3 research outputs found
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
- Author
- A. Bacino
- Adam P. Liebendorder
- Alan H. Beggs
- Alanna E. Koehler
- Alec A. Weech
- Alejandro E. Mercedes
- Alexa T. McCray
- Alexander Hoischen
- Alexandra J. McCarty
- Allyn McConkie-Rosell
- Anastasia L. Wise
- Andrea L. Gropman
- Angela L. Jones
- Anna C. Need
- Annika M. Dries
- Ariane G. Soldatos
- Ashok Balasubramanyam
- Azamian S. Mashid
- Bainbridge
- Balasubramani
- Barbara Burton
- Barbara N. Pusey
- Baskind
- Bohring
- Bolger
- Braden E. Boone
- Brenda Iglesias
- Brendan H. Lee
- Brett H. Graham
- Brunner
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Carson R. Loomis
- Casey Martin
- Catherine A. Groden
- Cecilia Esteves
- Chen
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Christine M. Shuss
- Christopher J. Adams
- Chyau Yueh C. Lau
- Colleen E. Wahl
- Constance T.R.M. Stumpel
- Cynthia J. Tifft
- Cynthia M. Cooper
- Dan C. Dorset
- Daryl A. Scott
- Daryl M. Waggott
- David A. Sweetser
- David B. Goldstein
- David B. Goldstein
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- de Ligt
- De Rubeis
- Denise J. Levy
- Donna M. Brown
- Donna M. Krasnewich
- Donna M. Muzny
- Donna Novacic
- Edwin K. Silverman
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Krieg
- Ellen F. Macnamara
- Eric Vilain
- Esteban C. Dell Angelica
- Euan A. Ashley
- Fanny Kortüm
- Farber
- Fisher
- Gary D. Clark
- Gretchen A. Golas
- Guoyun Yu
- Hane Lee
- Hayk Barseghyan
- Heather M. McLaughlin
- Hoischen
- Howard J. Jacob
- Hugo J. Bellen
- Ingrid A. Holm
- Isabel Hardee
- Issac S. Kohane
- Izawa
- J. Scott Newberry
- Jane S. Bellet
- Janet S. Sinsheimer
- Jean M. Johnston
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Posey
- Jennifer L. Murphy
- Jill A. Rosenfeld
- Joan M. Stoler
- Joe Lazar
- Joel B. Krier
- John A. Phillips
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- Jonathan A. Bernstein
- Jordan S. Orange
- Joseph Loscalzo
- Joy D. Cogan
- Juan C. Pallais
- Jyoti G. Dayal
- Karin Oberndorff
- Kate Frost
- Katherine E. Schaffer
- Katherine Kim
- Katherine R. Chao
- Katoh
- Katoh
- Katoh
- Katrina M. Dipple
- Kelly Schoch
- Kelly Schoch
- Khan
- Kim A. Strong
- Kimberly Splinter
- Lai
- Lance H. Rodan
- Laura A. Mamounas
- Laurel A. Donnell-Fink
- Lauren C. Briere
- Lea Latham
- Lek
- Lelieveld
- Lindsay C. Burrage
- Lisa T. Emrick
- Loren D.M. Pena
- Loren D.M. Pena
- Lori H. Handley
- Lorraine Potocki
- Lynne A. Wolfe
- MacArthur
- Magdalena Walkiewicz
- Mahim Jain
- Maja Hempel
- Malik Alawi
- Mariska Davids
- Martha Ann Keels
- Mary E. Hackbarth
- Mary G. Gordon
- Matt T. Wheeler
- Matthew Might
- Matthew R. Herzog
- May V. Malicdan
- Maysantoine El-Dairi
- Megan Butler
- Megan Cho
- Melanie J. Bonner
- Metzeler
- Michael F. Wangler
- Michael S. Freemark
- Michele E. Nehrebecky
- Mike Warburton
- Mitchell Goheen
- Mitja I. Kurki
- Molly C. Schroeder
- Monte Westerfield
- Naghmeh Dorrani
- Nathanial J. Tolman
- Neil A. Hanchard
- Nicholas Stong
- Nicholas Stong
- Nicole M. Walley
- Olli Pietilainen
- Outi Kuismin
- Palotie Aarno
- Paolo M. Moretti
- Park
- Park
- Patricia A. Ward
- Patricia A. Zornio
- Patrick Allard
- Paul G. Fisher
- Paul Mazur
- Paul R. Lee
- Peter G. Kranz
- Prashant Sharma
- Rachel B. Ramoni
- Ramocki
- Rebecca C. Spillmann
- Rena A. Godfrey
- Rene Santer
- Richard A. Lewis
- Richard L. Maas
- Richards
- Rizwan Hamid
- Ropers
- Russell
- Russell
- Sara P. Thomas
- Sarah K. Nicholas
- Sarah Sadozai
- Satu Korpi-Heikkilä
- Scott E. Hickey
- Seema R. Lalani
- Sharyn A. Lincoln
- Shawn E. Levy
- Shinya Yamamoto
- Shweta U. Dhar
- Slavé Petrovski
- Sobreira
- Stan F. Nelson
- Sylvia Klinkenberg
- Tanaka
- Teri A. Manolio
- Thomas C. Markello
- Thomas O. Metz
- Tran A. Alyssa
- Trevor S. Frisby
- Tyra Estwick
- Valerie Gartner
- Valerie V. Maduro
- Vandana Shashi
- Vandana Shashi
- Ware
- William A. Gahl
- William J. Craigen
- Yang
- Yaping Yang
- Yong-hui Jiang
- Yvonne L. Latour
- Zaheer M. Valivullah
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
No full textThe Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
- Author
- Adam P. Liebendorder
- Adams
- Alan H. Beggs
- Alanna E. Koehler
- Alec A. Weech
- Alexa T. McCray
- Alexa T. McCray
- Alexandra J. McCarty
- Allyn McConkie-Rosell
- Alyssa A. Tran
- Amy K. Robertson
- Anastasia L. Wise
- Anastasia L. Wise
- Andrea L. Gropman
- Angela L. Jones
- Anna Bican
- Annika M. Dries
- Ariane G. Soldatos
- Ashok Balasubramanyam
- Barbara N. Pusey
- Bearn
- Beaulieu
- Bobbie-Jo M. Webb-Robertson
- Braden E. Boone
- Brenda Iglesias
- Brendan H. Lee
- Brett H. Graham
- Brownstein
- Buske
- C. Christopher Lau
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Carlos A. Bacino
- Carson R. Loomis
- Casey Martin
- Catherine A. Brownstein
- Catherine A. Groden
- Cecilia Esteves
- Childs
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Christopher J. Adams
- Colleen E. Wahl
- Collins
- Cynthia J. Tifft
- Cynthia J. Tifft
- Cynthia M. Cooper
- Daniel C. Dorset
- Daryl A. Scott
- Daryl M. Waggott
- David A. Sweetser
- David B. Goldstein
- David Bernick
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- David R. Adams
- Denise J. Levy
- Donna M. Brown
- Donna M. Krasnewich
- Donna M. Muzny
- Donna Novacic
- Edwin K. Silverman
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Krieg
- Ellen F. Macnamara
- Ellen M. Howerton
- Eric Vilain
- Esteban C. Dell’Angelica
- Euan A. Ashley
- Euan A. Ashley
- Faden
- Gahl
- Gahl
- Gahl
- Gary D. Clark
- Girdea
- Gretchen A. Golas
- Guoyun Yu
- Hane Lee
- Hayk Barseghyan
- Howard J. Jacob
- Hugo J. Bellen
- Ingrid A. Holm
- Isaac S. Kohane
- Isabel Hardee
- J. Carl Pallais
- J. Scott Newberry
- Janet S. Sinsheimer
- Jean M. Johnston
- Jean-Philippe F. Gourdine
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Kyle
- Jennifer E. Posey
- Jennifer L. Murphy
- Jill A. Rosenfeld
- Joan M. Stoler
- Joel B. Krier
- John A. Phillips
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- John J. Mulvihill
- Jonathan A. Bernstein
- Jonathan A. Bernstein
- Jordan S. Orange
- Joseph Loscalzo
- Joseph Loscalzo
- Joy D. Cogan
- Jozef Lazar
- Jyoti G. Dayal
- Kass
- Kate Frost
- Katherine E. Schaffer
- Katherine R. Chao
- Katrina M. Dipple
- Katrina M. Waters
- Kelly Schoch
- Kimberly A. Strong
- Kimberly Splinter
- Köhler
- Lance H. Rodan
- Laura A. Mamounas
- Laurel A. Donnell-Fink
- Lauren C. Briere
- Lea Latham
- Lindsay C. Burrage
- Lisa T. Emrick
- Loren D.M. Pena
- Lori H. Handley
- Lorraine Potocki
- Lynne A. Wolfe
- Mahim Jain
- Mariska Davids
- Mary E. Hackbarth
- Mary “Gracie” G. Gordon
- Mashid S. Azamian
- Matthew Brush
- Matthew Might
- Matthew R. Herzog
- Matthew T. Wheeler
- May Christine V. Malicdan
- Melissa Haendel
- Mercedes E. Alejandro
- Michael F. Wangler
- Michele E. Nehrebecky
- Might
- Mike Warburton
- Miller
- Miller
- Mitchell Goheen
- Molly C. Schroeder
- Monte Westerfield
- Mulvihill
- Naghmeh Dorrani
- Nathanial J. Tolman
- Neil A. Hanchard
- Ng
- Nicholas Stong
- Nicole M. Walley
- Paolo M. Moretti
- Patricia A. Ward
- Patricia A. Zornio
- Patrick Allard
- Patrick Allard
- Paul G. Fisher
- Paul Mazur
- Paul R. Lee
- Petrovski
- Philippakis
- Prashant Sharma
- Rachel B. Ramoni
- Rachel B. Ramoni
- Rachel Eastwood
- Rebecca C. Spillmann
- Rehman
- Rena A. Godfrey
- Richard A. Lewis
- Richard L. Maas
- Rios
- Rizwan Hamid
- Rizwan Hamid
- Robinson
- Robinson
- Sadat
- Sara P. Thomas
- Sarah E. Gould
- Sarah K. Nicholas
- Sarah Sadozai
- Seema R. Lalani
- Sharyn A. Lincoln
- Shawn E. Levy
- Shinya Yamamoto
- Shweta U. Dhar
- Singh
- Stan F. Nelson
- Taruscio
- Teri A. Manolio
- Thomas C. Markello
- Thomas O. Metz
- Trevor S. Frisby
- Tryka
- Tyra Estwick
- Valerie Gartner
- Valerie V. Maduro
- Vandana Shashi
- Vandana Shashi
- Walsh
- William A. Gahl
- William A. Gahl
- William J. Craigen
- Yaping Yang
- Yong-hui Jiang
- Yvonne L. Latour
- Zaheer M. Valivullah
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
No full textA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
- Author
- Acuna-Hidalgo
- Adam P. Liebendorder
- Alan H. Beggs
- Alanna E. Koehler
- Alec A. Weech
- Alexa T. McCray
- Alexandra J. McCarty
- Allen
- Allyn McConkie-Rosell
- Allyn McConkie-Rosell
- Alyssa A. Tran
- Amy K. Robertson
- Anastasia L. Wise
- Andrea L. Gropman
- Angela L. Jones
- Anna Bican
- Annika M. Dries
- Ariane G. Soldatos
- Asbjorg Stray-Pedersen
- Ashok Balasubramanyam
- Azamian S. Mashid
- Barbara N. Pusey
- Blanchard
- Bobbie-Jo M. Webb-Robertson
- Braden E. Boone
- Brendan H. Lee
- Brett H. Graham
- C. Christopher Lau
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Cara M. Skraban
- Carlos A. Bacino
- Carson R. Loomis
- Catherine A. Groden
- Cecilia Esteves
- Chong
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Christopher J. Adams
- Colleen E. Wahl
- Cooper
- Cynthia J. Tifft
- Cynthia M. Cooper
- Dan C. Dorset
- Daryl A. Scott
- Daryl M. Waggott
- David A. Sweetser
- David B. Goldstein
- David B. Goldstein
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- David R. Bearden
- de Ligt
- de Ligt
- Deeksha Bali
- Denise J. Levy
- Donna M. Brown
- Donna M. Krasnewich
- Donna M. Muzny
- Donna Novacic
- Edwin K. Silverman
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Krieg
- Ellen F. Macnamara
- Ellen M. Howerton
- Endele
- Eric Vilain
- Eric Vilain
- Eriskay Liston
- Esteban C. Dell’Angelica
- Euan A. Ashley
- Fabiola Quintero-Rivera
- Fernando Scaglia
- Francioli
- Francisca Millan
- Freed
- Gary D. Clark
- Gauthier
- Gilissen
- Gonzaga-Jauregui
- Gretchen A. Golas
- Guoyun Yu
- Hane Lee
- Hane Lee
- Hane Lee
- Hayk Barseghyan
- Hernández-Porras
- Howard J. Jacob
- Hugo J. Bellen
- Ingrid A. Holm
- Iossifov
- Iossifov
- Isaac S. Kohane
- Isabel Hardee
- Ishibashi
- Ishikawa
- J. Carl Pallais
- J. Scott Newberry
- James R. Lupski
- Janet S. Sinsheimer
- Jean M. Johnston
- Jean-Philippe F. Gourdine
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Kyle
- Jennifer E. Posey
- Jennifer E. Posey
- Jennifer L. Murphy
- Jennifer Tarpinian
- Jeremy N. Friedman
- Jill A. Rosenfeld
- Jill A. Rosenfeld
- Joan Jasien
- Joan M. Stoler
- Joel B. Krier
- John A. Phillips
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- Jonathan A. Bernstein
- Jordan S. Orange
- Jorge
- Joseph Loscalzo
- Joshua Deignan
- Joy D. Cogan
- Jozef Lazar
- Julian A. Martinez-Agosto
- Jyoti G. Dayal
- Kate Frost
- Katherine E. Schaffer
- Katherine R. Chao
- Katrina M. Dipple
- Katrina M. Waters
- Kelly Schoch
- Kelly Schoch
- Kimberly A. Strong
- Kimberly Splinter
- Kircher
- Korutla
- Korutla
- Korutla
- Krkljus
- Lance H. Rodan
- Laura A. Mamounas
- Laurel A. Donnell-Fink
- Lauren C. Briere
- Lea Latham
- Lee
- Lee
- Lek
- Lindsay C. Burrage
- Linyan Meng
- Lisa T. Emrick
- Loren D.M. Pena
- Lori H. Handley
- Lorraine Potocki
- Lynne A. Wolfe
- MacDonald
- Mahim Jain
- Marie McDonald
- Mariska Davids
- Mary E. Hackbarth
- Mary “Gracie” G. Gordon
- Matt T. Wheeler
- Matthew A. Deardorff
- Matthew Brush
- Matthew Might
- Matthew R. Herzog
- May Christine V. Malicdan
- Melissa Haendel
- Mercedes E. Alejandro
- Michael F. Wangler
- Michael F. Wangler
- Michael Freemark
- Michele E. Nehrebecky
- Mike Warburton
- Mitchell Goheen
- Mohamad A. Mikati
- Molly C. Schroeder
- Monte Westerfield
- Naghmeh Dorrani
- Naghmeh Dorrani
- Naghmeh Dorrani
- Nakayama
- Nakayama
- Nathanial J. Tolman
- Neil A. Hanchard
- Nicholas Stong
- Nicholas Stong
- Nicole M. Walley
- Nicole Walley
- Nimmakayalu
- Ohba
- Oyvind L. Busk
- Paolo M. Moretti
- Patricia A. Ward
- Patricia A. Zornio
- Patrick Allard
- Paul G. Fisher
- Paul Mazur
- Paul R. Lee
- Peter G. Kranz
- Petrovski
- Prashant Sharma
- Rachel B. Ramoni
- Rebecca C. Spillmann
- Rena A. Godfrey
- Richard A. Lewis
- Richard L. Maas
- Rivière
- Rizwan Hamid
- Robinson
- Ronald D. Cohn
- Rui Xiao
- Samuel P. Strom
- Sara P. Thomas
- Sarah E. Gould
- Sarah K. Nicholas
- Sarah Sadozai
- Scofield
- Seema R. Lalani
- Sharon Freedman
- Sharyn A. Lincoln
- Shashi
- Shawn E. Levy
- Sherri Bale
- Shih
- Shinya Yamamoto
- Shweta U. Dhar
- Sibel Kantarci
- Sobreira
- Stan F. Nelson
- Stanley F. Nelson
- Stanley F. Nelson
- Stephanie Burns Wechsler
- Stevenson
- Sujay Kansagra
- Sung-Hae Kang
- Sureni Mullegama
- Szabolcs Szelinger
- Szabolcs Szelinger
- Teri A. Manolio
- Thomas C. Markello
- Thomas O. Metz
- Trevor S. Frisby
- Tyra Estwick
- Valerie Gartner
- Valerie V. Maduro
- Vandana Shashi
- Vandana Shashi
- Veltman
- Wayne W. Grody
- White
- William A. Gahl
- William J. Craigen
- Yang
- Yap
- Yap
- Yaping Yang
- Yaping Yang
- Yeasmin
- Yong-hui Jiang
- Yvonne L. Latour
- Zaheer M. Valivullah
- Zeynep Coban Akdemir
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
No full text
