yves Pacheco (3450761)
Annick Clement (4917226)
Nadia Nathan (4917235)

March 2018

Table S1. Recessive variants found in at least two affected children of different trios. Possibly pa...

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Green, Robert C.
Berg, Jonathan S.
Berry, Gerard T.
Biesecker, Leslie G.
Dimmock, David P.
Evans, James P.
Grody, Wayne W.
Hegde, Madhuri R.
Kalia, Sarah
Korf, Bruce R.
Krantz, Ian
McGuire, Amy L.
Miller, David T.
Murray, Michael F.
Nussbaum, Robert L.
Plon, Sharon E.
Rehm, Heidi L.
Jacob, Howard J.

January 2012

To explore specific conditions and types of genetic variants that specialists in genetics recommend ...

Recommendations for returning genomic incidental findings? We need to talk!

Burke, Wylie
Matheny Antommaria, Armand H.
Bennett, Robin
Botkin, Jeffrey
Clayton, Ellen Wright
Henderson, Gail E.
Holm, Ingrid A.
Jarvik, Gail P.
Khoury, Muin J.
Knoppers, Bartha Maria
Press, Nancy A.
Ross, Lainie Friedman
Rothstein, Mark A.
Saal, Howard
Uhlmann, Wendy R.
Wilfond, Benjamin
Wolf, Susan M.
Zimmern, Ron

January 2013

The American College of Medical Genetics and Genomics recently issued recommendations for reporting ...

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Berg, Jonathan S.
Amendola, Laura M.
Eng, Christine
Van Allen, Eliezer
Gray, Stacy W.
Wagle, Nikhil
Rehm, Heidi L.
DeChene, Elizabeth T.
Dulik, Matthew C.
Hisama, Fuki M.
Burke, Wylie
Spinner, Nancy B.
Garraway, Levi
Green, Robert C.
Plon, Sharon
Evans, James P.
Jarvik, Gail P.

January 2013

As genomic and exomic testing expands in both the research and clinical arenas, determining whether,...

Additional file 1 of Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

Abstract

Extracted data

Additional file 1 of Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

Abstract

Extracted data

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