New Results
Loss-of-function in IRF2BPL is associated with neurological phenotypes
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia I. Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyung-Lok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail Spiridigliozzi, Mays El-Dairi, Robert Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden-Grant, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D.M. Pena
doi: https://doi.org/10.1101/322495
Paul C. Marcogliese
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Vandana Shashi
2Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Rebecca C. Spillmann
2Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Nicholas Stong
3Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, 10032, USA
Jill A. Rosenfeld
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Mary Kay Koenig
4Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA
Julián A Martínez-Agosto
5Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, 90095, USA
6Department of Pediatrics, David Geffen School of Medicine, University of California-Losy Angeles, Los Angeles, CA, 90095, USA
7Department of Child and Adolescent Psychiatry, Resnick Neuropsychiatric Hospital, University of California-Los Angeles, Los Angeles, CA, 90095, USA.
Matthew Herzog
5Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, 90095, USA
Agnes H. Chen
6Department of Pediatrics, David Geffen School of Medicine, University of California-Losy Angeles, Los Angeles, CA, 90095, USA
8Division of Pediatric Neurology, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA
Patricia I. Dickson
8Division of Pediatric Neurology, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA
Henry J. Lin
8Division of Pediatric Neurology, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA
Moin U. Vera
8Division of Pediatric Neurology, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA
Noriko Salamon
9Department of Radiology, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, 90095 USA
Damara Ortiz
10Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, 15224, USA
Elena Infante
10Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, 15224, USA
Wouter Steyaert
11Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
Bart Dermaut
11Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
Bruce Poppe
11Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
Hyung-Lok Chung
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Zhongyuan Zuo
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Pei-Tseng Lee
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Oguz Kanca
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Fan Xia
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Yaping Yang
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Edward C. Smith
12Division of Neurology, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Joan Jasien
12Division of Neurology, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Sujay Kansagra
12Division of Neurology, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Gail Spiridigliozzi
13Department of Psychiatry and Behavioral Sciences, Duke Health, Durham, NC, 27710, USA
Mays El-Dairi
14Department of Ophthalmology, Duke Health, Durham, NC, 27710, USA
Robert Lark
15Department of Orthopedic Surgery, Duke Health, Durham, NC, 27710, USA
Kacie Riley
2Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Dwight D. Koeberl
2Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Katie Golden-Grant
16Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA, 98105, USA
Shinya Yamamoto
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
17Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA
18Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, 77030, USA
19Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA
Michael F. Wangler
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
17Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA
18Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, 77030, USA
Ghayda Mirzaa
20Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, 98105, USA
21Department of Pediatrics, University of Washington, Seattle, WA, 98105, USA
Dimitri Hemelsoet
22Department of Neurology, Ghent University Hospital, Ghent, Belgium
Brendan Lee
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
Stanley F. Nelson
5Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, 90095, USA
David B. Goldstein
3Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, 10032, USA
Hugo J. Bellen
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
17Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA
18Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, 77030, USA
19Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA
23Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, 77030, USA
Loren D.M. Pena
2Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
Article usage
Posted May 15, 2018.
Loss-of-function in IRF2BPL is associated with neurological phenotypes
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia I. Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyung-Lok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail Spiridigliozzi, Mays El-Dairi, Robert Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden-Grant, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D.M. Pena
bioRxiv 322495; doi: https://doi.org/10.1101/322495
Loss-of-function in IRF2BPL is associated with neurological phenotypes
Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A Martínez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia I. Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyung-Lok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail Spiridigliozzi, Mays El-Dairi, Robert Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden-Grant, Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D.M. Pena
bioRxiv 322495; doi: https://doi.org/10.1101/322495
Subject Area
Subject Areas
- Biochemistry (11715)
- Bioengineering (8723)
- Bioinformatics (29128)
- Biophysics (14935)
- Cancer Biology (12049)
- Cell Biology (17359)
- Clinical Trials (138)
- Developmental Biology (9406)
- Ecology (14144)
- Epidemiology (2067)
- Evolutionary Biology (18268)
- Genetics (12221)
- Genomics (16767)
- Immunology (11843)
- Microbiology (28014)
- Molecular Biology (11560)
- Neuroscience (60810)
- Paleontology (450)
- Pathology (1864)
- Pharmacology and Toxicology (3231)
- Physiology (4940)
- Plant Biology (10384)
- Synthetic Biology (2878)
- Systems Biology (7333)
- Zoology (1642)