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Research |
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
- Shereen G. Ghosh
- , Marcello Scala
- , Christian Beetz
- , Guy Helman
- , Valentina Stanley
- , Xiaoxu Yang
- , Martin W. Breuss
- , Neda Mazaheri
- , Laila Selim
- , Fatemeh Hadipour
- , Lynn Pais
- , Chloe A. Stutterd
- , Vasiliki Karageorgou
- , Amber Begtrup
- , Amy Crunk
- , Jane Juusola
- , Rebecca Willaert
- , Leigh A. Flore
- , Kelly Kennelly
- , Christopher Spencer
- , Martha Brown
- , Pamela Trapane
- , Anna C. E. Hurst
- , S. Lane Rutledge
- , Dana H. Goodloe
- , Marie T. McDonald
- , Vandana Shashi
- , Kelly Schoch
- , Hoda Tomoum
- , Raghda Zaitoun
- , Zahra Hadipour
- , Hamid Galehdari
- , Alistair T. Pagnamenta
- , Majid Mojarrad
- , Alireza Sedaghat
- , Patrícia Dias
- , Sofia Quintas
- , Atiyeh Eslahi
- , Gholamreza Shariati
- , Peter Bauer
- , Cas Simons
- , Henry Houlden
- , Mahmoud Y. Issa
- , Maha S. Zaki
- , Reza Maroofian
- & Joseph G. Gleeson
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Amendments and Corrections |
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
- Magdalena Koczkowska
- , Tom Callens
- , Alicia Gomes
- , Angela Sharp
- , Yunjia Chen
- , Alesha D. Hicks
- , Arthur S. Aylsworth
- , Amedeo A. Azizi
- , Donald G. Basel
- , Gary Bellus
- , Lynne M. Bird
- , Maria A. Blazo
- , Leah W. Burke
- , Ashley Cannon
- , Felicity Collins
- , Colette DeFilippo
- , Ellen Denayer
- , Maria C. Digilio
- , Shelley K. Dills
- , Laura Dosa
- , Robert S. Greenwood
- , Cristin Griffis
- , Punita Gupta
- , Rachel K. Hachen
- , Concepción Hernández-Chico
- , Sandra Janssens
- , Kristi J. Jones
- , Justin T. Jordan
- , Peter Kannu
- , Bruce R. Korf
- , Andrea M. Lewis
- , Robert H. Listernick
- , Fortunato Lonardo
- , Maurice J. Mahoney
- , Mayra Martinez Ojeda
- , Marie T. McDonald
- , Carey McDougall
- , Nancy Mendelsohn
- , David T. Miller
- , Mari Mori
- , Rianne Oostenbrink
- , Sebastién Perreault
- , Mary Ella Pierpont
- , Carmelo Piscopo
- , Dinel A. Pond
- , Linda M. Randolph
- , Katherine A. Rauen
- , Surya Rednam
- , S. Lane Rutledge
- , Veronica Saletti
- , G. Bradley Schaefer
- , Elizabeth K. Schorry
- , Daryl A. Scott
- , Andrea Shugar
- , Elizabeth Siqveland
- , Lois J. Starr
- , Ashraf Syed
- , Pamela L. Trapane
- , Nicole J. Ullrich
- , Emily G. Wakefield
- , Laurence E. Walsh
- , Michael F. Wangler
- , Elaine Zackai
- , Kathleen B. M. Claes
- , Katharina Wimmer
- , Rick van Minkelen
- , Alessandro De Luca
- , Yolanda Martin
- , Eric Legius
- & Ludwine M. Messiaen
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Research |
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Research | | Open
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
- Magdalena Koczkowska
- , Tom Callens
- , Alicia Gomes
- , Angela Sharp
- , Yunjia Chen
- , Alesha D. Hicks
- , Arthur S. Aylsworth
- , Amedeo A. Azizi
- , Donald G. Basel
- , Gary Bellus
- , Lynne M. Bird
- , Maria A. Blazo
- , Leah W. Burke
- , Ashley Cannon
- , Felicity Collins
- , Colette DeFilippo
- , Ellen Denayer
- , Maria C. Digilio
- , Shelley K. Dills
- , Laura Dosa
- , Robert S. Greenwood
- , Cristin Griffis
- , Punita Gupta
- , Rachel K. Hachen
- , Concepción Hernández-Chico
- , Sandra Janssens
- , Kristi J. Jones
- , Justin T. Jordan
- , Peter Kannu
- , Bruce R. Korf
- , Andrea M. Lewis
- , Robert H. Listernick
- , Fortunato Lonardo
- , Maurice J. Mahoney
- , Mayra Martinez Ojeda
- , Marie T. McDonald
- , Carey McDougall
- , Nancy Mendelsohn
- , David T. Miller
- , Mari Mori
- , Rianne Oostenbrink
- , Sebastién Perreault
- , Mary Ella Pierpont
- , Carmelo Piscopo
- , Dinel A. Pond
- , Linda M. Randolph
- , Katherine A. Rauen
- , Surya Rednam
- , S. Lane Rutledge
- , Veronica Saletti
- , G. Bradley Schaefer
- , Elizabeth K. Schorry
- , Daryl A. Scott
- , Andrea Shugar
- , Elizabeth Siqveland
- , Lois J. Starr
- , Ashraf Syed
- , Pamela L. Trapane
- , Nicole J. Ullrich
- , Emily G. Wakefield
- , Laurence E. Walsh
- , Michael F. Wangler
- , Elaine Zackai
- , Kathleen B. M. Claes
- , Katharina Wimmer
- , Rick van Minkelen
- , Alessandro De Luca
- , Yolanda Martin
- , Eric Legius
- & Ludwine M. Messiaen
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Research |
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Research |
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
- David M S McHugh
- , Cynthia A Cameron
- , Jose E Abdenur
- , Mahera Abdulrahman
- , Ona Adair
- , Shahira Ahmed Al Nuaimi
- , Henrik Åhlman
- , Jennifer J Allen
- , Italo Antonozzi
- , Shaina Archer
- , Sylvia Au
- , Christiane Auray-Blais
- , Mei Baker
- , Fiona Bamforth
- , Kinga Beckmann
- , Gessi Bentz Pino
- , Stanton L Berberich
- , Robert Binard
- , François Boemer
- , Jim Bonham
- , Nancy N Breen
- , Sandra C Bryant
- , Michele Caggana
- , S Graham Caldwell
- , Marta Camilot
- , Carlene Campbell
- , Claudia Carducci
- , Rohit Cariappa
- , Clover Carlisle
- , Ubaldo Caruso
- , Michela Cassanello
- , Ane Miren Castilla
- , Daisy E Castiñeiras Ramos
- , Pranesh Chakraborty
- , Ram Chandrasekar
- , Alfredo Chardon Ramos
- , David Cheillan
- , Yin-Hsiu Chien
- , Thomas A Childs
- , Petr Chrastina
- , Yuri Cleverthon Sica
- , Jose Angel Cocho de Juan
- , Maria Elena Colandre
- , Veronica Cornejo Espinoza
- , Gaetano Corso
- , Robert Currier
- , Denis Cyr
- , Noemi Czuczy
- , Oceania D'Apolito
- , Tim Davis
- , Monique G de Sain-Van der Velden
- , Carmen Delgado Pecellin
- , Iole Maria Di Gangi
- , Cristina Maria Di Stefano
- , Yannis Dotsikas
- , Melanie Downing
- , Stephen M Downs
- , Bonifacio Dy
- , Mark Dymerski
- , Inmaculada Rueda
- , Bert Elvers
- , Roger Eaton
- , Barbara M Eckerd
- , Fatma El Mougy
- , Sarah Eroh
- , Mercedes Espada
- , Catherine Evans
- , Sandy Fawbush
- , Kristel F Fijolek
- , Lawrence Fisher
- , Leifur Franzson
- , Dianne M Frazier
- , Luciana R C Garcia
- , Maria Sierra García-Valdecasas Bermejo
- , Dimitar Gavrilov
- , Rosemarie Gerace
- , Giuseppe Giordano
- , Yolanda González Irazabal
- , Lawrence C Greed
- , Robert Grier
- , Elyse Grycki
- , Xuefan Gu
- , Fizza Gulamali-Majid
- , Arthur F Hagar
- , Lianshu Han
- , W Harry Hannon
- , Christa Haslip
- , Fayza Abdelhamid Hassan
- , Miao He
- , Amy Hietala
- , Leslie Himstedt
- , Gary L Hoffman
- , William Hoffman
- , Philis Hoggatt
- , Patrick V Hopkins
- , David M Hougaard
- , Kerie Hughes
- , Patricia R Hunt
- , Wuh-Liang Hwu
- , June Hynes
- , Isabel Ibarra-González
- , Cindy A Ingham
- , Maria Ivanova
- , Ward B Jacox
- , Catharine John
- , John P Johnson
- , Jón j Jónsson
- , Eszter Karg
- , David Kasper
- , Brenda Klopper
- , Dimitris Katakouzinos
- , Issam Khneisser
- , Detlef Knoll
- , Hirinori Kobayashi
- , Ronald Koneski
- , Viktor Kožich
- , Rasoul Kouapei
- , Dirk Kohlmueller
- , Ivo Kremensky
- , Giancarlo la Marca
- , Marcia Lavochkin
- , Soo-Youn Lee
- , Denis C Lehotay
- , Aida Lemes
- , Joyce Lepage
- , Barbara Lesko
- , Barry Lewis
- , Carol Lim
- , Sharon Linard
- , Martin Lindner
- , Michele A Lloyd-Puryear
- , Fred Lorey
- , Yannis L Loukas
- , Julie Luedtke
- , Neil Maffitt
- , J Fergall Magee
- , Adrienne Manning
- , Shawn Manos
- , Sandrine Marie
- , Sônia Marchezi Hadachi
- , Gregg Marquardt
- , Stephen J Martin
- , Dietrich Matern
- , Stephanie K Mayfield Gibson
- , Philip Mayne
- , Tonya D McCallister
- , Mark McCann
- , Julie McClure
- , James J McGill
- , Christine D McKeever
- , Barbara McNeilly
- , Mark A Morrissey
- , Paraskevi Moutsatsou
- , Eleanor A Mulcahy
- , Dimitris Nikoloudis
- , Bent Norgaard-Pedersen
- , Devin Oglesbee
- , Mariusz Oltarzewski
- , Daniela Ombrone
- , Jelili Ojodu
- , Vagelis Papakonstantinou
- , Sherly Pardo Reoyo
- , Hyung-Doo Park
- , Marzia Pasquali
- , Elisabetta Pasquini
- , Pallavi Patel
- , Kenneth A Pass
- , Colleen Peterson
- , Rolf D Pettersen
- , James J Pitt
- , Sherry Poh
- , Arnold Pollak
- , Cory Porter
- , Philip A Poston
- , Ricky W Price
- , Cecilia Queijo
- , Jonessy Quesada
- , Edward Randell
- , Enzo Ranieri
- , Kimiyo Raymond
- , John E Reddic
- , Alejandra Reuben
- , Charla Ricciardi
- , Piero Rinaldo
- , Jeff D Rivera
- , Alicia Roberts
- , Hugo Rocha
- , Geraldine Roche
- , Cheryl Rochman Greenberg
- , José María Egea Mellado
- , María Jesús Juan-Fita
- , Consuelo Ruiz
- , Margherita Ruoppolo
- , S Lane Rutledge
- , Euijung Ryu
- , Christine Saban
- , Inderneel Sahai
- , Maria Isabel Salazar García-Blanco
- , Pedro Santiago-Borrero
- , Andrea Schenone
- , Roland Schoos
- , Barb Schweitzer
- , Patricia Scott
- , Margretta R Seashore
- , Mary A Seeterlin
- , David E Sesser
- , Darrin W Sevier
- , Scott M Shone
- , Graham Sinclair
- , Victor A Skrinska
- , Eleanor L Stanley
- , Erin T Strovel
- , April L Studinski Jones
- , Sherlykutty Sunny
- , Zoltan Takats
- , Tijen Tanyalcin
- , Francesca Teofoli
- , J Robert Thompson
- , Kathy Tomashitis
- , Mouseline Torquado Domingos
- , Jasmin Torres
- , Rosario Torres
- , Silvia Tortorelli
- , Sandor Turi
- , Kimberley Turner
- , Nick Tzanakos
- , Alf G Valiente
- , Hillary Vallance
- , Marcela Vela-Amieva
- , Laura Vilarinho
- , Ulrika von Döbeln
- , Marie-Francoise Vincent
- , B Chris Vorster
- , Michael S Watson
- , Dianne Webster
- , Sheila Weiss
- , Bridget Wilcken
- , Veronica Wiley
- , Sharon K Williams
- , Sharon A Willis
- , Michael Woontner
- , Katherine Wright
- , Raquel Yahyaoui
- , Seiji Yamaguchi
- , Melissa Yssel
- & Wendy M Zakowicz
