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

Additional file 2: of Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis-Juan (6062420)
Jonathan Stephens (108261)
Courtney French (6062423)
Nicholas Gleadall (6062426)
Karyn MĂŠgy (6062429)
Christopher Penkett (6062432)
Olga Shamardina (6062435)
Kathleen Stirrups (145729)
Isabelle Delon (6062438)
Eleanor Dewhurst (6062441)
Helen Dolling (6062444)
Marie Erwood (6062447)
Detelina Grozeva (4799844)
Luca Stefanucci (6062450)
Gavin Arno (4611343)
Andrew Webster (3471632)
Trevor Cole (547049)
Topun Austin (3854044)
Ricardo Branco (6062459)
Willem Ouwehand (269630)
F. Lucy Raymond (6062462)
Keren Carss (6062465)

December 2018

Table S1. List of genes present in P1, P2, P3 and P4 cxSVs). Table S2. Complex SVs breakpoint detail...

Additional file 2 of Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Eden V. Haverfield (11287683)
Edward D. Esplin (11287686)
Sienna J. Aguilar (11287689)
Kathryn E. Hatchell (11287692)
Kelly E. Ormond (10515112)
Andrea Hanson-Kahn (11287695)
Paldeep S. Atwal (8791685)
Sarah Macklin-Mantia (11287698)
Stephanie Hines (9387319)
Caron W.-M. Sak (11287701)
Steven Tucker (11287704)
Steven B. Bleyl (11287707)
Peter J. Hulick (3147177)
Ora K. Gordon (11287710)
Lea Velsher (5520257)
Jessica Y. J. Gu (11287713)
Scott M. Weissman (11287716)
Teresa Kruisselbrink (11287719)
Christopher Abel (11287722)
Michele Kettles (11287725)
Anne Slavotinek (78604)
Bryce A. Mendelsohn (5688410)
Robert C. Green (5586524)
Swaroop Aradhya (10753866)
Robert L. Nussbaum (11287728)

August 2021

Additional file 2: Table S2. Clinically significant variants detected in this patient cohort

Additional file 6: of Genome-wide analysis of genetic predisposition to Alzheimerâs disease and related sex disparities

Alireza Nazarian (138539)
Anatoliy Yashin (3777034)
Alexander Kulminski (6203162)

January 2019

Detailed information about the results from the Wald Ď2 test to compare ORs of SNPs between males a...

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 Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Bo Yuan (26238)
Katharina V. Schulze (11861022)
Nurit Assia Batzir (13891155)
Jefferson Sinson (13891158)
Hongzheng Dai (223656)
Wenmiao Zhu (6413252)
Francia Bocanegra (13891161)
Chin-To Fong (13891164)
Jimmy Holder (13891167)
Joanne Nguyen (6733898)
Christian P. Schaaf (9538211)
Yaping Yang (292220)
Weimin Bi (162353)
Christine Eng (2633299)
Chad Shaw (163990)
James R. Lupski (8028356)
Pengfei Liu (13891170)

September 2022

Additional file 1: Table S1. All clinically reported recurrent deletions and their prevalence estima...

Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Eggers, Stefanie
Sadedin, Simon
van den Bergen, Jocelyn A.
Robevska, Gorjana
Ohnesorg, Thomas
Hewitt, Jacqueline
Lambeth, Luke
Bouty, Aurore
Knarston, Ingrid M.
Tan, Tiong Yang
Cameron, Fergus
Werther, George
Hutson, John
O'Connell, Michele
Grover, Sonia R.
Heloury, Yves
Zacharin, Margaret
Bergman, Philip
Kimber, Chris
Brown, Justin
Webb, Nathalie
Hunter, Matthew F.
Srinivasan, Shubha
Titmuss, Angela
Verge, Charles F.
Mowat, David
Smith, Grahame
Smith, Janine
Ewans, Lisa
Shalhoub, Carolyn
Crock, Patricia
Cowell, Chris
Leong, GaryM.
Ono, Makato
Lafferty, Antony R.
Huynh, Tony
Visser, Uma
Choong, Catherine S.
McKenzie, Fiona
Pachter, Nicholas
Thompson, Elizabeth M.
Couper, Jennifer
Baxendale, Anne
Gecz, Jozef
Wheeler, Benjamin J.
Jefferies, Craig
MacKenzie, Karen
Hofman, Paul
Carter, Philippa
King, Richard I.
Krausz, Csilla
van Ravenswaaij-Arts, Conny M.A.
Looijenga, Leendert
Drop, Sten
Riedl, Stefan
Cools, Martine
Dawson, Angelika
Juniarto, Achmad Zulfa
Khadilkar, Vaman
Khadilkar, Anuradha
Bhatia, Vijayalakshmi
Dũng, Vũ Chí
Atta, Irum
Raza, Jamal
thi Diem Chi, Nguyen
Hao, Tran Kiem
Harley, Vincent
Koopman, Peter
Warne, Garry
Faradz, Sultana
Oshlack, Alicia
Ayers, Katie L.
Sinclair, Andrew H.
University of Groningen
Clinical Cognitive Neuropsychiatry Research Program (CCNP)
Victorian Clinical Genetic Services
Murdoch Childrens Research Institute
University of Melbourne
Monash Children's Hospital
The Royal Children's Hospital Melbourne
Monash Medical Centre
Monash University
Monash Genetics, Monash Health
The Children's Hospital at Westmead
Bioanalytical Mass Spectrometry, University of New South Wales
Sydney Children's Hospital
University of Sydney
Royal Prince Alfred Hospital
John Hunter Children's Hospital
Lady Cilento Children's Hospital
Tokyo Bay Medical Centre, Department of Paediatrics
ANU Medical School
Centenary Hospital for Women and Children
University of Western Australia
Princess Margaret Hospital for Children
King Edward Memorial Hospital
The University of Adelaide
Women's and Children's Hospital Adelaide
Univ. of Adelaide
South Australian Health and Medical Research Institute
University of Otago
Diabetes and Endocrinology, Auckland District Health Board
Christchurch Hospital
The University of Auckland
Starship Paediatric Diabetes and Endocrinology
Canterbury Health Laboratories
University of Florence
Erasmus University Medical Center
University Medical Center Rotterdam
St Anna Children's Hospital
Medical University of Vienna
Ghent University Hospital
University of Manitoba
Genomic Laboratory, Diagnostic Services of Manitoba and Genetics and Metabolism Program, WRHA
Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU)
Hirabai Cowasji Jehangir Medical Research Institute
Department of Endocrinology Sanjay Gandhi PGI
Metabolism and Genetics National Children's Hospital
National Institute of Child Health
Hue Central Hospital
Hudson Institute of Medical Research
University of Queensland

January 2016

DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process...

Additional file 1: of Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

Elysa Marco (5290844)
Anne Aitken (5290841)
Vishnu Nair (5290850)
Gilberto da Gente (5290859)
Molly Gerdes (5290856)
Leyla Bologlu (5290847)
Sean Thomas (75243)
Elliott Sherr (5290853)

May 2018

High- Probability Risk ASD Gene Set. Table of seventy-six genes from AutDB determined to be âproba...

Additional file 2: Table S1. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Farah Zahir (4046030)
Jill Mwenifumbo (4046024)
Hye-Jung Chun (4046027)
Emilia Lim (4046039)
Clara Van Karnebeek (3492818)
Madeline Couse (3385817)
Karen Mungall (66994)
Leora Lee (3214851)
Nancy Makela (4046018)
Linlea Armstrong (4046036)
Cornelius Boerkoel (137810)
Sylvie Langlois (3513848)
Barbara McGillivray (4046033)
Steven Jones (18297)
Jan Friedman (4046021)
Marco Marra (24240)

May 2017

Test of relatedness - Table showing relatedness for each trio by comparing SNP concordance between c...

Additional file 1: of Pancreatic cancer as a sentinel for hereditary cancer predisposition

Erin Young (5454515)
Bryony Thompson (5454527)
Deborah Neklason (5454509)
Matthew Firpo (5454512)
Theresa Werner (5454542)
Russell Bell (4539349)
Justin Berger (272454)
Alison Fraser (5454530)
Amanda Gammon (5454539)
Cathryn Koptiuch (5454518)
Wendy Kohlmann (5454536)
Leigh Neumayer (5454533)
David Goldgar (29053)
Sean Mulvihill (5454524)
Lisa Cannon-Albright (523061)
Sean Tavtigian (5454521)

June 2018

Table S1. contains the list of the genes used in the study, as well as indicators for which pathway ...

Additional file 1: Table S1. of Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits

Jennifer Pavlides (3449879)
Zhihong Zhu (227325)
Jacob Gratten (3300798)
Allan McRae (3400103)
Naomi Wray (3449882)
Jian Yang (12136)

August 2016

GWAS information. Table S2. SMR results (P SMR <8.4 × 10–6). Table S3. SMR and HEIDI results (P HEID...

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 Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Jonas Henn (6258308)
Isabel Spier (4632118)
Ronja S. Adam (6258311)
Stefanie Holzapfel (6258314)
Siegfried Uhlhaas (6258317)
Katrin Kayser (6258320)
Guido Plotz (22851)
Sophia Peters (4632115)
Stefan Aretz (4632109)

January 2019

Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...

Additional file 2: of Genome-wide analysis of genetic predisposition to Alzheimerâs disease and related sex disparities

Alireza Nazarian (138539)
Anatoliy Yashin (3777034)
Alexander Kulminski (6203162)

January 2019

Detailed information about the AD-associated SNPs under analysis plan 1 (males and females).Â (XLSX ...

Additional file 2: of Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

Elysa Marco (5290844)
Anne Aitken (5290841)
Vishnu Nair (5290850)
Gilberto da Gente (5290859)
Molly Gerdes (5290856)
Leyla Bologlu (5290847)
Sean Thomas (75243)
Elliott Sherr (5290853)

May 2018

Moderate- Probability Risk ASD Gene Set. Table of 292 genes from AutDB categorized as possibly damag...

Additional file 1: Table S1. of Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Carla DâAngelo (4823349)
Monica Varela (4823334)
Claudia de Castro (4823340)
Paulo Otto (3505370)
Ana Perez (4823337)
Charles LourenĂ§o (4823346)
Chong Kim (3411230)
Debora Bertola (206523)
Fernando Kok (3505364)
Luis Garcia-Alonso (152388)
Celia Koiffmann (4823343)

February 2018

Full description of clinical findings in patients enrolled in this study. (XLSX 71 kb

Additional file 2: of Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis-Juan (6062420)
Jonathan Stephens (108261)
Courtney French (6062423)
Nicholas Gleadall (6062426)
Karyn MĂŠgy (6062429)
Christopher Penkett (6062432)
Olga Shamardina (6062435)
Kathleen Stirrups (145729)
Isabelle Delon (6062438)
Eleanor Dewhurst (6062441)
Helen Dolling (6062444)
Marie Erwood (6062447)
Detelina Grozeva (4799844)
Luca Stefanucci (6062450)
Gavin Arno (4611343)
Andrew Webster (3471632)
Trevor Cole (547049)
Topun Austin (3854044)
Ricardo Branco (6062459)
Willem Ouwehand (269630)
F. Lucy Raymond (6062462)
Keren Carss (6062465)

December 2018

Table S1. List of genes present in P1, P2, P3 and P4 cxSVs). Table S2. Complex SVs breakpoint detail...

Additional file 2 of Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Eden V. Haverfield (11287683)
Edward D. Esplin (11287686)
Sienna J. Aguilar (11287689)
Kathryn E. Hatchell (11287692)
Kelly E. Ormond (10515112)
Andrea Hanson-Kahn (11287695)
Paldeep S. Atwal (8791685)
Sarah Macklin-Mantia (11287698)
Stephanie Hines (9387319)
Caron W.-M. Sak (11287701)
Steven Tucker (11287704)
Steven B. Bleyl (11287707)
Peter J. Hulick (3147177)
Ora K. Gordon (11287710)
Lea Velsher (5520257)
Jessica Y. J. Gu (11287713)
Scott M. Weissman (11287716)
Teresa Kruisselbrink (11287719)
Christopher Abel (11287722)
Michele Kettles (11287725)
Anne Slavotinek (78604)
Bryce A. Mendelsohn (5688410)
Robert C. Green (5586524)
Swaroop Aradhya (10753866)
Robert L. Nussbaum (11287728)

August 2021

Additional file 2: Table S2. Clinically significant variants detected in this patient cohort

Additional file 6: of Genome-wide analysis of genetic predisposition to Alzheimerâs disease and related sex disparities

Alireza Nazarian (138539)
Anatoliy Yashin (3777034)
Alexander Kulminski (6203162)

January 2019

Detailed information about the results from the Wald Ď2 test to compare ORs of SNPs between males a...

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 Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Bo Yuan (26238)
Katharina V. Schulze (11861022)
Nurit Assia Batzir (13891155)
Jefferson Sinson (13891158)
Hongzheng Dai (223656)
Wenmiao Zhu (6413252)
Francia Bocanegra (13891161)
Chin-To Fong (13891164)
Jimmy Holder (13891167)
Joanne Nguyen (6733898)
Christian P. Schaaf (9538211)
Yaping Yang (292220)
Weimin Bi (162353)
Christine Eng (2633299)
Chad Shaw (163990)
James R. Lupski (8028356)
Pengfei Liu (13891170)

September 2022

Additional file 1: Table S1. All clinically reported recurrent deletions and their prevalence estima...

Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Eggers, Stefanie
Sadedin, Simon
van den Bergen, Jocelyn A.
Robevska, Gorjana
Ohnesorg, Thomas
Hewitt, Jacqueline
Lambeth, Luke
Bouty, Aurore
Knarston, Ingrid M.
Tan, Tiong Yang
Cameron, Fergus
Werther, George
Hutson, John
O'Connell, Michele
Grover, Sonia R.
Heloury, Yves
Zacharin, Margaret
Bergman, Philip
Kimber, Chris
Brown, Justin
Webb, Nathalie
Hunter, Matthew F.
Srinivasan, Shubha
Titmuss, Angela
Verge, Charles F.
Mowat, David
Smith, Grahame
Smith, Janine
Ewans, Lisa
Shalhoub, Carolyn
Crock, Patricia
Cowell, Chris
Leong, GaryM.
Ono, Makato
Lafferty, Antony R.
Huynh, Tony
Visser, Uma
Choong, Catherine S.
McKenzie, Fiona
Pachter, Nicholas
Thompson, Elizabeth M.
Couper, Jennifer
Baxendale, Anne
Gecz, Jozef
Wheeler, Benjamin J.
Jefferies, Craig
MacKenzie, Karen
Hofman, Paul
Carter, Philippa
King, Richard I.
Krausz, Csilla
van Ravenswaaij-Arts, Conny M.A.
Looijenga, Leendert
Drop, Sten
Riedl, Stefan
Cools, Martine
Dawson, Angelika
Juniarto, Achmad Zulfa
Khadilkar, Vaman
Khadilkar, Anuradha
Bhatia, Vijayalakshmi
Dũng, Vũ Chí
Atta, Irum
Raza, Jamal
thi Diem Chi, Nguyen
Hao, Tran Kiem
Harley, Vincent
Koopman, Peter
Warne, Garry
Faradz, Sultana
Oshlack, Alicia
Ayers, Katie L.
Sinclair, Andrew H.
University of Groningen
Clinical Cognitive Neuropsychiatry Research Program (CCNP)
Victorian Clinical Genetic Services
Murdoch Childrens Research Institute
University of Melbourne
Monash Children's Hospital
The Royal Children's Hospital Melbourne
Monash Medical Centre
Monash University
Monash Genetics, Monash Health
The Children's Hospital at Westmead
Bioanalytical Mass Spectrometry, University of New South Wales
Sydney Children's Hospital
University of Sydney
Royal Prince Alfred Hospital
John Hunter Children's Hospital
Lady Cilento Children's Hospital
Tokyo Bay Medical Centre, Department of Paediatrics
ANU Medical School
Centenary Hospital for Women and Children
University of Western Australia
Princess Margaret Hospital for Children
King Edward Memorial Hospital
The University of Adelaide
Women's and Children's Hospital Adelaide
Univ. of Adelaide
South Australian Health and Medical Research Institute
University of Otago
Diabetes and Endocrinology, Auckland District Health Board
Christchurch Hospital
The University of Auckland
Starship Paediatric Diabetes and Endocrinology
Canterbury Health Laboratories
University of Florence
Erasmus University Medical Center
University Medical Center Rotterdam
St Anna Children's Hospital
Medical University of Vienna
Ghent University Hospital
University of Manitoba
Genomic Laboratory, Diagnostic Services of Manitoba and Genetics and Metabolism Program, WRHA
Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU)
Hirabai Cowasji Jehangir Medical Research Institute
Department of Endocrinology Sanjay Gandhi PGI
Metabolism and Genetics National Children's Hospital
National Institute of Child Health
Hue Central Hospital
Hudson Institute of Medical Research
University of Queensland

January 2016

DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process...

Additional file 1: of Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

Elysa Marco (5290844)
Anne Aitken (5290841)
Vishnu Nair (5290850)
Gilberto da Gente (5290859)
Molly Gerdes (5290856)
Leyla Bologlu (5290847)
Sean Thomas (75243)
Elliott Sherr (5290853)

May 2018

High- Probability Risk ASD Gene Set. Table of seventy-six genes from AutDB determined to be âproba...

Additional file 2: Table S1. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Farah Zahir (4046030)
Jill Mwenifumbo (4046024)
Hye-Jung Chun (4046027)
Emilia Lim (4046039)
Clara Van Karnebeek (3492818)
Madeline Couse (3385817)
Karen Mungall (66994)
Leora Lee (3214851)
Nancy Makela (4046018)
Linlea Armstrong (4046036)
Cornelius Boerkoel (137810)
Sylvie Langlois (3513848)
Barbara McGillivray (4046033)
Steven Jones (18297)
Jan Friedman (4046021)
Marco Marra (24240)

May 2017

Test of relatedness - Table showing relatedness for each trio by comparing SNP concordance between c...

Additional file 1: of Pancreatic cancer as a sentinel for hereditary cancer predisposition

Erin Young (5454515)
Bryony Thompson (5454527)
Deborah Neklason (5454509)
Matthew Firpo (5454512)
Theresa Werner (5454542)
Russell Bell (4539349)
Justin Berger (272454)
Alison Fraser (5454530)
Amanda Gammon (5454539)
Cathryn Koptiuch (5454518)
Wendy Kohlmann (5454536)
Leigh Neumayer (5454533)
David Goldgar (29053)
Sean Mulvihill (5454524)
Lisa Cannon-Albright (523061)
Sean Tavtigian (5454521)

June 2018

Table S1. contains the list of the genes used in the study, as well as indicators for which pathway ...

Additional file 1: Table S1. of Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits

Jennifer Pavlides (3449879)
Zhihong Zhu (227325)
Jacob Gratten (3300798)
Allan McRae (3400103)
Naomi Wray (3449882)
Jian Yang (12136)

August 2016

GWAS information. Table S2. SMR results (P SMR <8.4 × 10–6). Table S3. SMR and HEIDI results (P HEID...

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 Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

Jonas Henn (6258308)
Isabel Spier (4632118)
Ronja S. Adam (6258311)
Stefanie Holzapfel (6258314)
Siegfried Uhlhaas (6258317)
Katrin Kayser (6258320)
Guido Plotz (22851)
Sophia Peters (4632115)
Stefan Aretz (4632109)

January 2019

Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...

Additional file 2: of Genome-wide analysis of genetic predisposition to Alzheimerâs disease and related sex disparities

Alireza Nazarian (138539)
Anatoliy Yashin (3777034)
Alexander Kulminski (6203162)

January 2019

Detailed information about the AD-associated SNPs under analysis plan 1 (males and females).Â (XLSX ...

Additional file 2: of Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

Elysa Marco (5290844)
Anne Aitken (5290841)
Vishnu Nair (5290850)
Gilberto da Gente (5290859)
Molly Gerdes (5290856)
Leyla Bologlu (5290847)
Sean Thomas (75243)
Elliott Sherr (5290853)

May 2018

Moderate- Probability Risk ASD Gene Set. Table of 292 genes from AutDB categorized as possibly damag...

Additional file 1: Table S1. of Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Carla DâAngelo (4823349)
Monica Varela (4823334)
Claudia de Castro (4823340)
Paulo Otto (3505370)
Ana Perez (4823337)
Charles LourenĂ§o (4823346)
Chong Kim (3411230)
Debora Bertola (206523)
Fernando Kok (3505364)
Luis Garcia-Alonso (152388)
Celia Koiffmann (4823343)

February 2018

Full description of clinical findings in patients enrolled in this study. (XLSX 71 kb

Additional file 2: of Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis-Juan (6062420)
Jonathan Stephens (108261)
Courtney French (6062423)
Nicholas Gleadall (6062426)
Karyn MĂŠgy (6062429)
Christopher Penkett (6062432)
Olga Shamardina (6062435)
Kathleen Stirrups (145729)
Isabelle Delon (6062438)
Eleanor Dewhurst (6062441)
Helen Dolling (6062444)
Marie Erwood (6062447)
Detelina Grozeva (4799844)
Luca Stefanucci (6062450)
Gavin Arno (4611343)
Andrew Webster (3471632)
Trevor Cole (547049)
Topun Austin (3854044)
Ricardo Branco (6062459)
Willem Ouwehand (269630)
F. Lucy Raymond (6062462)
Keren Carss (6062465)

December 2018

Table S1. List of genes present in P1, P2, P3 and P4 cxSVs). Table S2. Complex SVs breakpoint detail...

Additional file 2 of Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Eden V. Haverfield (11287683)
Edward D. Esplin (11287686)
Sienna J. Aguilar (11287689)
Kathryn E. Hatchell (11287692)
Kelly E. Ormond (10515112)
Andrea Hanson-Kahn (11287695)
Paldeep S. Atwal (8791685)
Sarah Macklin-Mantia (11287698)
Stephanie Hines (9387319)
Caron W.-M. Sak (11287701)
Steven Tucker (11287704)
Steven B. Bleyl (11287707)
Peter J. Hulick (3147177)
Ora K. Gordon (11287710)
Lea Velsher (5520257)
Jessica Y. J. Gu (11287713)
Scott M. Weissman (11287716)
Teresa Kruisselbrink (11287719)
Christopher Abel (11287722)
Michele Kettles (11287725)
Anne Slavotinek (78604)
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Additional file 2: Table S2. Clinically significant variants detected in this patient cohort

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Detailed information about the results from the Wald Ď2 test to compare ORs of SNPs between males a...

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

Abstract

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