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Showing 1–19 of 19 results
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Research | | 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
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Research |
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
-
Research | | Open
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
- Elisa Rahikkala
- , Matti Myllykoski
- , Reetta Hinttala
- , Päivi Vieira
- , Naemeh Nayebzadeh
- , Simone Weiss
- , Astrid S. Plomp
- , Reginald E. Bittner
- , Mitja I. Kurki
- , Outi Kuismin
- , Andrea M. Lewis
- , Marja-Leena Väisänen
- , Hannaleena Kokkonen
- , Jonne Westermann
- , Günther Bernert
- , Hannu Tuominen
- , Aarno Palotie
- , Lauri Aaltonen
- , Yaping Yang
- , Lorraine Potocki
- , Jukka Moilanen
- , Silvana van Koningsbruggen
- , Xia Wang
- , Wolfgang M. Schmidt
- , Peppi Koivunen
- & Johanna Uusimaa
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
- Michael D. Fountain
- , Emmelien Aten
- , Megan T. Cho
- , Jane Juusola
- , Magdalena A. Walkiewicz
- , Joseph W. Ray
- , Fan Xia
- , Yaping Yang
- , Brett H. Graham
- , Carlos A. Bacino
- , Lorraine Potocki
- , Arie van Haeringen
- , Claudia A.L. Ruivenkamp
- , Pedro Mancias
- , Hope Northrup
- , Mary K. Kukolich
- , Marjan M. Weiss
- , Conny M.A. van Ravenswaaij-Arts
- , Inge B. Mathijssen
- , Sebastien Levesque
- , Naomi Meeks
- , Jill A. Rosenfeld
- , Danielle Lemke
- , Ada Hamosh
- , Suzanne K. Lewis
- , Simone Race
- , Laura L. Stewart
- , Beverly Hay
- , Andrea M. Lewis
- , Rita L. Guerreiro
- , Jose T. Bras
- , Marcia P. Martins
- , Gerarda Derksen-Lubsen
- , Els Peeters
- , Connie Stumpel
- , Sander Stegmann
- , Levinus A. Bok
- , Gijs W.E. Santen
- & Christian P. Schaaf
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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
-
Research |
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
-
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
- Loren D M Pena
- , Yong-Hui Jiang
- , Kelly Schoch
- , Rebecca C Spillmann
- , Nicole Walley
- , Nicholas Stong
- , Sarah Rapisardo Horn
- , Jennifer A Sullivan
- , Allyn McConkie-Rosell
- , Sujay Kansagra
- , Edward C Smith
- , Mays El-Dairi
- , Jane Bellet
- , Martha Ann Keels
- , Joan Jasien
- , Peter G Kranz
- , Richard Noel
- , Shashi K Nagaraj
- , Robert K Lark
- , Daniel S G Wechsler
- , Daniela del Gaudio
- , Marco L Leung
- , Laura G Hendon
- , Collette C Parker
- , Kelly L Jones
- , Mercedes E Alejandro
- , Carlos A Bacino
- , Ashok Balasubramanyam
- , Bret L Bostwick
- , Lindsay C Burrage
- , Shan Chen
- , Gary D Clark
- , William J Craigen
- , Shweta U Dhar
- , Lisa T Emrick
- , Brett H Graham
- , Neil A Hanchard
- , Mahim Jain
- , Seema R Lalani
- , Brendan H Lee
- , Richard A Lewis
- , Mashid S Azamian
- , Paolo M Moretti
- , Sarah K Nicholas
- , Jordan S Orange
- , Jennifer E Posey
- , Lorraine Potocki
- , Jill A Rosenfeld
- , Susan L Samson
- , Daryl A Scott
- , Alyssa A Tran
- , Tiphanie P Vogel
- , Jing Zhang
- , Hugo J Bellen
- , Michael F Wangler
- , Shinya Yamamoto
- , Christine M Eng
- , Donna M Muzny
- , Patricia A Ward
- , Yaping Yang
- , David B Goldstein
- , Nicholas Stong
- , Yong-hui Jiang
- , Allyn McConkie-Rosell
- , Loren D M Pena
- , Kelly Schoch
- , Vandana Shashi
- , Rebecca C Spillmann
- , Jennifer A Sullivan
- , Nicole M Walley
- , Alan H Beggs
- , Lauren C Briere
- , Cynthia M Cooper
- , Laurel A Donnell-Fink
- , Elizabeth L Krieg
- , Joel B Krier
- , Sharyn A Lincoln
- , Joseph Loscalzo
- , Richard L Maas
- , Calum A MacRae
- , J Carl Pallais
- , Lance H Rodan
- , Edwin K Silverman
- , Joan M Stoler
- , David A Sweetser
- , Chris A Walsh
- , Cecilia Esteves
- , Ingrid A Holm
- , Isaac S Kohane
- , Paul Mazur
- , Alexa T McCray
- , Matthew Might
- , Rachel B Ramoni
- , Kimberly Splinter
- , David P Bick
- , Camille L Birch
- , Braden E Boone
- , Donna M Brown
- , Daniel C Dorset
- , Lori H Handley
- , Howard J Jacob
- , Angela L Jones
- , Jozef Lazar
- , Shawn E Levy
- , J Scott Newberry
- , Molly C Schroeder
- , Kimberly A Strong
- , Elizabeth A Worthey
- , Jyoti G Dayal
- , David J Eckstein
- , Sarah E Gould
- , Ellen M Howerton
- , Donna M Krasnewich
- , Laura A Mamounas
- , Teri A Manolio
- , John J Mulvihill
- , Tiina K Urv
- , Anastasia L Wise
- , Ariane G Soldatos
- , Matthew Brush
- , Jean-Philippe F Gourdine
- , Melissa Haendel
- , David M Koeller
- , Jennifer E Kyle
- , Thomas O Metz
- , Katrina M Waters
- , Bobbie-Jo M Webb-Robertson
- , Euan A Ashley
- , Jonathan A Bernstein
- , Annika M Dries
- , Paul G Fisher
- , Jennefer N Kohler
- , Daryl M Waggott
- , Matthew T Wheeler
- , Patricia A Zornio
- , Patrick Allard
- , Hayk Barseghyan
- , Esteban C Dell'Angelica
- , Ani Dillon
- , Katrina M Dipple
- , Naghmeh Dorrani
- , Emilie D Douine
- , Ascia Eskin
- , Brent L Fogel
- , Matthew R Herzog
- , Hane Lee
- , Allen Lipson
- , Sandra K Loo
- , Julian A Martínez-Agosto
- , Stan F Nelson
- , Christina G S Palmer
- , Jeanette C Papp
- , Neil H Parker
- , Janet S Sinsheimer
- , Eric Vilain
- , Allison Zheng
- , Christopher J Adams
- , Elizabeth A Burke
- , Katherine R Chao
- , Mariska Davids
- , David D Draper
- , Tyra Estwick
- , Trevor S Frisby
- , Kate Frost
- , Valerie Gartner
- , Rena A Godfrey
- , Mitchell Goheen
- , Gretchen A Golas
- , Mary G Gordon
- , Catherine A Groden
- , Mary E Hackbarth
- , Isabel Hardee
- , Jean M Johnston
- , Alanna E Koehler
- , Lea Latham
- , Yvonne L Latour
- , C Christopher Lau
- , Denise J Levy
- , Adam P Liebendorfer
- , Ellen F Macnamara
- , Valerie V Maduro
- , Thomas C Markello
- , Alexandra J McCarty
- , Jennifer L Murphy
- , Michele E Nehrebecky
- , Donna Novacic
- , Barbara N Pusey
- , Sarah Sadozai
- , Katherine E Schaffer
- , Prashant Sharma
- , Sara P Thomas
- , Nathanial J Tolman
- , Camilo Toro
- , Zaheer M Valivullah
- , Colleen E Wahl
- , Mike Warburton
- , Alec A Weech
- , Guoyun Yu
- , Andrea L Gropman
- , David R Adams
- , William A Gahl
- , May Christine V Malicdan
- , Cynthia J Tifft
- , Lynne A Wolfe
- , Paul R Lee
- , John H Postlethwait
- , Monte Westerfield
- , Anna Bican
- , Joy D Cogan
- , Rizwan Hamid
- , John H Newman
- , John A Phillips III
- , Amy K Robertson
- , David B Goldstein
- & Vandana Shashi
-
Research |
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities
- Seema R Lalani
- , Chad Shaw
- , Xueqing Wang
- , Ankita Patel
- , Lance W Patterson
- , Katarzyna Kolodziejska
- , Przemyslaw Szafranski
- , Zhishuo Ou
- , Qi Tian
- , Sung-Hae L Kang
- , Amina Jinnah
- , Sophia Ali
- , Aamir Malik
- , Patricia Hixson
- , Lorraine Potocki
- , James R Lupski
- , Pawel Stankiewicz
- , Carlos A Bacino
- , Brian Dawson
- , Arthur L Beaudet
- , Fatima M Boricha
- , Runako Whittaker
- , Chumei Li
- , Stephanie M Ware
- , Sau Wai Cheung
- , Daniel J Penny
- , John Lynn Jefferies
- & John W Belmont
-
Research |
-
Research |
-
Research |
The phenotype of recurrent 10q22q23 deletions and duplications
- Bregje W M van Bon
- , Jorune Balciuniene
- , Gary Fruhman
- , Sandesh Chakravarthy Sreenath Nagamani
- , Diane L Broome
- , Elizabeth Cameron
- , Danielle Martinet
- , Eliane Roulet
- , Sebastien Jacquemont
- , Jacques S Beckmann
- , Mira Irons
- , Lorraine Potocki
- , Brendan Lee
- , Sau Wai Cheung
- , Ankita Patel
- , Melissa Bellini
- , Angelo Selicorni
- , Roberto Ciccone
- , Margherita Silengo
- , Annalisa Vetro
- , Nine V Knoers
- , Nicole de Leeuw
- , Rolph Pfundt
- , Barry Wolf
- , Petr Jira
- , Swaroop Aradhya
- , Pawel Stankiewicz
- , Han G Brunner
- , Orsetta Zuffardi
- , Scott B Selleck
- , James R Lupski
- & Bert B A de Vries
