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Amendments and Corrections |
Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- Joanna Kennedy
- , David Goudie
- , Edward Blair
- , Kate Chandler
- , Shelagh Joss
- , Victoria McKay
- , Andrew Green
- , Ruth Armstrong
- , Melissa Lees
- , Benjamin Kamien
- , Bruce Hopper
- , Tiong Yang Tan
- , Patrick Yap
- , Zornitza Stark
- , Nobuhiko Okamoto
- , Noriko Miyake
- , Naomichi Matsumoto
- , Ellen Macnamara
- , Jennifer L. Murphy
- , Elizabeth McCormick
- , Hakon Hakonarson
- , Marni J. Falk
- , Dong Li
- , Patrick Blackburn
- , Eric Klee
- , Dusica Babovic-Vuksanovic
- , Susan Schelley
- , Louanne Hudgins
- , Sarina Kant
- , Bertrand Isidor
- , Benjamin Cogne
- , Kimberley Bradbury
- , Mark Williams
- , Chirag Patel
- , Helen Heussler
- , Celia Duff-Farrier
- , Phillis Lakeman
- , Ingrid Scurr
- , Usha Kini
- , Mariet Elting
- , Margot Reijnders
- , Janneke Schuurs-Hoeijmakers
- , Mohamed Wafik
- , Anne Blomhoff
- , Claudia A. L. Ruivenkamp
- , Esther Nibbeling
- , Alexander J. M. Dingemans
- , Emilie D. Douine
- , Stanley F. Nelson
- , Maja Hempel
- , Tatjana Bierhals
- , Davor Lessel
- , Jessika Johannsen
- , Valerie A. Arboleda
- & Ruth Newbury-Ecob
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Amendments and Corrections |
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Research | | Open
Household illness and associated water and sanitation factors in peri-urban Lusaka, Zambia, 2016–2017
- Sydney C. Hubbard
- , Martin I. Meltzer
- , Sunkyung Kim
- , Warren Malambo
- , Andrew T. Thornton
- , Manjunath B. Shankar
- , Bishwa B. Adhikari
- , Seonghye Jeon
- , Valerie D. Bampoe
- , Lauren C. Cunningham
- , Jennifer L. Murphy
- , Gordana Derado
- , Eric D. Mintz
- , Florence Kabinga Mwale
- , Elizabeth Chizema-Kawesha
- & Joan M. Brunkard
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Correspondence |
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Research |
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
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Research |
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
- Joanna Kennedy
- , David Goudie
- , Edward Blair
- , Kate Chandler
- , Shelagh Joss
- , Victoria McKay
- , Andrew Green
- , Ruth Armstrong
- , Melissa Lees
- , Benjamin Kamien
- , Bruce Hopper
- , Tiong Yang Tan
- , Patrick Yap
- , Zornitza Stark
- , Nobuhiko Okamoto
- , Noriko Miyake
- , Naomichi Matsumoto
- , Ellen Macnamara
- , Jennifer L. Murphy
- , Elizabeth McCormick
- , Hakon Hakonarson
- , Marni J. Falk
- , Dong Li
- , Patrick Blackburn
- , Eric Klee
- , Dusica Babovic-Vuksanovic
- , Susan Schelley
- , Louanne Hudgins
- , Sarina Kant
- , Bertrand Isidor
- , Benjamin Cogne
- , Kimberley Bradbury
- , Mark Williams
- , Chirag Patel
- , Helen Heussler
- , Celia Duff-Farrier
- , Phillis Lakeman
- , Ingrid Scurr
- , Usha Kini
- , Mariet Elting
- , Margot Reijnders
- , Janneke Schuurs-Hoeijmakers
- , Mohamed Wafik
- , Anne Blomhoff
- , Claudia A. L. Ruivenkamp
- , Esther Nibbeling
- , Alexander J. M. Dingemans
- , Emilie D. Douine
- , Stanley F. Nelson
- , Maja Hempel
- , Tatjana Bierhals
- , Davor Lessel
- , Jessika Johannsen
- , Valerie A. Arboleda
- & Ruth Newbury-Ecob
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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
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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
