A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder | Zendy

Suma P. Shankar | Zendy; Kristin Grimsrud | Zendy; Louise Lanoue | Zendy; Alena Egense | Zendy; Brandon Willis | Zendy; Johanna Hörberg | Zendy; Lama AlAbdi | Zendy; Klaus Mayer | Zendy; Koray Ütkür | Zendy; Kristin G. Monaghan | Zendy; Joel B. Krier | Zendy; Joan M. Stoler | Zendy; Maha Alnemer | Zendy; Prabhu Shankar | Zendy; Raffael Schaffrath | Zendy; Fowzan S. Alkuraya | Zendy; Ulrich Brinkmann | Zendy; Leif A. Eriksson | Zendy; K. C. Kent Lloyd | Zendy; Katherine A. Rauen | Zendy; Maria T. Acosta | Zendy; Margaret P Adam | Zendy; David R. Adams | Zendy; Justin Alvey | Zendy; Laura M. Amendola | Zendy; Ashley Andrews | Zendy; Euan A. Ashley | Zendy; Mahshid S. Azamian | Zendy; Carlos A. Bacino | Zendy; Güney Bademci | Zendy; Ashok Balasubramanyam | Zendy; Dustin Baldridge | Zendy; Jim Bale | Zendy; Michael Bamshad | Zendy; Deborah Barbouth | Zendy; Pınar BayrakToydemir | Zendy; Anita Beck | Zendy; Alan H. Beggs | Zendy; Edward M. Behrens | Zendy; Gill Bejerano | Zendy; Jimmy Bennet | Zendy; Beverly Berg-Rood | Zendy; Jonathan A. Bernstein | Zendy; Gerard T. Berry | Zendy; Anna Bican | Zendy; Stephanie Bivona | Zendy; Elizabeth Blue | Zendy; John Bohnsack | Zendy; Devon Bonner | Zendy; Lorenzo D. Botto | Zendy; Brenna Boyd | Zendy; Lauren C. Briere | Zendy; Elly Brokamp | Zendy; Gabrielle Brown | Zendy; Elizabeth A. Burke | Zendy; Lindsay C. Burrage | Zendy; Manish J. Butte | Zendy; Peter H. Byers | Zendy; William E. Byrd | Zendy; John M. Carey | Zendy; Olveen Carrasquillo | Zendy; Thomas Cassini | Zendy; Ta Chen Chang | Zendy; Sirisak Chanprasert | Zendy; HsiaoTuan Chao | Zendy; Gary Clark | Zendy; Terra R. Coakley | Zendy; Laurel A. Cobban | Zendy; Joy D. Cogan | Zendy; Matthew Coggins | Zendy; F. Sessions Cole | Zendy; Heather A. Colley | Zendy; Cynthia M. Cooper | Zendy; Heidi Cope | Zendy; William J. Craigen | Zendy; Andrew B. Crouse | Zendy; Michael Cunningham | Zendy; Precilla D’Souza | Zendy; Hongzheng Dai | Zendy; Surendra Dasari | Zendy; Joie Davis | Zendy; Jyoti G. Dayal | Zendy; Matthew A. Deardorff | Zendy; Esteban C. Dell’Angelica | Zendy; Katrina M. Dipple | Zendy; Daniel Doherty | Zendy; Naghmeh Dorrani | Zendy; Argenia L. Doss | Zendy; Emilie D. Douine | Zendy; Laura Duncan | Zendy; Dawn Earl | Zendy; David J. Eckstein | Zendy; Lisa Emrick | Zendy; Christine M. Eng | Zendy; Cecilia Esteves | Zendy; Marni J. Falk | Zendy; Liliana Fernández | Zendy; Elizabeth L. Fieg | Zendy; Paul G. Fisher | Zendy; Brent L. Fogel | Zendy; Irman Forghani | Zendy; William A. Gahl | Zendy; I. S. Glass | Zendy; Bernadette R. Gochuico | Zendy; Rena A. Godfrey | Zendy; Katie GoldenGrant | Zendy; Madison P. Goldrich | Zendy; Alana Grajewski | Zendy; Irma Gutierrez | Zendy; Don Hadley | Zendy; Sihoun Hahn | Zendy; Rizwan Hamid | Zendy; Kelly Hassey | Zendy; Nichole Hayes | Zendy; Frances High | Zendy; Anne Hing | Zendy; Fuki M. Hisama | Zendy; Ingrid A. Holm | Zendy; Jason Hom | Zendy; Martha HorikePyne | Zendy; Alden Huang | Zendy; Yong Huang | Zendy; Wendy J. Introne | Zendy; Rosario Isasi | Zendy; Kosuke Izumi | Zendy; Fariha Jamal | Zendy; Gail P. Jarvik | Zendy; Jeffrey G. Jarvik | Zendy; Suman Jayadev | Zendy; Orpa Jean-Marie | Zendy; Vaidehi Jobanputra | Zendy; Lefkothea Karaviti | Zendy; Jennifer A. Kennedy | Zendy; Shamika Ketkar | Zendy; Dana Kiley | Zendy; Gonench Kilich | Zendy; Shilpa N. Kobren | Zendy; Isaac S. Kohane | Zendy; Jennefer N. Kohler | Zendy; Deborah Krakow | Zendy; Donna M. Krasnewich | Zendy; Elijah Kravets | Zendy; Susan Korrick | Zendy; Mary Koziura | Zendy; Seema R. Lalani | Zendy; Byron Lam | Zendy; Christina Lam | Zendy; Grace L. LaMoure | Zendy; Brendan C. Lanpher | Zendy; Ian R. Lanza | Zendy; Kimberly LeBlanc | Zendy; Brendan Lee | Zendy; Roy C. Levitt | Zendy; Richard A. Lewis | Zendy; Pengfei Liu | Zendy; Xue Zhong Liu | Zendy; Nicola Longo | Zendy; Sandra K. Loo | Zendy; Joseph Loscalzo | Zendy; Richard L. Maas | Zendy; Ellen F. Macnamara | Zendy; Calum A. MacRae | Zendy; Valerie V. Maduro | Zendy; Bryan C. Mak | Zendy; May Christine V. Malicdan | Zendy; Laura A. Mamounas | Zendy; Teri A. Manolio | Zendy; Rong Mao | Zendy; Kenneth R. Maravilla | Zendy; Ronit Marom | Zendy; Gábor Marth | Zendy; Beth A. Martin | Zendy; Martin G. Martin | Zendy; Julián A. Martínez-Agosto | Zendy; Shruti Marwaha | Zendy; Jacob L. McCauley | Zendy; Allyn McConkieRosell | Zendy; Alexa T. McCray | Zendy; Elisabeth McGee | Zendy; Heather C. Mefford | Zendy; J. Lawrence Merritt | Zendy; Matthew Might | Zendy; Ghayda Mirzaa | Zendy; Éva Morava | Zendy; Paolo Moretti | Zendy; Mariko NakanoOkuno | Zendy; Stan F. Nelson | Zendy; John H. Newman | Zendy; Sarah K. Nicholas | Zendy; Deborah A. Nickerson | Zendy; Shirley NievesRodriguez | Zendy; Donovacic | Zendy; Devin Oglesbee | Zendy; James P. Orengo | Zendy; Laura Pace | Zendy; Stephen Pak | Zendy; J. Carl Pallais | Zendy; Christina G.S. Palmer | Zendy; Jeanette C. Papp | Zendy; Neil H. Parker | Zendy; John A. Phillips | Zendy; Jennifer E. Posey | Zendy; Lorraine Potocki | Zendy; Barbara N. Pusey | Zendy; Aaron R. Quinlan | Zendy; Wendy H. Raskind | Zendy; Archa. Raja | Zendy; Stephen C. Pak | Zendy; Anna Raper | Zendy; Genecee Renteria | Zendy; Chloe M. Reuter | Zendy; Lynette Rives | Zendy; Amy K. Robertson | Zendy; Lance H. Rodan | Zendy; Jill A. Rosenfeld | Zendy; Natalie Rosenwasser | Zendy; Francis Rossignol | Zendy; Maura Ruzhnikov | Zendy; Ralph L. Sacco | Zendy; Jacinda B. Sampson | Zendy; Mario Saporta | Zendy; C. Ron Scott | Zendy; Judy Schaechter | Zendy; Timothy Schedl | Zendy; Kelly Schoch | Zendy; Daryl A. Scott | Zendy; Vandana Shashi | Zendy; Jimann Shin | Zendy; Edwin K. Silverman | Zendy; Janet S. Sinsheimer | Zendy; Kathy Sisco | Zendy; Edward C. Smith | Zendy; Kevin S. Smith | Zendy; Emily Solem | Zendy; Lilianna SolnicaKrezel | Zendy; Ben Solomon | Zendy; Rebecca C. Spillmann | Zendy; Jennifer A. Sullivan | Zendy; Kathleen E. Sullivan | Zendy; Angela Sun | Zendy; Shirley Sutton | Zendy; David A. Sweetser | Zendy; Virginia P. Sybert | Zendy; Holly K. Tabor | Zendy; Amelia L.M. Tan | Zendy; K.-G. Queenie | Zendy; Mustafa Tekin Tan | Zendy; Fred Telischi | Zendy; Willa Thorson | Zendy; Cynthia J. Tifft | Zendy; Camilo Toro | Zendy; Alyssa A. Tran | Zendy; Brianna M. Tucker | Zendy; Tiina K. Urv | Zendy; Adeline Vanderver | Zendy; Matt Velinder | Zendy; Dave Viskochil | Zendy; Tiphanie P. Vogel | Zendy; Colleen E. Wahl | Zendy; Stephanie E Wallace | Zendy; Sophie Nicole | Zendy; Melissa Walker | Zendy; Jennifer Wambach | Zendy; Jijun Wan | Zendy; Lee-kai Wang | Zendy; Michael F. Wangler | Zendy; Patricia A. Ward | Zendy; Daniel Wegner | Zendy; Monika Weisz-Hubshman | Zendy; Mark H. Wener | Zendy; Tara Wenger | Zendy; Katherine Wesseling Perry | Zendy; Monte Westerfield | Zendy; Matthew T. Wheeler | Zendy; Jordan Whitlock | Zendy; Lynne A. Wolfe | Zendy; Kim C. Worley | Zendy; Changrui Xiao | Zendy; Shinya Yamamoto | Zendy; John Yang | Zendy; Diane B. Zastrow | Zendy; Zhe Zhang | Zendy; Chunli Zhao | Zendy; Stephan Züchner | Zendy; Hugo J. Bellen | Zendy; Rachel Mahoney | Zendy

Open Access

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Author(s) -

Suma P. Shankar,

Kristin Grimsrud,

Louise Lanoue,

Alena Egense,

Brandon Willis,

Johanna Hörberg,

Lama AlAbdi,

Klaus Mayer,

Koray Ütkür,

Kristin G. Monaghan,

Joel B. Krier,

Joan M. Stoler,

Maha Alnemer,

Prabhu Shankar,

Raffael Schaffrath,

Fowzan S. Alkuraya,

Ulrich Brinkmann,

Leif A. Eriksson,

K. C. Kent Lloyd,

Katherine A. Rauen,

Maria T. Acosta,

Margaret P Adam,

David R. Adams,

Justin Alvey,

Laura M. Amendola,

Ashley Andrews,

Euan A. Ashley,

Mahshid S. Azamian,

Carlos A. Bacino,

Güney Bademci,

Ashok Balasubramanyam,

Dustin Baldridge,

Jim Bale,

Michael Bamshad,

Deborah Barbouth,

Pınar BayrakToydemir,

Anita Beck,

Alan H. Beggs,

Edward M. Behrens,

Gill Bejerano,

Jimmy Bennet,

Beverly Berg-Rood,

Jonathan A. Bernstein,

Gerard T. Berry,

Anna Bican,

Stephanie Bivona,

Elizabeth Blue,

John Bohnsack,

Devon Bonner,

Lorenzo D. Botto,

Brenna Boyd,

Lauren C. Briere,

Elly Brokamp,

Gabrielle Brown,

Elizabeth A. Burke,

Lindsay C. Burrage,

Manish J. Butte,

Peter H. Byers,

William E. Byrd,

John M. Carey,

Olveen Carrasquillo,

Thomas Cassini,

Ta Chen Chang,

Sirisak Chanprasert,

HsiaoTuan Chao,

Gary Clark,

Terra R. Coakley,

Laurel A. Cobban,

Joy D. Cogan,

Matthew Coggins,

F. Sessions Cole,

Heather A. Colley,

Cynthia M. Cooper,

Heidi Cope,

William J. Craigen,

Andrew B. Crouse,

Michael Cunningham,

Precilla D’Souza,

Hongzheng Dai,

Surendra Dasari,

Joie Davis,

Jyoti G. Dayal,

Matthew A. Deardorff,

Esteban C. Dell’Angelica,

Katrina M. Dipple,

Daniel Doherty,

Naghmeh Dorrani,

Argenia L. Doss,

Emilie D. Douine,

Laura Duncan,

Dawn Earl,

David J. Eckstein,

Lisa Emrick,

Christine M. Eng,

Cecilia Esteves,

Marni J. Falk,

Liliana Fernández,

Elizabeth L. Fieg,

Paul G. Fisher,

Brent L. Fogel,

Irman Forghani,

William A. Gahl,

I. S. Glass,

Bernadette R. Gochuico,

Rena A. Godfrey,

Katie GoldenGrant,

Madison P. Goldrich,

Alana Grajewski,

Irma Gutierrez,

Don Hadley,

Sihoun Hahn,

Rizwan Hamid,

Kelly Hassey,

Nichole Hayes,

Frances High,

Anne Hing,

Fuki M. Hisama,

Ingrid A. Holm,

Jason Hom,

Martha HorikePyne,

Alden Huang,

Yong Huang,

Wendy J. Introne,

Rosario Isasi,

Kosuke Izumi,

Fariha Jamal,

Gail P. Jarvik,

Jeffrey G. Jarvik,

Suman Jayadev,

Orpa Jean-Marie,

Vaidehi Jobanputra,

Lefkothea Karaviti,

Jennifer A. Kennedy,

Shamika Ketkar,

Dana Kiley,

Gonench Kilich,

Shilpa N. Kobren,

Isaac S. Kohane,

Jennefer N. Kohler,

Deborah Krakow,

Donna M. Krasnewich,

Elijah Kravets,

Susan Korrick,

Mary Koziura,

Seema R. Lalani,

Byron Lam,

Christina Lam,

Grace L. LaMoure,

Brendan C. Lanpher,

Ian R. Lanza,

Kimberly LeBlanc,

Brendan Lee,

Roy C. Levitt,

Richard A. Lewis,

Pengfei Liu,

Xue Zhong Liu,

Nicola Longo,

Sandra K. Loo,

Joseph Loscalzo,

Richard L. Maas,

Ellen F. Macnamara,

Calum A. MacRae,

Valerie V. Maduro,

Bryan C. Mak,

May Christine V. Malicdan,

Laura A. Mamounas,

Teri A. Manolio,

Rong Mao,

Kenneth R. Maravilla,

Ronit Marom,

Gábor Marth,

Beth A. Martin,

Martin G. Martin,

Julián A. Martínez-Agosto,

Shruti Marwaha,

Jacob L. McCauley,

Allyn McConkieRosell,

Alexa T. McCray,

Elisabeth McGee,

Heather C. Mefford,

J. Lawrence Merritt,

Matthew Might,

Ghayda Mirzaa,

Éva Morava,

Paolo Moretti,

Mariko NakanoOkuno,

Stan F. Nelson,

John H. Newman,

Sarah K. Nicholas,

Deborah A. Nickerson,

Shirley NievesRodriguez,

Donovacic,

Devin Oglesbee,

James P. Orengo,

Laura Pace,

Stephen Pak,

J. Carl Pallais,

Christina G.S. Palmer,

Jeanette C. Papp,

Neil H. Parker,

John A. Phillips,

Jennifer E. Posey,

Lorraine Potocki,

Barbara N. Pusey,

Aaron R. Quinlan,

Wendy H. Raskind,

Archa. Raja,

Stephen C. Pak,

Anna Raper,

Genecee Renteria,

Chloe M. Reuter,

Lynette Rives,

Amy K. Robertson,

Lance H. Rodan,

Jill A. Rosenfeld,

Natalie Rosenwasser,

Francis Rossignol,

Maura Ruzhnikov,

Ralph L. Sacco,

Jacinda B. Sampson,

Mario Saporta,

C. Ron Scott,

Judy Schaechter,

Timothy Schedl,

Kelly Schoch,

Daryl A. Scott,

Vandana Shashi,

Jimann Shin,

Edwin K. Silverman,

Janet S. Sinsheimer,

Kathy Sisco,

Edward C. Smith,

Kevin S. Smith,

Emily Solem,

Lilianna SolnicaKrezel,

Ben Solomon,

Rebecca C. Spillmann,

Jennifer A. Sullivan,

Kathleen E. Sullivan,

Angela Sun,

Shirley Sutton,

David A. Sweetser,

Virginia P. Sybert,

Holly K. Tabor,

Amelia L.M. Tan,

K.-G. Queenie,

Mustafa Tekin Tan,

Fred Telischi,

Willa Thorson,

Cynthia J. Tifft,

Camilo Toro,

Alyssa A. Tran,

Brianna M. Tucker,

Tiina K. Urv,

Adeline Vanderver,

Matt Velinder,

Dave Viskochil,

Tiphanie P. Vogel,

Colleen E. Wahl,

Stephanie E Wallace,

Sophie Nicole,

Melissa Walker,

Jennifer Wambach,

Jijun Wan,

Lee-kai Wang,

Michael F. Wangler,

Patricia A. Ward,

Daniel Wegner,

Monika Weisz-Hubshman,

Mark H. Wener,

Tara Wenger,

Katherine Wesseling Perry,

Monte Westerfield,

Matthew T. Wheeler,

Jordan Whitlock,

Lynne A. Wolfe,

Kim C. Worley,

Changrui Xiao,

Shinya Yamamoto,

John Yang,

Diane B. Zastrow,

Zhe Zhang,

Chunli Zhao,

Stephan Züchner,

Hugo J. Bellen,

Rachel Mahoney

Publication year - 2022

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1016/j.gim.2022.03.014

Subject(s) - biology , in silico , exome sequencing , phenotype , synthetic lethality , genetics , knockout mouse , mutation , embryonic stem cell , microbiology and biotechnology , gene , mutant

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research

Address

John Eccles House
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom

About

About Careers Publisher Partners Contact Us Get Organisational Trial or Quote

Learn

FAQs Blog Terms of Use Privacy Policy

Download the Zendy App

Address

About

Learn

Download the Zendy App

Discover

Explore