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Research | 26 November 2020 | Open
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- Sacha Ferdinandusse
- , Kirsty McWalter
- , Heleen te Brinke
- , Lodewijk IJlst
- , Petra M. Mooijer
- , Jos P. N. Ruiter
- , Alida E. M. van Lint
- , Mia Pras-Raves
- , Eric Wever
- , Francisca Millan
- , Maria J. Guillen Sacoto
- , Amber Begtrup
- , Mark Tarnopolsky
- , Lauren Brady
- , Roger L. Ladda
- , Susan L. Sell
- , Catherine B. Nowak
- , Jessica Douglas
- , Cuixia Tian
- , Elizabeth Ulm
- , Seth Perlman
- , Arlene V. Drack
- , Karen Chong
- , Nicole Martin
- , Jennifer Brault
- , Elly Brokamp
- , Camilo Toro
- , William A. Gahl
- , Ellen F. Macnamara
- , Lynne Wolfe
- , Mercedes E. Alejandro
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Lindsay C. Burrage
- , Hsiao-Tuan Chao
- , Gary D. Clark
- , William J. Craigen
- , Hongzheng Dai
- , Shweta U. Dhar
- , Lisa T. Emrick
- , Alica M. Goldman
- , Neil A. Hanchard
- , Fariha Jamal
- , Lefkothea Karaviti
- , Seema R. Lalani
- , Brendan H. Lee
- , Richard A. Lewis
- , Ronit Marom
- , Paolo M. Moretti
- , David R. Murdock
- , Sarah K. Nicholas
- , James P. Orengo
- , Jennifer E. Posey
- , Lorraine Potocki
- , Jill A. Rosenfeld
- , Susan L. Samson
- , Daryl A. Scott
- , Alyssa A. Tran
- , Tiphanie P. Vogel
- , Michael F. Wangler
- , Shinya Yamamoto
- , Christine M. Eng
- , Pengfei Liu
- , Patricia A. Ward
- , Edward Behrens
- , Matthew Deardorff
- , Marni Falk
- , Kelly Hassey
- , Kathleen Sullivan
- , Adeline Vanderver
- , David B. Goldstein
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Kelly Schoch
- , Vandana Shashi
- , Edward C. Smith
- , Rebecca C. Spillmann
- , Jennifer A. Sullivan
- , Queenie K.-G. Tan
- , Nicole M. Walley
- , Pankaj B. Agrawal
- , Alan H. Beggs
- , Gerard T. Berry
- , Lauren C. Briere
- , Laurel A. Cobban
- , Matthew Coggins
- , Cynthia M. Cooper
- , Elizabeth L. Fieg
- , Frances High
- , Ingrid A. Holm
- , Susan Korrick
- , Joel B. Krier
- , Sharyn A. Lincoln
- , Joseph Loscalzo
- , Richard L. Maas
- , Calum A. MacRae
- , J. Carl Pallais
- , Deepak A. Rao
- , Lance H. Rodan
- , Edwin K. Silverman
- , Joan M. Stoler
- , David A. Sweetser
- , Melissa Walker
- , Chris A. Walsh
- , Cecilia Esteves
- , Emily G. Kelley
- , Isaac S. Kohane
- , Kimberly LeBlanc
- , Alexa T. McCray
- , Anna Nagy
- , Surendra Dasari
- , Brendan C. Lanpher
- , Ian R. Lanza
- , Eva Morava
- , Devin Oglesbee
- , Guney Bademci
- , Deborah Barbouth
- , Stephanie Bivona
- , Olveen Carrasquillo
- , Ta Chen Peter Chang
- , Irman Forghani
- , Alana Grajewski
- , Rosario Isasi
- , Byron Lam
- , Roy Levitt
- , Xue Zhong Liu
- , Jacob McCauley
- , Ralph Sacco
- , Mario Saporta
- , Judy Schaechter
- , Mustafa Tekin
- , Fred Telischi
- , Willa Thorson
- , Stephan Zuchner
- , Heather A. Colley
- , Jyoti G. Dayal
- , David J. Eckstein
- , Laurie C. Findley
- , Donna M. Krasnewich
- , Laura A. Mamounas
- , Teri A. Manolio
- , John J. Mulvihill
- , Grace L. LaMoure
- , Madison P. Goldrich
- , Tiina K. Urv
- , Argenia L. Doss
- , Maria T. Acosta
- , Carsten Bonnenmann
- , Precilla D’Souza
- , David D. Draper
- , Carlos Ferreira
- , Rena A. Godfrey
- , Catherine A. Groden
- , Ellen F. Macnamara
- , Valerie V. Maduro
- , Thomas C. Markello
- , Avi Nath
- , Donna Novacic
- , Barbara N. Pusey
- , Camilo Toro
- , Colleen E. Wahl
- , Eva Baker
- , Elizabeth A. Burke
- , David R. Adams
- , William A. Gahl
- , May Christine V. Malicdan
- , Cynthia J. Tifft
- , Lynne A. Wolfe
- , John Yang
- , Bradley Power
- , Bernadette Gochuico
- , Laryssa Huryn
- , Lea Latham
- , Joie Davis
- , Deborah Mosbrook-Davis
- , Francis Rossignol
- , Ben Solomon
- , John MacDowall
- , Audrey Thurm
- , Wadih Zein
- , Muhammad Yousef
- , Margaret Adam
- , Laura Amendola
- , Michael Bamshad
- , Anita Beck
- , Jimmy Bennett
- , Beverly Berg-Rood
- , Elizabeth Blue
- , Brenna Boyd
- , Peter Byers
- , Sirisak Chanprasert
- , Michael Cunningham
- , Katrina Dipple
- , Daniel Doherty
- , Dawn Earl
- , Ian Glass
- , Katie Golden-Grant
- , Sihoun Hahn
- , Anne Hing
- , Fuki M. Hisama
- , Martha Horike-Pyne
- , Gail P. Jarvik
- , Jeffrey Jarvik
- , Suman Jayadev
- , Christina Lam
- , Kenneth Maravilla
- , Heather Mefford
- , J. Lawrence Merritt
- , Ghayda Mirzaa
- , Deborah Nickerson
- , Wendy Raskind
- , Natalie Rosenwasser
- , C. Ron Scott
- , Angela Sun
- , Virginia Sybert
- , Stephanie Wallace
- , Mark Wener
- , Tara Wenger
- , Euan A. Ashley
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Devon Bonner
- , Terra R. Coakley
- , Liliana Fernandez
- , Paul G. Fisher
- , Laure Fresard
- , Jason Hom
- , Yong Huang
- , Jennefer N. Kohler
- , Elijah Kravets
- , Marta M. Majcherska
- , Beth A. Martin
- , Shruti Marwaha
- , Colleen E. McCormack
- , Archana N. Raja
- , Chloe M. Reuter
- , Maura Ruzhnikov
- , Jacinda B. Sampson
- , Kevin S. Smith
- , Shirley Sutton
- , Holly K. Tabor
- , Brianna M. Tucker
- , Matthew T. Wheeler
- , Diane B. Zastrow
- , Chunli Zhao
- , William E. Byrd
- , Andrew B. Crouse
- , Matthew Might
- , Mariko Nakano-Okuno
- , Jordan Whitlock
- , Gabrielle Brown
- , Manish J. Butte
- , Esteban C. Dell’Angelica
- , Naghmeh Dorrani
- , Emilie D. Douine
- , Brent L. Fogel
- , Irma Gutierrez
- , Alden Huang
- , Deborah Krakow
- , Hane Lee
- , Sandra K. Loo
- , Bryan C. Mak
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Elisabeth McGee
- , Stanley F. Nelson
- , Shirley Nieves-Rodriguez
- , Christina G. S. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Genecee Renteria
- , Rebecca H. Signer
- , Janet S. Sinsheimer
- , Jijun Wan
- , Lee-kai Wang
- , Katherine Wesseling Perry
- , Jeremy D. Woods
- , Justin Alvey
- , Ashley Andrews
- , Jim Bale
- , John Bohnsack
- , Lorenzo Botto
- , John Carey
- , Laura Pace
- , Nicola Longo
- , Gabor Marth
- , Paolo Moretti
- , Aaron Quinlan
- , Matt Velinder
- , Dave Viskochil
- , Pinar Bayrak-Toydemir
- , Rong Mao
- , Monte Westerfield
- , Anna Bican
- , Elly Brokamp
- , Laura Duncan
- , Rizwan Hamid
- , Jennifer Kennedy
- , Mary Kozuira
- , John H. Newman
- , John A. Phillips III
- , Lynette Rives
- , Amy K. Robertson
- , Emily Solem
- , Joy D. Cogan
- , F. Sessions Cole
- , Nichole Hayes
- , Dana Kiley
- , Kathy Sisco
- , Jennifer Wambach
- , Daniel Wegner
- , Dustin Baldridge
- , Stephen Pak
- , Timothy Schedl
- , Jimann Shin
- , Lilianna Solnica-Krezel
- , Quinten Waisfisz
- , Petra J. G. Zwijnenburg
- , Alban Ziegler
- , Magalie Barth
- , Rosemarie Smith
- , Sara Ellingwood
- , Deborah Gaebler-Spira
- , Somayeh Bakhtiari
- , Michael C. Kruer
- , Antoine H. C. van Kampen
- , Ronald J. A. Wanders
- , Hans R. Waterham
- , David Cassiman
- & Frédéric M. Vaz
Genetics in Medicine , 1–11

Rights & permissionsfor article An autosomal dominant neurological disorder caused by de novo variants in <i>FAR1</i> resulting in uncontrolled synthesis of ether lipids . Opens in a new window.
Research | 23 October 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
- Kelly Schoch
- , Cecilia Esteves
- , Anna Bican
- , Rebecca Spillmann
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Nicole Walley
- , Liliana Fernandez
- , Jennefer N. Kohler
- , Devon Bonner
- , Chloe Reuter
- , Nicholas Stong
- , John J. Mulvihill
- , Donna Novacic
- , Lynne Wolfe
- , Ayat Abdelbaki
- , Camilo Toro
- , Cyndi Tifft
- , May Malicdan
- , William Gahl
- , Pengfei Liu
- , John Newman
- , David B. Goldstein
- , Jason Hom
- , Jacinda Sampson
- , Matthew T. Wheeler
- , Mercedes E. Alejandro
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Lindsay C. Burrage
- , Hsiao-Tuan Chao
- , Gary D. Clark
- , William J. Craigen
- , Hongzheng Dai
- , Shweta U. Dhar
- , Lisa T. Emrick
- , Alica M. Goldman
- , Neil A. Hanchard
- , Fariha Jamal
- , Lefkothea Karaviti
- , Seema R. Lalani
- , Brendan H. Lee
- , Richard A. Lewis
- , Ronit Marom
- , Paolo M. Moretti
- , David R. Murdock
- , Sarah K. Nicholas
- , James P. Orengo
- , Jennifer E. Posey
- , Lorraine Potocki
- , Jill A. Rosenfeld
- , Susan L. Samson
- , Daryl A. Scott
- , Alyssa A. Tran
- , Tiphanie P. Vogel
- , Michael F. Wangler
- , Shinya Yamamoto
- , Christine M. Eng
- , Pengfei Liu
- , Patricia A. Ward
- , Edward Behrens
- , Matthew Deardorff
- , Marni Falk
- , Kelly Hassey
- , Kathleen Sullivan
- , Adeline Vanderver
- , David B. Goldstein
- , Heidi Cope
- , Allyn McConkie-Rosell
- , Kelly Schoch
- , Vandana Shashi
- , Edward C. Smith
- , Rebecca C. Spillmann
- , Jennifer A. Sullivan
- , Queenie K.-G. Tan
- , Nicole M. Walley
- , Pankaj B. Agrawal
- , Alan H. Beggs
- , Gerard T. Berry
- , Lauren C. Briere
- , Laurel A. Cobban
- , Matthew Coggins
- , Cynthia M. Cooper
- , Elizabeth L. Fieg
- , Frances High
- , Ingrid A. Holm
- , Susan Korrick
- , Joel B. Krier
- , Sharyn A. Lincoln
- , Joseph Loscalzo
- , Richard L. Maas
- , Calum A. MacRae
- , J. Carl Pallais
- , Deepak A. Rao
- , Lance H. Rodan
- , Edwin K. Silverman
- , Joan M. Stoler
- , David A. Sweetser
- , Melissa Walker
- , Chris A. Walsh
- , Cecilia Esteves
- , Emily G. Kelley
- , Isaac S. Kohane
- , Kimberly LeBlanc
- , Alexa T. McCray
- , Anna Nagy
- , Surendra Dasari
- , Brendan C. Lanpher
- , Ian R. Lanza
- , Eva Morava
- , Devin Oglesbee
- , Guney Bademci
- , Deborah Barbouth
- , Stephanie Bivona
- , Olveen Carrasquillo
- , Ta Chen Peter Chang
- , Irman Forghani
- , Alana Grajewski
- , Rosario Isasi
- , Byron Lam
- , Roy Levitt
- , Xue Zhong Liu
- , Jacob McCauley
- , Ralph Sacco
- , Mario Saporta
- , Judy Schaechter
- , Mustafa Tekin
- , Fred Telischi
- , Willa Thorson
- , Stephan Zuchner
- , Heather A. Colley
- , Jyoti G. Dayal
- , David J. Eckstein
- , Laurie C. Findley
- , Donna M. Krasnewich
- , Laura A. Mamounas
- , Teri A. Manolio
- , John J. Mulvihill
- , Grace L. LaMoure
- , Madison P. Goldrich
- , Tiina K. Urv
- , Argenia L. Doss
- , Maria T. Acosta
- , Carsten Bonnenmann
- , Precilla D’Souza
- , David D. Draper
- , Carlos Ferreira
- , Rena A. Godfrey
- , Catherine A. Groden
- , Ellen F. Macnamara
- , Valerie V. Maduro
- , Thomas C. Markello
- , Avi Nath
- , Donna Novacic
- , Barbara N. Pusey
- , Camilo Toro
- , Colleen E. Wahl
- , Eva Baker
- , Elizabeth A. Burke
- , David R. Adams
- , William A. Gahl
- , May Christine V. Malicdan
- , Cynthia J. Tifft
- , Lynne A. Wolfe
- , John Yang
- , Bradley Power
- , Bernadette Gochuico
- , Laryssa Huryn
- , Lea Latham
- , Joie Davis
- , Deborah Mosbrook-Davis
- , Francis Rossignol
- , Ben Solomon
- , John MacDowall
- , Audrey Thurm
- , Wadih Zein
- , Muhammad Yousef
- , Margaret Adam
- , Laura Amendola
- , Michael Bamshad
- , Anita Beck
- , Jimmy Bennett
- , Beverly Berg-Rood
- , Elizabeth Blue
- , Brenna Boyd
- , Peter Byers
- , Sirisak Chanprasert
- , Michael Cunningham
- , Katrina Dipple
- , Daniel Doherty
- , Dawn Earl
- , Ian Glass
- , Katie Golden-Grant
- , Sihoun Hahn
- , Anne Hing
- , Fuki M. Hisama
- , Martha Horike-Pyne
- , Gail P. Jarvik
- , Jeffrey Jarvik
- , Suman Jayadev
- , Christina Lam
- , Kenneth Maravilla
- , Heather Mefford
- , J. Lawrence Merritt
- , Ghayda Mirzaa
- , Deborah Nickerson
- , Wendy Raskind
- , Natalie Rosenwasser
- , C. Ron Scott
- , Angela Sun
- , Virginia Sybert
- , Stephanie Wallace
- , Mark Wener
- , Tara Wenger
- , Euan A. Ashley
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Devon Bonner
- , Terra R. Coakley
- , Liliana Fernandez
- , Paul G. Fisher
- , Laure Fresard
- , Jason Hom
- , Yong Huang
- , Jennefer N. Kohler
- , Elijah Kravets
- , Marta M. Majcherska
- , Beth A. Martin
- , Shruti Marwaha
- , Colleen E. McCormack
- , Archana N. Raja
- , Chloe M. Reuter
- , Maura Ruzhnikov
- , Jacinda B. Sampson
- , Kevin S. Smith
- , Shirley Sutton
- , Holly K. Tabor
- , Brianna M. Tucker
- , Matthew T. Wheeler
- , Diane B. Zastrow
- , Chunli Zhao
- , William E. Byrd
- , Andrew B. Crouse
- , Matthew Might
- , Mariko Nakano-Okuno
- , Jordan Whitlock
- , Gabrielle Brown
- , Manish J. Butte
- , Esteban C. Dell’Angelica
- , Naghmeh Dorrani
- , Emilie D. Douine
- , Brent L. Fogel
- , Irma Gutierrez
- , Alden Huang
- , Deborah Krakow
- , Hane Lee
- , Sandra K. Loo
- , Bryan C. Mak
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Elisabeth McGee
- , Stanley F. Nelson
- , Shirley Nieves-Rodriguez
- , Christina G. S. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Genecee Renteria
- , Rebecca H. Signer
- , Janet S. Sinsheimer
- , Jijun Wan
- , Lee-kai Wang
- , Katherine Wesseling Perry
- , Jeremy D. Woods
- , Justin Alvey
- , Ashley Andrews
- , Jim Bale
- , John Bohnsack
- , Lorenzo Botto
- , John Carey
- , Laura Pace
- , Nicola Longo
- , Gabor Marth
- , Paolo Moretti
- , Aaron Quinlan
- , Matt Velinder
- , Dave Viskochil
- , Pinar Bayrak-Toydemir
- , Rong Mao
- , Monte Westerfield
- , Anna Bican
- , Elly Brokamp
- , Laura Duncan
- , Rizwan Hamid
- , Jennifer Kennedy
- , Mary Kozuira
- , John H. Newman
- , John A. Phillips III
- , Lynette Rives
- , Amy K. Robertson
- , Emily Solem
- , Joy D. Cogan
- , F. Sessions Cole
- , Nichole Hayes
- , Dana Kiley
- , Kathy Sisco
- , Jennifer Wambach
- , Daniel Wegner
- , Dustin Baldridge
- , Stephen Pak
- , Timothy Schedl
- , Jimann Shin
- , Lilianna Solnica-Krezel
- , Joy Cogan
- , Jonathan A. Bernstein
- , David R. Adams
- , Alexa T. McCray
- & Vandana Shashi
Genetics in Medicine , 1–13

Rights & permissionsfor article Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science . Opens in a new window.
Amendments and Corrections | 3 July 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
- Mathilde Nizon
- , Vincent Laugel
- , Kevin M. Flanigan
- , Matthew Pastore
- , Megan A. Waldrop
- , Jill A. Rosenfeld
- , Ronit Marom
- , Rui Xiao
- , Amanda Gerard
- , Olivier Pichon
- , Cédric Le Caignec
- , Marion Gérard
- , Klaus Dieterich
- , Megan Truitt Cho
- , Kirsty McWalter
- , Susan Hiatt
- , Michelle L. Thompson
- , Stéphane Bézieau
- , Alexandrea Wadley
- , Klaas J. Wierenga
- , Jean-Marc Egly
- & Bertrand Isidor
Genetics in Medicine 21 , 2663–2663

Rights & permissionsfor article Correction: Variants in <i>MED12L</i>, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect . Opens in a new window.
Research | 3 June 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect
- Mathilde Nizon
- , Vincent Laugel
- , Kevin M. Flanigan
- , Matthew Pastore
- , Megan A. Waldrop
- , Jill A. Rosenfeld
- , Ronit Marom
- , Rui Xiao
- , Amanda Gerard
- , Olivier Pichon
- , Cédric Le Caignec
- , Marion Gérard
- , Klaus Dieterich
- , Megan Truitt Cho
- , Kirsty McWalter
- , Susan Hiatt
- , Michelle L. Thompson
- , Stéphane Bézieau
- , Alexandrea Wadley
- , Klaas J. Wierenga
- , Jean-Marc Egly
- & Bertrand Isidor
Genetics in Medicine 21 , 2713–2722

Rights & permissionsfor article Variants in <i>MED12L</i>, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect . Opens in a new window.
Research | 3 June 2019
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- Laure Frésard
- , Craig Smail
- , Nicole M. Ferraro
- , Nicole A. Teran
- , Xin Li
- , Kevin S. Smith
- , Devon Bonner
- , Kristin D. Kernohan
- , Shruti Marwaha
- , Zachary Zappala
- , Brunilda Balliu
- , Joe R. Davis
- , Boxiang Liu
- , Cameron J. Prybol
- , Jennefer N. Kohler
- , Diane B. Zastrow
- , Chloe M. Reuter
- , Dianna G. Fisk
- , Megan E. Grove
- , Jean M. Davidson
- , Taila Hartley
- , Ruchi Joshi
- , Benjamin J. Strober
- , Sowmithri Utiramerur
- , David R. Adams
- , Aaron Aday
- , Mercedes E. Alejandro
- , Patrick Allard
- , Euan A. Ashley
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Eva Baker
- , Ashok Balasubramanyam
- , Hayk Barseghyan
- , Gabriel F. Batzli
- , Alan H. Beggs
- , Babak Behnam
- , Hugo J. Bellen
- , Jonathan A. Bernstein
- , Gerard T. Berry
- , Anna Bican
- , David P. Bick
- , Camille L. Birch
- , Devon Bonner
- , Braden E. Boone
- , Bret L. Bostwick
- , Lauren C. Briere
- , Elly Brokamp
- , Donna M. Brown
- , Matthew Brush
- , Elizabeth A. Burke
- , Lindsay C. Burrage
- , Manish J. Butte
- , Shan Chen
- , Gary D. Clark
- , Terra R. Coakley
- , Joy D. Cogan
- , Heather A. Colley
- , Cynthia M. Cooper
- , Heidi Cope
- , William J. Craigen
- , Precilla D’Souza
- , Mariska Davids
- , Jean M. Davidson
- , Jyoti G. Dayal
- , Esteban C. Dell’Angelica
- , Shweta U. Dhar
- , Katrina M. Dipple
- , Laurel A. Donnell-Fink
- , Naghmeh Dorrani
- , Daniel C. Dorset
- , Emilie D. Douine
- , David D. Draper
- , Annika M. Dries
- , Laura Duncan
- , David J. Eckstein
- , Lisa T. Emrick
- , Christine M. Eng
- , Gregory M. Enns
- , Ascia Eskin
- , Cecilia Esteves
- , Tyra Estwick
- , Liliana Fernandez
- , Carlos Ferreira
- , Elizabeth L. Fieg
- , Paul G. Fisher
- , Brent L. Fogel
- , Noah D. Friedman
- , William A. Gahl
- , Emily Glanton
- , Rena A. Godfrey
- , Alica M. Goldman
- , David B. Goldstein
- , Sarah E. Gould
- , Jean-Philippe F. Gourdine
- , Catherine A. Groden
- , Andrea L. Gropman
- , Melissa Haendel
- , Rizwan Hamid
- , Neil A. Hanchard
- , Frances High
- , Ingrid A. Holm
- , Jason Hom
- , Ellen M. Howerton
- , Yong Huang
- , Fariha Jamal
- , Yong-hui Jiang
- , Jean M. Johnston
- , Angela L. Jones
- , Lefkothea Karaviti
- , David M. Koeller
- , Isaac S. Kohane
- , Jennefer N. Kohler
- , Donna M. Krasnewich
- , Susan Korrick
- , Mary Koziura
- , Joel B. Krier
- , Jennifer E. Kyle
- , Seema R. Lalani
- , C. Christopher Lau
- , Jozef Lazar
- , Kimberly LeBlanc
- , Brendan H. Lee
- , Hane Lee
- , Shawn E. Levy
- , Richard A. Lewis
- , Sharyn A. Lincoln
- , Sandra K. Loo
- , Joseph Loscalzo
- , Richard L. Maas
- , Ellen F. Macnamara
- , Calum A. MacRae
- , Valerie V. Maduro
- , Marta M. Majcherska
- , May Christine V. Malicdan
- , Laura A. Mamounas
- , Teri A. Manolio
- , Thomas C. Markello
- , Ronit Marom
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Shruti Marwaha
- , Thomas May
- , Allyn McConkie-Rosell
- , Colleen E. McCormack
- , Alexa T. McCray
- , Jason D. Merker
- , Thomas O. Metz
- , Matthew Might
- , Paolo M. Moretti
- , Marie Morimoto
- , John J. Mulvihill
- , David R. Murdock
- , Jennifer L. Murphy
- , Donna M. Muzny
- , Michele E. Nehrebecky
- , Stan F. Nelson
- , J. Scott Newberry
- , John H. Newman
- , Sarah K. Nicholas
- , Donna Novacic
- , Jordan S. Orange
- , James P. Orengo
- , J. Carl Pallais
- , Christina GS. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Loren DM. Pena
- , John A. Phillips III
- , Jennifer E. Posey
- , John H. Postlethwait
- , Lorraine Potocki
- , Barbara N. Pusey
- , Genecee Renteria
- , Chloe M. Reuter
- , Lynette Rives
- , Amy K. Robertson
- , Lance H. Rodan
- , Jill A. Rosenfeld
- , Jacinda B. Sampson
- , Susan L. Samson
- , Kelly Schoch
- , Daryl A. Scott
- , Lisa Shakachite
- , Prashant Sharma
- , Vandana Shashi
- , Rebecca Signer
- , Edwin K. Silverman
- , Janet S. Sinsheimer
- , Kevin S. Smith
- , Rebecca C. Spillmann
- , Joan M. Stoler
- , Nicholas Stong
- , Jennifer A. Sullivan
- , David A. Sweetser
- , Queenie K.-G. Tan
- , Cynthia J. Tifft
- , Camilo Toro
- , Alyssa A. Tran
- , Tiina K. Urv
- , Eric Vilain
- , Tiphanie P. Vogel
- , Daryl M. Waggott
- , Colleen E. Wahl
- , Nicole M. Walley
- , Chris A. Walsh
- , Melissa Walker
- , Jijun Wan
- , Michael F. Wangler
- , Patricia A. Ward
- , Katrina M. Waters
- , Bobbie-Jo M. Webb-Robertson
- , Monte Westerfield
- , Matthew T. Wheeler
- , Anastasia L. Wise
- , Lynne A. Wolfe
- , Elizabeth A. Worthey
- , Shinya Yamamoto
- , John Yang
- , Yaping Yang
- , Amanda J. Yoon
- , Guoyun Yu
- , Diane B. Zastrow
- , Chunli Zhao
- , Allison Zheng
- , Kym Boycott
- , Alex MacKenzie
- , Jacek Majewski
- , Michael Brudno
- , Dennis Bulman
- , David Dyment
- , Lars Lind
- , Erik Ingelsson
- , Alexis Battle
- , Gill Bejerano
- , Jonathan A. Bernstein
- , Euan A. Ashley
- , Kym M. Boycott
- , Jason D. Merker
- , Matthew T. Wheeler
- & Stephen B. Montgomery
Nature Medicine 25 , 911–919

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Research | 15 June 2018
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
- Vandana Shashi
- , Kelly Schoch
- , Rebecca Spillmann
- , Heidi Cope
- , Queenie K.-G. Tan
- , Nicole Walley
- , Loren Pena
- , Allyn McConkie-Rosell
- , Yong-Hui Jiang
- , Nicholas Stong
- , Anna C. Need
- , David B. Goldstein
- , David R. Adams
- , Mercedes E. Alejandro
- , Patrick Allard
- , Euan A. Ashley
- , Mahshid S. Azamian
- , Carlos A. Bacino
- , Ashok Balasubramanyam
- , Hayk Barseghyan
- , Gabriel F. Batzli
- , Alan H. Beggs
- , Babak Behnam
- , Hugo J. Bellen
- , Jonathan A. Bernstein
- , Anna Bican
- , David P. Bick
- , Camille L. Birch
- , Devon Bonner
- , Braden E. Boone
- , Bret L. Bostwick
- , Lauren C. Briere
- , Donna M. Brown
- , Matthew Brush
- , Elizabeth A. Burke
- , Lindsay C. Burrage
- , Manish J. Butte
- , Shan Chen
- , Gary D. Clark
- , Terra R. Coakley
- , Joy D. Cogan
- , Cynthia M. Cooper
- , Heidi Cope
- , William J. Craigen
- , Precilla D’Souza
- , Mariska Davids
- , Jean M. Davidson
- , Jyoti G. Dayal
- , Esteban C. Dell’Angelica
- , Shweta U. Dhar
- , Katrina M. Dipple
- , Laurel A. Donnell-Fink
- , Naghmeh Dorrani
- , Daniel C. Dorset
- , Emilie D. Douine
- , David D. Draper
- , Annika M. Dries
- , David J. Eckstein
- , Lisa T. Emrick
- , Christine M. Eng
- , Gregory M. Enns
- , Ascia Eskin
- , Cecilia Esteves
- , Tyra Estwick
- , Liliana Fernandez
- , Carlos Ferreira
- , Paul G. Fisher
- , Brent L. Fogel
- , Noah D. Friedman
- , William A. Gahl
- , Emily Glanton
- , Rena A. Godfrey
- , David B. Goldstein
- , Sarah E. Gould
- , Jean-Philippe F. Gourdine
- , Catherine A. Groden
- , Andrea L. Gropman
- , Melissa Haendel
- , Rizwan Hamid
- , Neil A. Hanchard
- , Lori H. Handley
- , Matthew R. Herzog
- , Ingrid A. Holm
- , Jason Hom
- , Ellen M. Howerton
- , Yong Huang
- , Howard J. Jacob
- , Mahim Jain
- , Yong-hui Jiang
- , Jean M. Johnston
- , Angela L. Jones
- , David M. Koeller
- , Isaac S. Kohane
- , Jennefer N. Kohler
- , Donna M. Krasnewich
- , Elizabeth L. Krieg
- , Joel B. Krier
- , Jennifer E. Kyle
- , Seema R. Lalani
- , C. Christopher Lau
- , Jozef Lazar
- , Kimberly LeBlanc
- , Brendan H. Lee
- , Hane Lee
- , Shawn E. Levy
- , Richard A. Lewis
- , Sharyn A. Lincoln
- , Sandra K. Loo
- , Joseph Loscalzo
- , Richard L. Maas
- , Ellen F. Macnamara
- , Calum A. MacRae
- , Valerie V. Maduro
- , Marta M. Majcherska
- , May Christine V. Malicdan
- , Laura A. Mamounas
- , Teri A. Manolio
- , Thomas C. Markello
- , Ronit Marom
- , Martin G. Martin
- , Julian A. Martínez-Agosto
- , Shruti Marwaha
- , Thomas May
- , Allyn McConkie-Rosell
- , Colleen E. McCormack
- , Alexa T. McCray
- , Jason D. Merker
- , Thomas O. Metz
- , Matthew Might
- , Paolo M. Moretti
- , Marie Morimoto
- , John J. Mulvihill
- , Jennifer L. Murphy
- , Donna M. Muzny
- , Michele E. Nehrebecky
- , Stan F. Nelson
- , J. Scott Newberry
- , John H. Newman
- , Sarah K. Nicholas
- , Donna Novacic
- , Jordan S. Orange
- , J. Carl Pallais
- , Christina GS. Palmer
- , Jeanette C. Papp
- , Neil H. Parker
- , Loren DM. Pena
- , John A. Phillips III
- , Jennifer E. Posey
- , John H. Postlethwait
- , Lorraine Potocki
- , Barbara N. Pusey
- , Chloe M. Reuter
- , Amy K. Robertson
- , Lance H. Rodan
- , Jill A. Rosenfeld
- , Jacinda B. Sampson
- , Susan L. Samson
- , Kelly Schoch
- , Molly C. Schroeder
- , Daryl A. Scott
- , Prashant Sharma
- , Vandana Shashi
- , Edwin K. Silverman
- , Janet S. Sinsheimer
- , Kevin S. Smith
- , Rebecca C. Spillmann
- , Joan M. Stoler
- , Nicholas Stong
- , Jennifer A. Sullivan
- , David A. Sweetser
- , Queenie K.-G. Tan
- , Cynthia J. Tifft
- , Camilo Toro
- , Alyssa A. Tran
- , Tiina K. Urv
- , Zaheer M. Valivullah
- , Eric Vilain
- , Tiphanie P. Vogel
- , Daryl M. Waggott
- , Colleen E. Wahl
- , Nicole M. Walley
- , Chris A. Walsh
- , Jijun Wan
- , Michael F. Wangler
- , Patricia A. Ward
- , Katrina M. Waters
- , Bobbie-Jo M. Webb-Robertson
- , Monte Westerfield
- , Matthew T. Wheeler
- , Anastasia L. Wise
- , Lynne A. Wolfe
- , Elizabeth A. Worthey
- , Shinya Yamamoto
- , Yaping Yang
- , Amanda J. Yoon
- , Guoyun Yu
- , Diane B. Zastrow
- , Chunli Zhao
- & Allison Zheng
Genetics in Medicine 21 , 161–172

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