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Correction |
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
- Krinio Giannikou
- , Kathryn D. Lasseter
- , Joannes M. Grevelink
- , Magdalena E. Tyburczy
- , Kira A. Dies
- , Zachary Zhu
- , Lana Hamieh
- , Bruce M. Wollison
- , Aaron R. Thorner
- , Stephen J. Ruoss
- , Elizabeth A. Thiele
- , Mustafa Sahin
- & David J. Kwiatkowski
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Correction |
Correction: Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives
- Brent M. Kious
- , Anna R. Docherty
- , Jeffrey R. Botkin
- , Teneille R. Brown
- , Leslie P. Francis
- , Douglas D. Gray
- , Brooks R. Keeshin
- , Louisa A. Stark
- , Brieanne Witte
- & Hilary Coon
-
Correction |
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
- Thomas Roux
- , Mathieu Barbier
- , Mélanie Papin
- , Claire-Sophie Davoine
- , Sabrina Sayah
- , Giulia Coarelli
- , Perrine Charles
- , Cecilia Marelli
- , Livia Parodi
- , Christine Tranchant
- , Cyril Goizet
- , Stephan Klebe
- , Ebba Lohmann
- , Lionel Van Maldergem
- , Christine van Broeckhoven
- , Marie Coutelier
- , Christelle Tesson
- , Giovanni Stevanin
- , Charles Duyckaerts
- , Alexis Brice
- , Alexandra Durr
- , Alexandra Durr
- , Giovanni Stevanin
- , Alexis Brice
- , Frédéric Darios
- , Sylvie Forlani
- , Pitié-Salpêtrière Site
- , Guillaume Banneau
- , Cécile Cazeneuve
- , Perrine Charles
- , Charles Duyckaerts
- , Bertrand Fontaine
- , Jean-Philippe Azulay
- , Odile Boesfplug-Tanguy
- , Cyril Goizet
- , Didier Hannequin
- , Jamilé Hazan
- , Andrea Burgo
- , Christophe Verny
- , Michel Koenig
- , Pierre Labauge
- , Cecilia Marelli
- , Karine N’guyen
- , Diana Rodriguez
- , Soraya Belarbi
- , Abdelmadjid Hamri
- , Meriem Tazir
- , Sylvia Boesch
- , Massimo Pandolfo
- , Jardim Laura
- , Velina Guergueltcheva
- , Ivalo Tournev
- , Olga Lucia Pedraza Linarès
- , Jørgen E. Nielsen
- , Kirsten Svenstrup
- , Maha Zaki
- , Peter Bauer
- , Lüdger Schöls
- , Rebecca Schüle
- , Alexander Lossos
- , Maria-Teresa Bassi
- , Manuela Basso
- , Enrico Bertini
- , Alfredo Brusco
- , Carlo Casali
- , Giorgio Casari
- , Chiara Criscuolo
- , Alessandro Filla
- , Laura Orsi
- , Filippo M. Santorelli
- , Enza Maria Valente
- , Marinela Vavla
- , Giovanni Vazza
- , André Megarbane
- , Ali Benomar
- , Berry Kremer
- , Willeke Van Roon-Mom
- , Richard Roxburgh
- , Anne Kjersti Erichsen
- , Chantal Tallaksen
- , Isabel Alonso
- , Paula Coutinho
- , José Léal Loureiro
- , Jorge Sequeiros
- , Mustapha Salih
- , Vladimir S Kostic
- , Idoia Rouco Axpe
- , Liena Elsayed
- , Martin Arce Paucar
- , Samir Roumani
- , Soong Bing-Wen
- , Evan Reid
- , Nethisinghe Suran
- , Thomas Warner
- & Nicholas Wood
-
In This Issue |
In This Issue
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News |
News
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Article |
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders
- Julie Steffann
- , Sophie Monnot
- , Maryse Magen
- , Zahra Assouline
- , Nadine Gigarel
- , Yves Ville
- , Laurent Salomon
- , Bettina Bessiere
- , Jelena Martinovic
- , Agnès Rötig
- , Joana Bengoa
- , Roxana Borghèse
- , Arnold Munnich
- , Giulia Barcia
- & Jean-Paul Bonnefont
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Comment
| Open AccessReal-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative
- Kelsey S. Lau-Min
- , Stephanie Byers Asher
- , Jessica Chen
- , Susan M. Domchek
- , Michael Feldman
- , Steven Joffe
- , Jeffrey Landgraf
- , Virginia Speare
- , Lisa A. Varughese
- , Sony Tuteja
- , Christine VanZandbergen
- , Marylyn D. Ritchie
- & Katherine L. Nathanson
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Article |
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
- Chiara Klöckner
- , Heinrich Sticht
- , Pia Zacher
- , Bernt Popp
- , Holly E. Babcock
- , Dewi P. Bakker
- , Katy Barwick
- , Michaela V. Bonfert
- , Carsten G. Bönnemann
- , Eva H. Brilstra
- , Wendy K. Chung
- , Angus J. Clarke
- , Patrick Devine
- , Sandra Donkervoort
- , Jamie L. Fraser
- , Jennifer Friedman
- , Alyssa Gates
- , Jamal Ghoumid
- , Emma Hobson
- , Gabriella Horvath
- , Jennifer Keller-Ramey
- , Boris Keren
- , Manju A. Kurian
- , Virgina Lee
- , Kathleen A. Leppig
- , Johan Lundgren
- , Marie T. McDonald
- , Amy McTague
- , Heather C. Mefford
- , Cyril Mignot
- , Mohamad A. Mikati
- , Caroline Nava
- , F. Lucy Raymond
- , Julian R. Sampson
- , Alba Sanchis-Juan
- , Vandana Shashi
- , Joseph T. C. Shieh
- , Marwan Shinawi
- , Anne Slavotinek
- , Tommy Stödberg
- , Nicholas Stong
- , Jennifer A. Sullivan
- , Ashley C. Taylor
- , Tomi L. Toler
- , Marie-José van den Boogaard
- , Saskia N. van der Crabben
- , Koen L. I. van Gassen
- , Richard H. van Jaarsveld
- , Jessica Van Ziffle
- , Alexandrea F. Wadley
- , Matias Wagner
- , Kristen Wigby
- , Saskia B. Wortmann
- , Yuri A. Zarate
- , Rikke S. Møller
- , Johannes R. Lemke
- & Konrad Platzer
-
Brief Communication
| Open AccessAutosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
- Daniel Peter Sayer Osborn
- , Leila Emrahi
- , Joshua Clayton
- , Mehrnoush Toufan Tabrizi
- , Alex Yui Bong Wan
- , Reza Maroofian
- , Mohammad Yazdchi
- , Michael Leon Enrique Garcia
- , Hamid Galehdari
- , Camila Hesse
- , Gholamreza Shariati
- , Neda Mazaheri
- , Alireza Sedaghat
- , Hayley Goullée
- , Nigel Laing
- , Yalda Jamshidi
- & Homa Tajsharghi
-
Correction
| Open AccessCorrection: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network
- Kenneth D. Levy
- , Kathryn Blake
- , Colette Fletcher-Hoppe
- , James Franciosi
- , Daisuke Goto
- , James K. Hicks
- , Ann M. Holmes
- , Sri Harsha Kanuri
- , Ebony B. Madden
- , Michael D. Musty
- , Lori Orlando
- , Victoria M. Pratt
- , Michelle Ramos
- , Ryanne Wu
- & Geoffrey S. Ginsburg
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Article |
Health and economic outcomes of newborn screening for infantile-onset Pompe disease
- John S. Richardson
- , Alex R. Kemper
- , Scott D. Grosse
- , Wendy K. K. Lam
- , Angela M. Rose
- , Ayesha Ahmad
- , Achamyeleh Gebremariam
- & Lisa A. Prosser
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Article
| Open AccessRisk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
- Mev Dominguez-Valentin
- , Emma J. Crosbie
- , Christoph Engel
- , Stefan Aretz
- , Finlay Macrae
- , Ingrid Winship
- , Gabriel Capella
- , Huw Thomas
- , Sigve Nakken
- , Eivind Hovig
- , Maartje Nielsen
- , Rolf H. Sijmons
- , Lucio Bertario
- , Bernardo Bonanni
- , Maria Grazia Tibiletti
- , Giulia Martina Cavestro
- , Miriam Mints
- , Nathan Gluck
- , Lior Katz
- , Karl Heinimann
- , Carlos A. Vaccaro
- , Kate Green
- , Fiona Lalloo
- , James Hill
- , Wolff Schmiegel
- , Deepak Vangala
- , Claudia Perne
- , Hans-Georg Strauß
- , Johanna Tecklenburg
- , Elke Holinski-Feder
- , Verena Steinke-Lange
- , Jukka-Pekka Mecklin
- , John-Paul Plazzer
- , Marta Pineda
- , Matilde Navarro
- , Joan Brunet Vidal
- , Revital Kariv
- , Guy Rosner
- , Tamara Alejandra Piñero
- , María Laura Gonzalez
- , Pablo Kalfayan
- , Neil Ryan
- , Sanne W. ten Broeke
- , Mark A. Jenkins
- , Lone Sunde
- , Inge Bernstein
- , John Burn
- , Marc Greenblatt
- , Wouter H. de Vos tot Nederveen Cappel
- , Adriana Della Valle
- , Francisco Lopez-Koestner
- , Karin Alvarez
- , Reinhard Büttner
- , Heike Görgens
- , Monika Morak
- , Stefanie Holzapfel
- , Robert Hüneburg
- , Magnus von Knebel Doeberitz
- , Markus Loeffler
- , Nils Rahner
- , Jürgen Weitz
- , Kirsi Pylvänäinen
- , Laura Renkonen-Sinisalo
- , Anna Lepistö
- , Annika Auranen
- , John L. Hopper
- , Aung Ko Win
- , Robert W. Haile
- , Noralane M. Lindor
- , Steven Gallinger
- , Loïc Le Marchand
- , Polly A. Newcomb
- , Jane C. Figueiredo
- , Stephen N. Thibodeau
- , Christina Therkildsen
- , Henrik Okkels
- , Zohreh Ketabi
- , Oliver G. Denton
- , Einar Andreas Rødland
- , Hans Vasen
- , Florencia Neffa
- , Patricia Esperon
- , Douglas Tjandra
- , Gabriela Möslein
- , Julian R. Sampson
- , D. Gareth Evans
- , Toni T. Seppälä
- & Pål Møller
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Brief Communication |
A state-based approach to genomics for rare disease and population screening
- Kelly M. East
- , Whitley V. Kelley
- , Ashley Cannon
- , Meagan E. Cochran
- , Irene P. Moss
- , Thomas May
- , Mariko Nakano-Okuno
- , Stephen O. Sodeke
- , Jeffrey C. Edberg
- , James J. Cimino
- , Mona Fouad
- , William A. Curry
- , Anna C. E. Hurst
- , Kevin M. Bowling
- , Michelle L. Thompson
- , E. Martina Bebin
- , Robert D. Johnson
- , Aras Acemgil
- , David K. Crossman
- , Candice R. Finnila
- , David E. Gray
- , Veronica Greve
- , Sharonda Hardy
- , Susan M. Hiatt
- , Donald R. Latner
- , James M. J. Lawlor
- , Edrika L. Miskell
- , Whitney Narmore
- , Julie H. Schach
- , Gregory M. Cooper
- , Matthew Might
- , Gregory S. Barsh
- & Bruce R. Korf
-
Article |
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- Dong Li
- , Alanna Strong
- , Kaitlyn M. Shen
- , David Cassiman
- , Maria Van Dyck
- , Natalia Duarte Linhares
- , Eugenia Ribeiro Valadares
- , Tiancheng Wang
- , Sergio D. J. Pena
- , Jaak Jaeken
- , Samantha Vergano
- , Elaine Zackai
- , Anne Hing
- , Penny Chow
- , Arupa Ganguly
- , Tasja Scholz
- , Tatjana Bierhals
- , Deindl Philipp
- , Hakon Hakonarson
- & Elizabeth Bhoj
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Article |
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
- D. L. Polla
- , E. J. Bhoj
- , J. B. G. M. Verheij
- , J. S. Klein Wassink-Ruiter
- , A. Reis
- , C. Deshpande
- , A. Gregor
- , K. Hill-Karfe
- , A. T. Vulto-van Silfhout
- , R. Pfundt
- , E. M. H. F. Bongers
- , H. Hakonarson
- , S. Berland
- , G. Gradek
- , S. Banka
- , K. Chandler
- , L. Gompertz
- , S. C. Huffels
- , C. T. R. M. Stumpel
- , R. Wennekes
- , A. P. A. Stegmann
- , W. Reardon
- , E. K. S. M. Leenders
- , B. B. A. de Vries
- , D. Li
- , E. Zackai
- , N. Ragge
- , S. A. Lynch
- , S. Cuddapah
- , H. van Bokhoven
- , C. Zweier
- & A. P. M. de Brouwer
-
Article
| Open AccessAn 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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Article |
Neurofilament light chain levels correlate with clinical measures in CLN3 disease
- An N. Dang Do
- , Ninet Sinaii
- , Ruturaj R. Masvekar
- , Eva H. Baker
- , Audrey E. Thurm
- , Ariane G. Soldatos
- , Simona E. Bianconi
- , Bibiana Bielekova
- & Forbes D. Porter
-
Correction
| Open AccessCorrection: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
- Daniel G. Bichet
- , Johannes M. Aerts
- , Christiane Auray-Blais
- , Hiroki Maruyama
- , Atul B. Mehta
- , Nina Skuban
- , Eva Krusinska
- & Raphael Schiffmann
-
Article |
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort
- Asha N. Talati
- , Kelly L. Gilmore
- , Emily E. Hardisty
- , Anne D. Lyerly
- , Christine Rini
- & Neeta L. Vora
-
Article |
Evaluating the resource implications of different service delivery models for offering additional genomic findings
- Martin Vu
- , Koen Degeling
- , Melissa Martyn
- , Elly Lynch
- , Belinda Chong
- , Clara Gaff
- & Maarten J. IJzerman
-
Article |
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
- Xinying Hong
- , Jessica Daiker
- , Martin Sadilek
- , Nicole Ruiz-Schultz
- , Arun Babu Kumar
- , Stevie Norcross
- , Warunee Dansithong
- , Teryn Suhr
- , Maria L. Escolar
- , C. Ronald Scott
- , Andreas Rohrwasser
- & Michael H. Gelb
-
In This Issue |
In This Issue
-
News |
News
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Article
| Open AccessCardiovascular risk factors and body composition in adults with achondroplasia
- Svein O. Fredwall
- , Jennifer Linge
- , Olof Dahlqvist Leinhard
- , Lisa Kjønigsen
- , Heidi Beate Eggesbø
- , Harald Weedon-Fekjær
- , Ingeborg Beate Lidal
- , Grethe Månum
- , Ravi Savarirayan
- & Serena Tonstad
-
Article
| Open AccessHigh-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening
- Noah C. Welker
- , Albert K. Lee
- , Rachel A. S. Kjolby
- , Helen Y. Wan
- , Mark R. Theilmann
- , Diana Jeon
- , James D. Goldberg
- , Kevin R. Haas
- , Dale Muzzey
- & Clement S. Chu
-
Article |
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
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Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease
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Correction |
Correction: A randomized controlled trial of an online health tool about Down syndrome
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Correspondence |
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Brief Communication
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Impact of integrated translational research on clinical exome sequencing
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
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Analysis of laboratory reporting practices using a quality assessment of a virtual patient
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Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening
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Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies
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Correction: Long-awaited progress in addressing genetic discrimination in the United States
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Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology
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Article
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Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
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Dopachrome tautomerase variants in patients with oculocutaneous albinism
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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science
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Correspondence on “Aminoacyl-tRNA synthetase deficiencies in search of common themes” by Fuchs et al.
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The role of clinical response to treatment in determining pathogenicity of genomic variants
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| Open AccessIntegration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance
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| Open AccessCross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies
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