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)

Publication date

September 2022

DOI

10.6084/m9.figshare.21077424.v1

Abstract

Additional file 1. Table S1. Presenting clinical features of individuals found not to have clinically significant variants

Extracted data

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Data Protection

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)

Open link

Publication date

September 2022

DOI

10.6084/m9.figshare.21077424.v1

Abstract

Additional file 1. Table S1. Presenting clinical features of individuals found not to have clinically significant variants

Extracted data

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 S2. Recessive variants shared by a common gene in at least two different trios. Possibly patho...

Additional file 4: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S4. Significant canonical pathways represented by unique variants in âaffectedâ subjects. ...

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Genetic tests performed during the diagnostic work-up of the study participants. (DOC 55 kb

Additional file 2 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 2. Table S2. chILDRANZ gene panel (see PanelApp Australia Childhood Interstitial Lun...

Additional file 7: Table S1. of Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

Shannon Bruse (3481571)
Michael Moreau (3481577)
Yana Bromberg (51423)
Jun-Ho Jang (748271)
Nan Wang (21935)
Hongseok Ha (3400535)
Maria Picchi (3481559)
Yong Lin (177139)
Raymond Langley (3481580)
Clifford Qualls (117765)
Julia Klensney-Tait (3481565)
Joseph Zabner (138271)
Shuguang Leng (173462)
Jenny Mao (3481568)
Steven Belinsky (3481562)
Jinchuan Xing (11012)
Toru Nyunoya (3481574)

January 2016

The information of Sanger sequencing validation for seven exonic variants of TACC2

Additional file 1: Table S1. of Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

Zรถe Powis (4064779)
Alexa Hart (4064770)
Sara Cherny (4064776)
Igor Petrik (4064782)
Erika Palmaer (4064785)
Sha Tang (267108)
Carolyn Jones (4064773)

June 2017

Run Metrics for family trio. Read depth values exclude the following: reads of low quality, reads th...

Additional file 4: 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

Figure S1. CADD scoring of prioritized variants versus other variants in the selected genes. (PDF 71...

Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Kerkhofs, Chantal H.
Keski-Filppula, Riikka
Van Zelst-Stams, Wendy A. G.
Hehir-Kwa, Jayne Y.
Alsaad, Alaa B.
Mensenkamp, Arjen R.
Hoischen, Alexander
Moilanen, Jukka
Hortillosa, Sarah
Zonneveld-Huijssoon, Evelien
Van Deuren, Marcel
Henriet, Stefanie S.
Bleeker-Rovers, Chantal P.
Gilissen, Christian
Stokowy, Tomasz
Hoppenreijs, Esther P.
Alzahrani, Mofareh S.
Veltman, Joris A.
Faqeih, Eissa A.
Lelieveld, Stefan H.
Van Der Flier, Michiel
Van Paassen, Pieter
Alenezi, Njood
Schuurs-Hoeijmakers, Janneke H. M.
Netea, Mihai G.
Van Well, Gijs T. J.
Gerkes, Erica
Vreeburg, Maaike
Al-Hussaini, Abdulrahman A.
Almanjomi, Fahad
Habazi, Murad K.
Ten Oever, Jaap
Andijani, Abdulrahman A.
Ballourah, Walid
Lone, Khurram
Aljubab, Hadeel A.
Arts, Peer
Simons, Annet
Alsaleem, Badr
MacKenzie, Marius A.
Alghamdi, Hamza A.
Wagner, Anja
Van De Veerdonk, Frank L.
Potjewijd, Judith
Nelen, Marcel
Zafeiropoulou, Dimitra
Van Aerde, Koen J.
Asery, Ali
Van De Vorst, Maartje
Alidrissi, Eman
Yilmaz, Elanur
Simon, Anna
Radboud University Nijmegen Medical Centre
University of Oulu

June 2019

Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients...

Additional file 5: of Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

Shannon Bruse (3481571)
Michael Moreau (3481577)
Yana Bromberg (51423)
Jun-Ho Jang (748271)
Nan Wang (21935)
Hongseok Ha (3400535)
Maria Picchi (3481559)
Yong Lin (177139)
Raymond Langley (3481580)
Clifford Qualls (117765)
Julia Klensney-Tait (3481565)
Joseph Zabner (138271)
Shuguang Leng (173462)
Jenny Mao (3481568)
Steven Belinsky (3481562)
Jinchuan Xing (11012)
Toru Nyunoya (3481574)

January 2016

Annotated variants for the 81 COPD candidate genes. Whole exome sequencing variants identified in th...

Additional file 1: of Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

Shannon Bruse (3481571)
Michael Moreau (3481577)
Yana Bromberg (51423)
Jun-Ho Jang (748271)
Nan Wang (21935)
Hongseok Ha (3400535)
Maria Picchi (3481559)
Yong Lin (177139)
Raymond Langley (3481580)
Clifford Qualls (117765)
Julia Klensney-Tait (3481565)
Joseph Zabner (138271)
Shuguang Leng (173462)
Jenny Mao (3481568)
Steven Belinsky (3481562)
Jinchuan Xing (11012)
Toru Nyunoya (3481574)

January 2016

COPD candidate genes prioritized by the VAAST analysis. Results from different VAAST run settings (T...

Additional file 9: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S9. Significant canonical pathways represented by unique variants in âaffectedâ subjects f...

Additional file 3: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S3. Significant canonical pathways represented by common variants associated with BPD. (DOCX 3...

Additional file 5: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S5. Significant canonical pathways represented by unique variants in âunaffectedâ subjects...

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)

November 2022

Additional file 1: Table S1. Incidental genetic findings identified across four study sites conducti...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Additional file 2: 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 S2. Recessive variants shared by a common gene in at least two different trios. Possibly patho...

Additional file 4: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S4. Significant canonical pathways represented by unique variants in âaffectedâ subjects. ...

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Genetic tests performed during the diagnostic work-up of the study participants. (DOC 55 kb

Additional file 2 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 2. Table S2. chILDRANZ gene panel (see PanelApp Australia Childhood Interstitial Lun...

Additional file 7: Table S1. of Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

Shannon Bruse (3481571)
Michael Moreau (3481577)
Yana Bromberg (51423)
Jun-Ho Jang (748271)
Nan Wang (21935)
Hongseok Ha (3400535)
Maria Picchi (3481559)
Yong Lin (177139)
Raymond Langley (3481580)
Clifford Qualls (117765)
Julia Klensney-Tait (3481565)
Joseph Zabner (138271)
Shuguang Leng (173462)
Jenny Mao (3481568)
Steven Belinsky (3481562)
Jinchuan Xing (11012)
Toru Nyunoya (3481574)

January 2016

The information of Sanger sequencing validation for seven exonic variants of TACC2

Zรถe Powis (4064779)
Alexa Hart (4064770)
Sara Cherny (4064776)
Igor Petrik (4064782)
Erika Palmaer (4064785)
Sha Tang (267108)
Carolyn Jones (4064773)

June 2017

Run Metrics for family trio. Read depth values exclude the following: reads of low quality, reads th...

Additional file 4: 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

Figure S1. CADD scoring of prioritized variants versus other variants in the selected genes. (PDF 71...

Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Kerkhofs, Chantal H.
Keski-Filppula, Riikka
Van Zelst-Stams, Wendy A. G.
Hehir-Kwa, Jayne Y.
Alsaad, Alaa B.
Mensenkamp, Arjen R.
Hoischen, Alexander
Moilanen, Jukka
Hortillosa, Sarah
Zonneveld-Huijssoon, Evelien
Van Deuren, Marcel
Henriet, Stefanie S.
Bleeker-Rovers, Chantal P.
Gilissen, Christian
Stokowy, Tomasz
Hoppenreijs, Esther P.
Alzahrani, Mofareh S.
Veltman, Joris A.
Faqeih, Eissa A.
Lelieveld, Stefan H.
Van Der Flier, Michiel
Van Paassen, Pieter
Alenezi, Njood
Schuurs-Hoeijmakers, Janneke H. M.
Netea, Mihai G.
Van Well, Gijs T. J.
Gerkes, Erica
Vreeburg, Maaike
Al-Hussaini, Abdulrahman A.
Almanjomi, Fahad
Habazi, Murad K.
Ten Oever, Jaap
Andijani, Abdulrahman A.
Ballourah, Walid
Lone, Khurram
Aljubab, Hadeel A.
Arts, Peer
Simons, Annet
Alsaleem, Badr
MacKenzie, Marius A.
Alghamdi, Hamza A.
Wagner, Anja
Van De Veerdonk, Frank L.
Potjewijd, Judith
Nelen, Marcel
Zafeiropoulou, Dimitra
Van Aerde, Koen J.
Asery, Ali
Van De Vorst, Maartje
Alidrissi, Eman
Yilmaz, Elanur
Simon, Anna
Radboud University Nijmegen Medical Centre
University of Oulu

June 2019

Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients...

Additional file 5: of Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

Shannon Bruse (3481571)
Michael Moreau (3481577)
Yana Bromberg (51423)
Jun-Ho Jang (748271)
Nan Wang (21935)
Hongseok Ha (3400535)
Maria Picchi (3481559)
Yong Lin (177139)
Raymond Langley (3481580)
Clifford Qualls (117765)
Julia Klensney-Tait (3481565)
Joseph Zabner (138271)
Shuguang Leng (173462)
Jenny Mao (3481568)
Steven Belinsky (3481562)
Jinchuan Xing (11012)
Toru Nyunoya (3481574)

January 2016

Annotated variants for the 81 COPD candidate genes. Whole exome sequencing variants identified in th...

Additional file 1: of Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility

Shannon Bruse (3481571)
Michael Moreau (3481577)
Yana Bromberg (51423)
Jun-Ho Jang (748271)
Nan Wang (21935)
Hongseok Ha (3400535)
Maria Picchi (3481559)
Yong Lin (177139)
Raymond Langley (3481580)
Clifford Qualls (117765)
Julia Klensney-Tait (3481565)
Joseph Zabner (138271)
Shuguang Leng (173462)
Jenny Mao (3481568)
Steven Belinsky (3481562)
Jinchuan Xing (11012)
Toru Nyunoya (3481574)

January 2016

COPD candidate genes prioritized by the VAAST analysis. Results from different VAAST run settings (T...

Additional file 9: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S9. Significant canonical pathways represented by unique variants in âaffectedâ subjects f...

Additional file 3: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S3. Significant canonical pathways represented by common variants associated with BPD. (DOCX 3...

Additional file 5: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S5. Significant canonical pathways represented by unique variants in âunaffectedâ subjects...

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)

November 2022

Additional file 1: Table S1. Incidental genetic findings identified across four study sites conducti...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Additional file 2: 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 S2. Recessive variants shared by a common gene in at least two different trios. Possibly patho...

Additional file 4: of Exome sequencing identifies gene variants and networks associated with extreme respiratory outcomes following preterm birth

Aaron Hamvas (2312002)
Rui Feng (186408)
Yingtao Bi (208237)
Fan Wang (135182)
Soumyaroop Bhattacharya (11666)
Jared Mereness (5876531)
Madhurima Kaushal (5876534)
C Cotten (5876537)
Philip Ballard (5876540)
Thomas Mariani (4676728)

October 2018

Table S4. Significant canonical pathways represented by unique variants in âaffectedâ subjects. ...

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Genetic tests performed during the diagnostic work-up of the study participants. (DOC 55 kb

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

Abstract

Extracted data

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

Abstract

Extracted data

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