7 research outputs found
Genomic Medicine Year in Review: 2020.
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 03/12/2020
- Field of study
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
- Author
- Acosta Maria T
- Adams David R
- Agrawal Pankaj
- Agrawal Pankaj B
- Aldinger Kimberly A
- Alejandro Mercedes E
- Allard Patrick
- Alvey Justin
- Andrews Ashley
- Andrews Jonathan C
- Ashley Euan A
- Azamian Mahshid S
- Bacino Carlos A
- Bademci Guney
- Baker Eva
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Barbouth Deborah
- Batzli Gabriel F
- Bayrak-Toydemir Pinar
- Beggs Alan H
- Bejerano Gill
- Bellen Hugo J
- Bernstein Jonathan A
- Berry Gerard T
- Bican Anna
- Bick David P
- Birch Camille L
- Bivona Stephanie
- Bohnsack John
- Bonnenmann Carsten
- Bonner Devon
- Boone Braden E
- Bostwick Bret L
- Botto Lorenzo
- Braddock Stephen R
- Briere Lauren C
- Brokamp Elly
- Brown Donna M
- Brush Matthew
- Burke Elizabeth A
- Burrage Lindsay C
- Butte Manish J
- Carey John
- Carrasquillo Olveen
- Chang Ta Chen Peter
- Chao Hsiao-Tuan
- Chung Wendy K
- Clark Gary D
- Coakley Terra R
- Cobban Laurel A
- Cogan Joy D
- Cohen Julie S
- Cole F. Sessions
- Colley Heather A
- Cooper Cynthia M
- Cope Heidi
- Craigen William J
- Crawford Joanna
- D'Souza Precilla
- Dasari Surendra
- Davids Mariska
- Dayal Jyoti G
- Dell'Angelica Esteban C
- Dhar Shweta U
- Dobyns William B
- Dorrani Naghmeh
- Dorset Daniel C
- Douine Emilie D
- Draper David D
- Duncan Laura
- Eckstein David J
- Emrick Lisa T
- Eng Christine M
- Esteves Cecilia
- Estwick Tyra
- Fatemi Ali
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L
- Fisher Paul G
- Fogel Brent L
- Forghani Irman
- Fresard Laure
- Gahl William A
- Godfrey Rena A
- Goldman Alica M
- Goldstein David B
- Gourdine Jean-Philippe F
- Grajewski Alana
- Groden Catherine A
- Gropman Andrea L
- Gubbels Cynthia S
- Haendel Melissa
- Hamid Rizwan
- Hanchard Neil A
- Hayes Nichole
- High Frances
- Holm Ingrid A
- Hom Jason
- Huang Alden
- Huang Yong
- Indaram Maanasa
- Isasi Rosario
- Jamal Fariha
- Jiang Yong-hui
- Johnston Jean M
- Jones Angela L
- Kanca Oguz
- Karaviti Lefkothea
- Kelley Emily G
- Kiley Dana
- Koeller David M
- Kohane Isaac S
- Kohler Jennefer N
- Korrick Susan
- Koziura Mary
- Krakow Deborah
- Krasnewich Donna M
- Krier Joel B
- Kyle Jennifer E
- Lalani Seema R
- Lam Byron
- Lanpher Brendan C
- Lanza Ian R
- Lau C. Christopher
- Lazar Jozef
- LeBlanc Kimberly
- Lee Brendan H
- Lee Hane
- Lee Pei-Tseng
- Levitt Roy
- Levy Shawn E
- Lewis Richard A
- Lincoln Sharyn A
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K
- Loscalzo Joseph
- Maas Richard L
- Macnamara Ellen F
- MacRae Calum A
- Maduro Valerie V
- Majcherska Marta M
- Malicdan May Christine V
- Mamounas Laura A
- Manolio Teri A
- Mao Rong
- Markello Thomas C
- Marom Ronit
- Marth Gabor
- Martin Beth A
- Martin Martin G
- Martínez-Agosto Julian A
- Marwaha Shruti
- May Thomas
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E
- McCray Alexa T
- Metz Thomas O
- Might Matthew
- Morava-Kozicz Eva
- Moretti Paolo M
- Morimoto Marie
- Mulvihill John J
- Murdock David R
- Nath Avi
- Nelson Stan F
- Newberry J. Scott
- Nicholas Sarah K
- Novacic Donna
- Oglesbee Devin
- Orengo James P
- Pace Laura
- Pak Stephen
- Pallais J. Carl
- Palmer Christina G.S
- Papp Jeanette C
- Parker Neil H
- Patel Chirag
- Phillips John A
- Posey Jennifer E
- Postlethwait John H
- Potocki Lorraine
- Pusey Barbara N
- Quinlan Aaron
- Raja Archana N
- Renteria Genecee
- Reuter Chloe M
- Rives Lynette
- Robertson Amy K
- Rodan Lance H
- Rosenfeld Jill A
- Rowley Robb K
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B
- Samson Susan L
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott Daryl A
- Shakachite Lisa
- Sharma Prashant
- Shashi Vandana
- Shields Kathleen
- Shin Jimann
- Signer Rebecca
- Sillari Catherine H
- Silverman Edwin K
- Simons Cas
- Sinsheimer Janet S
- Sisco Kathy
- Slavotinek Anne M
- Smith Kevin S
- Solnica-Krezel Lilianna
- Spillmann Rebecca C
- Stoler Joan M
- Stong Nicholas
- Sullivan Jennifer A
- Sutton Shirley
- Sweetser David A
- Tabor Holly K
- Tamburro Cecelia P
- Tan Queenie K.-G
- Tekin Mustafa
- Telischi Fred
- Thorson Willa
- Tifft Cynthia J
- Toro Camilo
- Tran Alyssa A
- Undiagnosed Diseases Network
- Urv Tiina K
- Velinder Matt
- Vezina Gilbert
- Viskochil Dave
- Vogel Tiphanie P
- Wahl Colleen E
- Walker Melissa
- Walley Nicole M
- Walsh Chris A
- Wambach Jennifer
- Wan Jijun
- Wang Lee-kai
- Wangler Michael F
- Ward Patricia A
- Waters Katrina M
- Webb-Robertson Bobbie-Jo M
- Wegner Daniel
- Westerfield Monte
- Wheeler Matthew T
- Williams Judy
- Wise Anastasia L
- Wolfe Lynne A
- Woods Jeremy D
- Worthey Elizabeth A
- Yamamoto Shinya
- Yang John
- Yoon Amanda J
- Yu Guoyun
- Yu Timothy W
- Zastrow Diane B
- Zhao Chunli
- Zuchner Stephan
- Publication venue
- Publication date
- 01/09/2019
- Field of study
Recommended from our members
One is the loneliest number: genotypic matchmaking using the electronic health record
- Author
- Acosta Maria T
- Adams David R
- Agrawal Pankaj
- Alejandro Mercedes E
- Allard Patrick
- Alvey Justin
- Andrews Ashley
- Ashley Euan A
- Azamian Mahshid S
- Bacino Carlos A
- Bademci Guney
- Baker Eva
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Barbouth Deborah
- Bastarache Lisa
- Batzli Gabriel F
- Bayrak-Toydemir Pinar
- Beggs Alan H
- Bejerano Gill
- Bellen Hugo J
- Bernstein Jonathan A
- Berry Gerard T
- Bican Anna
- Bick David P
- Birch Camille L
- Bivona Stephanie
- Bohnsack John
- Bonnenmann Carsten
- Bonner Devon
- Boone Braden E
- Bostwick Bret L
- Botto Lorenzo
- Briere Lauren C
- Brokamp Elly
- Brown Donna M
- Brush Matthew
- Burke Elizabeth A
- Burrage Lindsay C
- Butte Manish J
- Carey John
- Carrasquillo Olveen
- Chang Ta Chen Peter
- Chao Hsiao-Tuan
- Clark Gary D
- Coakley Terra R
- Cobban Laurel A
- Cogan Joy D
- Cole F. Sessions
- Colley Heather A
- Cooper Cynthia M
- Cope Heidi
- Craigen William J
- Dasari Surendra
- Davids Mariska
- Dayal Jyoti G
- Dell’Angelica Esteban C
- Dhar Shweta U
- Dorrani Naghmeh
- Dorset Daniel C
- Douine Emilie D
- Draper David D
- Duncan Laura
- D’Souza Precilla
- Eckstein David J
- Emrick Lisa T
- Eng Christine M
- Esteves Cecilia
- Estwick Tyra
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L
- Fisher Paul G
- Fogel Brent L
- Forghani Irman
- Fresard Laure
- Gahl William A
- Godfrey Rena A
- Goldman Alica M
- Goldstein David B
- Gourdine Jean-Philippe F
- Grajewski Alana
- Groden Catherine A
- Gropman Andrea L
- Haendel Melissa
- Hamid Rizwan
- Hanchard Neil A
- Hayes Nichole
- High Frances
- Holm Ingrid A
- Hom Jason
- Huang Alden
- Huang Yong
- Isasi Rosario
- Jamal Fariha
- Jiang Yong-hui
- Johnston Jean M
- Jones Angela L
- Karaviti Lefkothea
- Kelley Emily G
- Kiley Dana
- Koeller David M
- Kohane Isaac S
- Kohler Jennefer N
- Korrick Susan
- Koziura Mary E
- Krakow Deborah
- Krasnewich Donna M
- Krier Joel B
- Kyle Jennifer E
- Lalani Seema R
- Lam Byron
- Lanpher Brendan C
- Lanza Ian R
- Lau C. Christopher
- Laura Pace
- Lazar Jozef
- LeBlanc Kimberly
- Lee Brendan H
- Lee Hane
- Levitt Roy
- Levy Shawn E
- Lewis Richard A
- Lincoln Sharyn A
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K
- Loscalzo Joseph
- Maas Richard L
- Macnamara Ellen F
- MacRae Calum A
- Maduro Valerie V
- Majcherska Marta M
- Malicdan May Christine V
- Mamounas Laura A
- Manolio Teri A
- Mao Rong
- Markello Thomas C
- Marom Ronit
- Marth Gabor
- Martin Beth A
- Martin Martin G
- Martínez-Agosto Julian A
- Marwaha Shruti
- May Thomas
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E
- McCray Alexa T
- Metz Thomas O
- Might Matthew
- Morava-Kozicz Eva
- Moretti Paolo M
- Morimoto Marie
- Mulvihill John J
- Murdock David R
- Nath Avi
- Nelson Stanley F
- Newberry J. Scott
- Newman John H
- Nicholas Sarah K
- Novacic Donna
- Oglesbee Devin
- Orengo James P
- Pak Stephen
- Pallais J. Carl
- Palmer Christina G.S
- Paolo Moretti
- Papp Jeanette C
- Parker Neil H
- Peterson Josh F
- Phillips John A
- Posey Jennifer E
- Postlethwait John H
- Potocki Lorraine
- Pusey Barbara N
- Quinlan Aaron
- Raja Archana N
- Renteria Genecee
- Reuter Chloe M
- Rives Lynette C
- Robertson Amy K
- Rodan Lance H
- Rosenfeld Jill A
- Rowley Robb K
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B
- Samson Susan L
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schoch Kelly
- Scott Daryl A
- Shakachite Lisa
- Sharma Prashant
- Shashi Vandana
- Shields Kathleen
- Shin Jimann
- Signer Rebecca H
- Sillari Catherine H
- Silverman Edwin K
- Sinsheimer Janet S
- Sisco Kathy
- Smith Kevin S
- Solnica-Krezel Lilianna
- Spillmann Rebecca C
- Stoler Joan M
- Stong Nicholas
- Sullivan Jennifer A
- Sutton Shirley
- Sweetser David A
- Tabor Holly K
- Tamburro Cecelia P
- Tan Queenie K.-G
- Tang Leigh Anne
- Tekin Mustafa
- Telischi Fred
- Thorson Willa
- Tifft Cynthia J
- Toro Camilo
- Tran Alyssa A
- Undiagnosed Diseases Network
- Urv Tiina K
- Velinder Matt
- Viskochil Dave
- Vogel Tiphanie P
- Wahl Colleen E
- Walker Melissa
- Walley Nicole M
- Walsh Chris A
- Wambach Jennifer
- Wan Jijun
- Wang Lee-kai
- Wangler Michael F
- Ward Patricia A
- Waters Katrina M
- Webb-Robertson Bobbie-Jo M
- Wegner Daniel
- Westerfield Monte
- Wheeler Matthew T
- Wise Anastasia L
- Wolfe Lynne A
- Woods Jeremy D
- Worthey Elizabeth A
- Yamamoto Shinya
- Yang John
- Yoon Amanda J
- Yu Guoyun
- Zastrow Diane B
- Zhao Chunli
- Zuchner Stephan
- Publication venue
- Elsevier Inc
- Publication date
- 01/10/2021
- Field of study
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
- Author
- Abou Jamra Rami
- Acosta Maria T
- Adam Margaret
- Adams David R
- Agrawal Pankaj B
- Ajmone Paola F.
- Alawi Malik
- Alejandro Mercedes E
- Alfadhel Majid
- Alvey Justin
- Amendola Laura
- Andrews Ashley
- Ashley Euan A
- Azamian Mahshid S
- Bacino Carlos A
- Bademci Guney
- Baker Eva
- Balasubramanyam Ashok
- Baldridge Dustin
- Bale Jim
- Ballon Katleen
- Bamshad Michael
- Barbouth Deborah
- Batzli Gabriel F
- Bayrak-Toydemir Pinar
- Beck Anita
- Bedeschi Maria F.
- Beggs Alan H
- Behrens Edward
- Bejerano Gill
- Bennet Jimmy
- Berg-Rood Beverly
- Bernier Raphael
- Bernstein Jonathan A
- Berry Gerard T
- Beysen Diane
- Bican Anna
- Biskup Saskia
- Bivona Stephanie
- Blue Elizabeth
- Bohnsack John
- Bonnenmann Carsten
- Bonner Devon
- Botto Lorenzo
- Boyd Brenna
- Briere Lauren C
- Brokamp Elly
- Brown Gabrielle
- Buhas Daniela
- Burke Elizabeth A
- Burrage Lindsay C
- Butte Manish J
- Byers Peter
- Byrd William E
- Carey John
- Carl Pallais J
- Carrasquillo Olveen
- Chang Ta Chen Peter
- Chanprasert Sirisak
- Chao Hsiao-Tuan
- Christopher Lau C
- Clark Gary D
- Coakley Terra R
- Cobban Laurel A
- Coci Emanuele G.
- Cogan Joy D
- Cole F Sessions
- Colley Heather A
- Cooper Cynthia M
- Cope Heidi
- Cope Heidi
- Craigen William J
- Crouse Andrew B
- Cunningham Michael
- D\u2019Souza Precilla
- Dai Hongzheng
- Dasari Surendra
- Davids Mariska
- Dayal Jyoti G
- Deardorff Matthew
- Dell\u2019Angelica Esteban C
- Dhar Shweta U
- Dipple Katrina
- Doherty Daniel
- Doosti Mohammad
- Dorrani Naghmeh
- Douine Emilie D
- Draper David D
- Duncan Laura
- Earl Dawn
- Eckstein David J
- Emrick Lisa T
- Eng Christine M
- Esteves Cecilia
- Estwick Tyra
- Falk Marni
- Fernandez Liliana
- Ferreira Carlos
- Fieg Elizabeth L
- Fisher Paul G
- Fogel Brent L
- Forghani Irman
- Fox Stephanie
- Fresard Laure
- Gahl William A
- Gelb Bruce D
- Glass Ian
- Godfrey Rena A
- Golden-Grant Katie
- Goldman Alica M
- Goldstein David B
- Grajewski Alana
- Groden Catherine A
- Gropman Andrea L
- Gutierrez Irma
- Hahn Sihoun
- Hamid Rizwan
- Hanchard Neil A
- Hassey Kelly
- Hayes Nichole
- Heller Corina
- Hempel Maja
- High Frances
- Hing Anne
- Hisama Fuki M
- Holm Ingrid A
- Hom Jason
- Honzik Tomas
- Horike-Pyne Martha
- Houlden Henry
- Huang Alden
- Huang Yong
- Iascone Maria
- Isasi Rosario
- Jaeken Jaak
- Jamal Fariha
- Jarvik Gail P
- Jarvik Jeffrey
- Javaher-Haghighi Poupak
- Jayadev Suman
- Johnston Jean M
- Juusola Jane
- Karaviti Lefkothea
- Karimiani Ehsan G
- Kelley Emily G
- Kennedy Jennifer
- Kiley Dana
- Kmoch Stanislav
- Kohane Isaac S
- Kohler Jennefer N
- Kooy Frank
- Korenke Georg Christoph
- Korrick Susan
- Kort\ufcm Fanny
- Koziura Mary
- Krakow Deborah
- Krasnewich Donna M
- Kravets Elijah
- Krier Joel B
- Kurth Ingo
- Kutsche Kerstin
- Lalani Seema R
- Lam Byron
- Lam Christina
- Lanpher Brendan C
- Lanza Ian R
- LeBlanc Kimberly
- Lee Brendan H
- Lee Hane
- Levitt Roy
- Lewis Richard A
- Lincoln Sharyn A
- Liu Pengfei
- Liu Xue Zhong
- Longo Nicola
- Loo Sandra K
- Loscalzo Joseph
- Maas Richard L
- Macnamara Ellen F
- MacRae Calum A
- Maduro Valerie V
- Maier Esther M.
- Majcherska Marta M
- Malicdan May Christine V
- Mamounas Laura A
- Manolio Teri A
- Mao Rong
- Maravilla Kenneth
- Markello Thomas C
- Marom Ronit
- Maroofian Reza
- Mart\uednez-Agosto Julian A
- Marth Gabor
- Martin Beth A
- Martin Martin G
- Marwaha Shruti
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E
- McCray Alexa T
- McGee Elisabeth
- Mefford Heather
- Merritt J Lawrence
- Meuwissen Marije
- Might Matthew
- Mirzaa Ghayda
- Mojarrad Majid
- Morava-Kozicz Eva
- Moretti Paolo M
- Morimoto Marie
- Mulvihill John J
- Murdock David R
- Murphy David
- Nakano-Okuno Mariko
- Nath Avi
- Nelson Stan F
- Newman John H
- Nicholas Sarah K
- Nickerson Deborah
- Noskova Lenka
- Novacic Donna
- Oglesbee Devin
- Orengo James P
- Pace Laura
- Pak Stephen
- Palmer Christina GS
- Palomares-Bralo Mar\ueda
- Papp Jeanette C
- Parker Neil H
- Peeters Hilde
- Perry Katherine Wesseling
- Phillips John A
- Posey Jennifer E
- Potocki Lorraine
- Pusey Barbara N
- Quinlan Aaron
- Raja Archana N
- Raskind Wendy
- Renteria Genecee
- Reuter Chloe M
- Rives Lynette
- Robertson Amy K
- Rodan Lance H
- Rodr\uedguez Alonso Aroa
- Rosenfeld Jill A
- Rosenwasser Natalie
- Rowley Robb K
- Ruzhnikov Maura
- Sacco Ralph
- Sampson Jacinda B
- Samson Susan L
- Sanchez-Valle Amarilis
- Santer Ren\ue9
- Santos-Simarro Fernando
- Saporta Mario
- Schaechter Judy
- Schedl Timothy
- Schneeberger Pauline E.
- Schoch Kelly
- Scott C Ron
- Scott Daryl A
- Sharma Prashant
- Shashi Vandana
- Shin Jimann
- Siekmeyer Manuela
- Signer Rebecca
- Sillari Catherine H
- Silverman Edwin K
- Sinsheimer Janet S
- Sisco Kathy
- Smith Edward C
- Smith Kevin S
- Solem Emily
- Solnica-Krezel Lilianna
- Spillmann Rebecca C
- Stoler Joan M
- Stong Nicholas
- Sullivan Jennifer A
- Sullivan Kathleen
- Sun Angela
- Sutton Shirley
- Sweetser David A
- Sybert Virginia
- Tabor Holly K
- Tamburro Cecelia P
- Tan Queenie K -G
- Tekin Mustafa
- Telischi Fred
- Thorson Willa
- Tifft Cynthia J
- Toro Camilo
- Tran Alyssa A
- Tucker Brianna M
- Urv Tiina K
- Vanderver Adeline
- Velinder Matt
- Viskochil Dave
- Vogel Tiphanie P
- Wahl Colleen E
- Walker Melissa
- Wallace Stephanie
- Walley Nicole M
- Walsh Chris A
- Wambach Jennifer
- Wan Jijun
- Wang Lee-kai
- Wangler Michael F
- Ward Patricia A
- Webb Bryn D.
- Wegner Daniel
- Wener Mark
- Wenger Tara
- Westerfield Monte
- Wheeler Matthew T
- Whitlock Jordan
- Woidy Mathias
- Wolfe Lynne A
- Woods Jeremy D
- Yamamoto Shinya
- Yang John
- Yu Guoyun
- Zastrow Diane B
- Zhao Chunli
- Zuchner Stephan
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Recommended from our members
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
- Author
- Acosta Maria T
- Aday Aaron
- Afenjar Alexandra
- Alejandro Mercedes E
- Alexander Suzy
- Allard Patrick
- Armstrong Martin
- Asamoah Alexander
- Asher Stephanie
- Ashley Euan A
- Au Margaret
- Azamian Mahshid S
- Bacino Carlos A
- Bademci Guney
- Baker Eva
- Balasubramanyam Ashok
- Baldridge Dustin
- Barbouth Deborah
- Barnett Sarah S
- Bartholomew Dennis
- Batzli Gabriel F
- Beggs Alan H
- Bellen Hugo J
- Bernstein Jonathan A
- Berry Gerard T
- Bhoj Elizabeth
- Bican Anna
- Bick David P
- Billette de Villemeur Thierry
- Birch Camille L
- Bivona Stephanie
- Bonnenmann Carsten
- Bonner Devon
- Boone Braden E
- Bostwick Bret L
- Briere Lauren C
- Brokamp Elly
- Brown Donna M
- Brush Matthew
- Burke Elizabeth A
- Burne Thomas
- Burrage Lindsay C
- Butte Manish J
- Bézieau Stéphane
- Carrasquillo Olveen
- Chao Hsiao-Tuan
- Clark Gary D
- Coakley Terra R
- Cobban Laurel A
- Cogan Joy D
- Cole F. Sessions
- Colley Heather A
- Cooper Cynthia M
- Cope Heidi
- Corbett Mark
- Craigen William J
- Cutcutache Ioana
- D'Souza Precilla
- Danylchuk Noelle R
- Dasari Surendra
- Davids Mariska
- Davidson Jean M
- Dayal Jyoti G
- Dell'Angelica Esteban C
- Demirdas Serwet
- Dhar Shweta U
- Dikow Nicola
- Domingo Deepti
- Dorrani Naghmeh
- Dorset Daniel C
- Douine Emilie D
- Draper David D
- Dries Annika M
- Duncan Laura
- Désir Julie
- Eckstein David J
- Emrick Lisa T
- Eng Christine M
- Enns Gregory M
- Esteves Cecilia
- Estwick Tyra
- Ewing Sarah A
- Fernandez Liliana
- Fernández-Jaén Alberto
- Ferreira Carlos
- Fieg Elizabeth L
- Fisher Paul G
- Fogel Brent L
- Forghani Irman
- Friedman Noah D
- Gahl William
- Gahl William A
- Gardner Alison
- Godfrey Rena A
- Goldman Alica M
- Goldstein Amy
- Goldstein David B
- Gourdine Jean-Philippe F
- Graham John M
- Grajewski Alana
- Groden Catherine A
- Gropman Andrea L
- Grønborg Sabine
- Gécz Jozef
- Haendel Melissa
- Hamid Rizwan
- Hanchard Neil A
- Hickey Scott E
- High Frances
- Hoffer Mariëtte J.V
- Hollander Nicolette den
- Holm Ingrid A
- Hom Jason
- Huang Alden
- Huang Yong
- Infante Elena
- Isasi Rosario
- Ivancevic Atma
- Jackson Kelly E
- Jamal Fariha
- Jiang Yong-hui
- Johnson Brett V
- Johnston Jean M
- Jolly Lachlan A
- Jones Angela L
- Joset Pascal
- Kaplan Paige
- Karaviti Lefkothea
- Kasherman Maria
- Keegan Catherine E
- Kelley Emily G
- Keren Boris
- Kini Usha
- Klee Eric W
- Kleefstra Tjitske
- Koboldt Daniel C
- Koeller David M
- Koenig Mary Kay
- Kohane Isaac S
- Kohler Jennefer N
- Koolen David A
- Korrick Susan
- Koziura Mary
- Krakow Deborah
- Krasnewich Donna M
- Krier Joel B
- Kumar Raman
- Kyle Jennifer E
- Küry Sébastien
- Lalani Seema R
- Lam Byron
- Lanpher Brendan C
- Lanza Ian R
- Lau C. Christopher
- Lazar Jozef
- LeBlanc Kimberly
- Lee Brendan H
- Lee Hane
- Lefroy Henrietta
- Levitt Roy
- Levy Shawn E
- Lewis Richard A
- Li Dong
- Lin Angela E
- Lincoln Sharyn A
- Lines Matthew
- Liu Pengfei
- Liu Xue Zhong
- Loo Sandra K
- Loscalzo Joseph
- López-Otín Carlos
- Maas Richard L
- Macnamara Ellen F
- MacRae Calum A
- Madan-Khetarpal Suneeta
- Maduro Valerie V
- Majcherska Marta M
- Malicdan May Christine V
- Mamounas Laura A
- Manolio Teri A
- Marangoni Martina
- Markello Thomas C
- Marom Ronit
- Martin Martin G
- Martínez-Agosto Julian A
- Marwaha Shruti
- May Thomas
- McCauley Jacob
- McConkie-Rosell Allyn
- McCormack Colleen E
- McCray Alexa T
- Mcdougall Carey
- Mercier Sandra
- Mercimek-Andrews Saadet
- Merker Jason D
- Metz Thomas O
- Might Matthew
- Morava-Kozicz Eva
- Moretti Paolo M
- Morimoto Marie
- Mosher Theresa Mihalic
- Mulvihill John J
- Murdock David R
- Narayanan Vinodh
- Nath Avi
- Nelson Stan F
- Newberry J. Scott
- Nicholas Sarah K
- Novacic Donna
- Oegema Renske
- Oglesbee Devin
- Oh Tracey
- Oishi Sabrina
- Orengo James P
- Page Matthew
- Pak Stephen
- Pallais J. Carl
- Palmer Christina GS
- Papp Jeanette C
- Parker Neil H
- Parnell Euan
- Pasquier Laurent
- Pena Loren
- Pena Loren
- Penzes Peter
- Perilla-Young Yezmin
- Perry M. Scott
- Peter Chang Ta Chen
- Phillips John A
- Pichurin Pavel N
- Pierson Tyler Mark
- Pinto e Vairo Filippo
- Piper Michael
- Posey Jennifer E
- Postlethwait John H
- Potocki Lorraine
- Pusey Barbara N
- Pérez-Jurado Luis A
- Ramsey Keri
- Rauch Anita
- Raynaud Martine
- Reijnders Margot R.F
- Reis Claudia Falcao
- Renteri Genecee
- Reuter Chloe M
- Rives Lynette
- Robertson Amy K
- Rodan Lance H
- Rosenfeld Jill A
- Rosenfeld Jill A
- Rowley Robb K
- Sa Joaquim
- Sacco Ralph
- Sampson Jacinda B
- Samson Susan L
- Sanchez-Lara Pedro A
- Santiago-Fernández Olaya
- Saporta Mario
- Schaechter Judy
- Schaefer G.B
- Schedl Timothy
- Schoch Kelly
- Schoch Kelly
- Schuette Jane L
- Scott Daryl A
- Shakachite Lisa
- Sharma Prashant
- Shashi Vandana
- Shashi Vandana
- Shieh Christine
- Shields Kathleen
- Shin Jimann
- Signer Rebecca
- Sillari Catherine H
- Silverman Edwin K
- Sinsheimer Janet S
- Smeland Marie Falkenberg
- Smith Laurie D
- Solnica-Krezel Lilianna
- Spillmann Rebecca C
- Steeves Marcie A
- Steindl Katharina
- Stoler Joan M
- Stong Nicholas
- Sullivan Jennifer A
- Sullivan Jennifer A
- Sweetser David A
- Tamburro Cecelia P
- Tan Queenie K.-G
- Tekin Mustafa
- Telischi Fred
- Tezcan Kamer
- Thorson Willa
- Tifft Cynthia J
- Toro Camilo
- Tran Alyssa A
- Urv Tiina K
- Van Allen Margot
- van Binsbergen Ellen
- van der Zwaag Bert
- Van Maldergem Lionel
- VanHasselt Peter M
- Vega Michelle Sanchez
- Vogel Tiphanie P
- Waggott Daryl M
- Wahl Colleen E
- Walker Melissa
- Walley Nicole M
- Walsh Chris A
- Wambach Jennifer
- Wan Jijun
- Wang Lee-kai
- Wangler Michael F
- Ward Patricia A
- Waters Katrina M
- Webb-Robertson Bobbie-Jo M
- Wegner Daniel
- Weiss Marjan
- Westerfield Monte
- Wheeler Matthew T
- Wise Anastasia L
- Wolfe Lynne A
- Wood Stephen A
- Woods Jeremy D
- Worthey Elizabeth A
- Yachelevich Naomi
- Yamamoto Shinya
- Yang John
- Yoon Amanda J
- Yoon Sehyoun
- Yu Guoyun
- Zackai Elaine
- Zastrow Diane B
- Zhao Chunli
- Zuchner Stephan
- Zwijnenburg Petra
- Publication venue
- Elsevier Inc
- Publication date
- 15/01/2020
- Field of study
The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.
We used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.
Twelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor β signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocampal-dependent learning and memory.
Our data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
- Author
- Aaron Quinlan
- Aashim Bhatia
- Alan H. Beggs
- Alana Grajewski
- Alden Huang
- Alexa T. McCray
- Alica M. Goldman
- Allyn McConkie-Rosell
- Alyssa A. Tran
- Amanda J. Yoon
- Amy K. Robertson
- Anastasia L. Wise
- Andrea L. Gropman
- Angela L. Jones
- Anna Bican
- Archana N. Raja
- Ashley Andrews
- Ashok Balasubramanyam
- Avi Nath
- Barbara N. Pusey
- Beth A. Martin
- Bobbie-Jo M. Webb-Robertson
- Braden E. Boone
- Brendan C. Lanpher
- Brendan H. Lee
- Brent L. Fogel
- Bret C. Mobley
- Bret L. Bostwick
- Byron Lam
- C. Christopher Lau
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Carlos A. Bacino
- Carlos Ferreira
- Carsten Bonnenmann
- Catherine A. Groden
- Catherine H. Sillari
- Cecelia P. Tamburro
- Cecilia Esteves
- Chloe M. Reuter
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Chunli Zhao
- Colleen E. McCormack
- Colleen E. Wahl
- Cynthia J. Tifft
- Cynthia M. Cooper
- Dana Kiley
- Daniel C. Dorset
- Daniel Wegner
- Daryl A. Scott
- Dave Viskochil
- David A. Sweetser
- David B. Goldstein
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- David R. Murdock
- Deborah Barbouth
- Deborah Krakow
- Devin Oglesbee
- Devon Bonner
- Diane B. Zastrow
- Donna M. Brown
- Donna Novacic
- Dorboz
- Dowling
- Dustin Baldridge
- Díaz-Manera
- Edwin K. Silverman
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Fieg
- Ellen F. Macnamara
- Elly Brokamp
- Elly Brokamp
- Emilie D. Douine
- Emily G. Kelley
- Esteban C. Dell'Angelica
- Euan A. Ashley
- Eva Baker
- Eva Morava-Kozicz
- F. Sessions Cole
- Fariha Jamal
- Fiorillo
- Frances High
- Fred Telischi
- Gabor Marth
- Gabriel F. Batzli
- Gary D. Clark
- Genecee Renteria
- Gerard T. Berry
- Ghaoui
- Gill Bejerano
- Guney Bademci
- Guoyun Yu
- Hane Lee
- Heather A. Colley
- Heidi Cope
- Holly K. Tabor
- Hsiao-Tuan Chao
- Hugo J. Bellen
- Ian R. Lanza
- Ingrid A. Holm
- Irman Forghani
- Isaac S. Kohane
- J. Carl Pallais
- J. Scott Newberry
- Jacinda B. Sampson
- Jacob McCauley
- James P. Orengo
- Janet S. Sinsheimer
- Jason Hom
- Jean M. Johnston
- Jean-Philippe F. Gourdine
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Kyle
- Jennifer E. Posey
- Jennifer Wambach
- Jeremy D. Woods
- Jijun Wan
- Jill A. Rosenfeld
- Jim Bale
- Jimann Shin
- Joan M. Stoler
- Joel B. Krier
- John A. Phillips
- John Bohnsack
- John Carey
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- John Newman
- John Phillips
- John Yang
- Jonathan A. Bernstein
- Joy Cogan
- Joy D. Cogan
- Jozef Lazar
- Judy Schaechter
- Julian A. Martínez-Agosto
- Justin Alvey
- Jyoti G. Dayal
- Kathleen Shields
- Kathy Sisco
- Katrina M. Waters
- Kayman-Kurekci
- Kelly Schoch
- Kevin S. Smith
- Kimberly LeBlanc
- Komaki
- Lance H. Rodan
- Laura A. Mamounas
- Laura Duncan
- Laura Pace
- Laure Fresard
- Laurel A. Cobban
- Lauren C. Briere
- Lee-kai Wang
- Lefkothea Karaviti
- Liliana Fernandez
- Lilianna Solnica-Krezel
- Lindsay C. Burrage
- Lisa Shakachite
- Lisa T. Emrick
- Lorenzo Botto
- Lorraine Potocki
- Lynette Rives
- Lynne A. Wolfe
- Mahshid S. Azamian
- Manish J. Butte
- Maria T. Acosta
- Marie Morimoto
- Mario Saporta
- Mariska Davids
- Marta M. Majcherska
- Martin G. Martin
- Mary E. Koziura
- Mary Koziura
- Matt Velinder
- Matthew Brush
- Matthew Might
- Matthew T. Wheeler
- Maura Ruzhnikov
- May Christine V. Malicdan
- Melissa Haendel
- Melissa Walker
- Mercedes E. Alejandro
- Michael F. Wangler
- Monte Westerfield
- Mustafa Tekin
- Naghmeh Dorrani
- Neil A. Hanchard
- Neil H. Parker
- Nicholas Stong
- Nichole Hayes
- Nicole M. Walley
- Olveen Carrasquillo
- Pankaj Agrawal
- Paolo M. Moretti
- Patricia A. Ward
- Patrick Allard
- Paul G. Fisher
- Pengfei Liu
- Pinar Bayrak-Toydemir
- Politano
- Prashant Sharma
- Precilla D'Souza
- Queenie K.-G. Tan
- Ralph Sacco
- Rebecca C. Spillmann
- Rebecca Signer
- Rena A. Godfrey
- Richard A. Lewis
- Richard L. Maas
- Rizwan Hamid
- Rizwan Hamid
- Robb K. Rowley
- Rong Mao
- Ronit Marom
- Rosario Isasi
- Roy Levitt
- Sandra K. Loo
- Sarah K. Nicholas
- Seema R. Lalani
- Sharyn A. Lincoln
- Shawn E. Levy
- Shinya Yamamoto
- Shirley Sutton
- Shruti Marwaha
- Shweta U. Dhar
- Stan F. Nelson
- Stephan Zuchner
- Stephanie Bivona
- Steven A. Moore
- Surendra Dasari
- Susan Korrick
- Susan L. Samson
- Ta Chen Peter Chang
- Tajsharghi
- Teri A. Manolio
- Terra R. Coakley
- Thomas C. Markello
- Thomas May
- Thomas O. Metz
- Tiina K. Urv
- Timothy Schedl
- Tiphanie P. Vogel
- Tyra Estwick
- Valerie V. Maduro
- Vandana Shashi
- Willa Thorson
- William A. Gahl
- William J. Craigen
- Xue Zhong Liu
- Yong Huang
- Yong-hui Jiang
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
- Author
- Aaron Quinlan
- Alan H. Beggs
- Alana Grajewski
- Alden Huang
- Alexa T. McCray
- Alica M. Goldman
- Alissa Becerril
- Allyn McConkie-Rosell
- Alyssa A. Tran
- Amanda J. Yoon
- Amy K. Robertson
- Anastasia L. Wise
- Ancans
- Andrea L. Gropman
- Angela L. Jones
- Anna Bican
- Archana N. Raja
- Ashley Andrews
- Ashok Balasubramanyam
- Austin Larson
- Avi Nath
- Barbara N. Pusey
- Behringer
- Beth A. Martin
- Bobbie-Jo M. Webb-Robertson
- Braden E. Boone
- Brendan C. Lanpher
- Brendan H. Lee
- Brent L. Fogel
- Bret L. Bostwick
- Byron Lam
- C. Christopher Lau
- Calum A. MacRae
- Camille L. Birch
- Camilo Toro
- Camilo Toro
- Carlos A. Bacino
- Carlos Ferreira
- Carsten Bonnenmann
- Catherine A. Groden
- Catherine H. Sillari
- Cecelia P. Tamburro
- Cecilia Esteves
- Chalhoub
- Chloe M. Reuter
- Chris A. Walsh
- Christina G.S. Palmer
- Christine M. Eng
- Chunli Zhao
- Cleiren
- Colleen E. McCormack
- Colleen E. Wahl
- Cynthia J. Tifft
- Cynthia J. Tifft
- Cynthia M. Cooper
- Dana Kiley
- Daniel C. Dorset
- Daniel Wegner
- Daryl A. Scott
- Dave Viskochil
- David A. Sweetser
- David B. Goldstein
- David D. Draper
- David J. Eckstein
- David M. Koeller
- David P. Bick
- David R. Adams
- David R. Adams
- David R. Murdock
- Deborah Barbouth
- Deborah Krakow
- Debra L. Day-Salvatore
- Devin Oglesbee
- Devon Bonner
- Devuyst
- Diane B. Zastrow
- Dong Chen
- Donna M. Brown
- Donna M. Krasnewich
- Donna Novacic
- Dustin Baldridge
- Edwin K. Silverman
- Elena-Raluca Nicoli
- Elizabeth A. Burke
- Elizabeth A. Worthey
- Elizabeth L. Fieg
- Ellen F. Macnamara
- Elly Brokamp
- Emilie D. Douine
- Emily G. Kelley
- Esteban C. Dell'Angelica
- Euan A. Ashley
- Eva Baker
- Eva Morava-Kozicz
- F. Sessions Cole
- Fariha Jamal
- Frances High
- Fred Telischi
- Gabor Marth
- Gabriel F. Batzli
- Gahl
- Gahl
- Gary D. Clark
- Gene Elliott
- Genecee Renteria
- Gerard T. Berry
- Gill Bejerano
- Graves
- Guney Bademci
- Guoyun Yu
- Hamer
- Hane Lee
- Heather A. Colley
- Heidi Cope
- Heidi Dorward
- Holly K. Tabor
- Hsiao-Tuan Chao
- Hugo J. Bellen
- Ian R. Lanza
- Ingrid A. Holm
- Irman Forghani
- Isaac S. Kohane
- J. Carl Pallais
- J. Scott Newberry
- Jacinda B. Sampson
- Jacob McCauley
- James P. Orengo
- Janet S. Sinsheimer
- Jason Hom
- Jean M. Johnston
- Jean-Philippe F. Gourdine
- Jeanette C. Papp
- Jennefer N. Kohler
- Jennifer A. Sullivan
- Jennifer E. Kyle
- Jennifer E. Posey
- Jennifer Wambach
- Jentsch
- Jentsch
- Jeremy D. Woods
- Jijun Wan
- Jill A. Rosenfeld
- Jim Bale
- Jimann Shin
- Joan M. Stoler
- Joel B. Krier
- John A. Phillips
- John Bohnsack
- John Carey
- John Douglas Burke
- John H. Newman
- John H. Postlethwait
- John J. Mulvihill
- John Yang
- Jonathan A. Bernstein
- Joseph A. Mindell
- Joseph Loscalzo
- Joy D. Cogan
- Jozef Lazar
- Judy Schaechter
- Julian A. Martínez-Agosto
- Justin Alvey
- Jyoti G. Dayal
- Kasper
- Kathleen Shields
- Kathy Sisco
- Katrina M. Waters
- Kelly Schoch
- Kevin S. Smith
- Kieferle
- Kimberly LeBlanc
- Kornak
- Kuronita
- Lance H. Rodan
- Lange
- Laura A. Mamounas
- Laura Duncan
- Laura Pace
- Laure Fresard
- Laurel A. Cobban
- Lauren C. Briere
- Lee-kai Wang
- Lefkothea Karaviti
- Leisle
- Liliana Fernandez
- Lilianna Solnica-Krezel
- Liman
- Lindsay C. Burrage
- Lisa J. Garrett
- Lisa Shakachite
- Lisa T. Emrick
- Lorenzo Botto
- Lorraine Potocki
- Lu
- Lynette Rives
- Lynne A. Wolfe
- Mahshid S. Azamian
- Majumdar
- Malicdan
- Manish J. Butte
- Maria T. Acosta
- Marie Morimoto
- Mario Saporta
- Mariska Davids
- Mariska Davids
- Marta M. Majcherska
- Martin G. Martin
- Mary Hackbarth
- Mary Koziura
- Mary R. Weston
- Matt Velinder
- Matthew Brush
- Matthew Might
- Matthew T. Wheeler
- Maura Ruzhnikov
- May Christine V. Malicdan
- May Christine V. Malicdan
- Melissa Haendel
- Melissa Walker
- Mercedes E. Alejandro
- Michael F. Wangler
- Mindell
- Mohammad-Panah
- Monte Westerfield
- Moreno-Mateos
- Mustafa Tekin
- Mylinh Vu
- Naghmeh Dorrani
- Neil A. Hanchard
- Neil H. Parker
- Nicholas Stong
- Nichole Hayes
- Nicola Longo
- Nicole M. Walley
- Olveen Carrasquillo
- Pankaj Agrawal
- Paolo M. Moretti
- Patricia A. Ward
- Patricia M. Zerfas
- Patrick Allard
- Paul G. Fisher
- Pengfei Liu
- Peter R. Baker
- Pinar Bayrak-Toydemir
- Poët
- Prashant Sharma
- Precilla D'Souza
- Queenie K.-G. Tan
- Ralph Sacco
- Rebecca C. Spillmann
- Rebecca Signer
- Rena A. Godfrey
- Richard A. Lewis
- Richard L. Maas
- Rizwan Hamid
- Robb K. Rowley
- Rong Mao
- Ronit Marom
- Rosario Isasi
- Roy Levitt
- Sanchez
- Sandra K. Loo
- Sarah K. Nicholas
- Seema R. Lalani
- Sharyn A. Lincoln
- Shawn E. Levy
- Shinya Yamamoto
- Shirley Sutton
- Shruti Marwaha
- Shweta U. Dhar
- Stan F. Nelson
- Steinberg
- Steinmeyer
- Stephan Zuchner
- Stephanie Bivona
- Stephen Pak
- Stobrawa
- Surendra Dasari
- Susan Korrick
- Susan L. Samson
- Ta Chen Peter Chang
- Teri A. Manolio
- Terra R. Coakley
- Thiemann
- Thomas C. Markello
- Thomas C. Markello
- Thomas May
- Thomas O. Metz
- Tiina K. Urv
- Tim Wood
- Timothy Schedl
- Tiphanie P. Vogel
- Tycko
- Tyra Estwick
- Uchida
- Valerie V. Maduro
- Vandana Shashi
- Vilboux
- Wadih M. Zein
- Wei Zheng
- Weinert
- Willa Thorson
- William A. Gahl
- William A. Gahl
- William J. Craigen
- Xiong
- Xue Zhong Liu
- Yan Huang
- Yong Huang
- Yong-hui Jiang
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study