Showing 1–10 of 10 results
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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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Research |
Impact of integrated translational research on clinical exome sequencing
- Eric W. Klee
- , Margot A. Cousin
- , Filippo Pinto e Vairo
- , Joel A. Morales-Rosado
- , Erica L. Macke
- , W. Garrett Jenkinson
- , Alejandro Ferrer
- , Laura E. Schultz-Rogers
- , Rory J. Olson
- , Gavin R. Oliver
- , Ashley N. Sigafoos
- , Tanya L. Schwab
- , Michael T. Zimmermann
- , Raul A. Urrutia
- , Charu Kaiwar
- , Aditi Gupta
- , Patrick R. Blackburn
- , Nicole J. Boczek
- , Carri A. Prochnow
- , Rebecca J. Lowy
- , Lindsay A. Mulvihill
- , Tammy M. McAllister
- , Stacy L. Aoudia
- , Teresa M. Kruisselbrink
- , Lauren B. Gunderson
- , Jennifer L. Kemppainen
- , Laura J. Fisher
- , Jessica M. Tarnowski
- , Megan M. Hager
- , Sarah A. Kroc
- , Nicole L. Bertsch
- , Katherine E. Agre
- , Jessica L. Jackson
- , Sarah K. Macklin-Mantia
- , Marine I. Murphree
- , Laura M. Rust
- , Jolene M. Summer Bolster
- , Scott A. Beck
- , Paldeep S. Atwal
- , Marissa S. Ellingson
- , Sarah S. Barnett
- , Kristen J. Rasmussen
- , Carrie A. Lahner
- , Zhiyv Niu
- , Linda Hasadsri
- , Matthew J. Ferber
- , Cherisse A. Marcou
- , Karl J. Clark
- , Pavel N. Pichurin
- , David R. Deyle
- , Eva Morava-Kozicz
- , Ralitza H. Gavrilova
- , Radhika Dhamija
- , Klaas J. Wierenga
- , Brendan C. Lanpher
- , Dusica Babovic-Vuksanovic
- , Gianrico Farrugia
- , Lisa A. Schimmenti
- , A. Keith Stewart
- & Konstantinos N. Lazaridis
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Research |
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Research |
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Research |
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Research |
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Research |
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Research |
Variants in DOCK3 cause developmental delay and hypotonia
- Kimberly Wiltrout
- , Alejandro Ferrer
- , Ingrid van de Laar
- , Kazuhiko Namekata
- , Takayuki Harada
- , Eric W. Klee
- , Michael T. Zimmerman
- , Margot A. Cousin
- , Jennifer L. Kempainen
- , Dusica Babovic-Vuksanovic
- , Marjon A. van Slegtenhorst
- , Coranne D. Aarts-Tesselaar
- , Rhonda E. Schnur
- , Marisa Andrews
- & Marwan Shinawi
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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 |
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
- Arkadiusz Piotrowski
- , Jing Xie
- , Ying F Liu
- , Andrzej B Poplawski
- , Alicia R Gomes
- , Piotr Madanecki
- , Chuanhua Fu
- , Michael R Crowley
- , David K Crossman
- , Linlea Armstrong
- , Dusica Babovic-Vuksanovic
- , Amanda Bergner
- , Jaishri O Blakeley
- , Andrea L Blumenthal
- , Molly S Daniels
- , Howard Feit
- , Kathy Gardner
- , Stephanie Hurst
- , Christine Kobelka
- , Chung Lee
- , Rebecca Nagy
- , Katherine A Rauen
- , John M Slopis
- , Pim Suwannarat
- , Judith A Westman
- , Andrea Zanko
- , Bruce R Korf
- & Ludwine M Messiaen
