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Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
View ORCID ProfileJessica X. Chong, View ORCID ProfileViviana Caputo, View ORCID ProfileIan G. Phelps, View ORCID ProfileLorenzo Stella, View ORCID ProfileLisa Worgan, View ORCID ProfileJennifer C. Dempsey, View ORCID ProfileAlina Nguyen, View ORCID ProfileVincenzo Leuzzi, View ORCID ProfileRichard Webster, View ORCID ProfileAntonio Pizzuti, View ORCID ProfileColby T. Marvin, View ORCID ProfileGisele E. Ishak, View ORCID ProfileSimone Ardern–Holmes, View ORCID ProfileZara Richmond, Univ of Washington Center for Mendelian Genomics, View ORCID ProfileMichael J. Bamshad, View ORCID ProfileXilma R. Ortiz-Gonzalez, View ORCID ProfileMarco Tartaglia, View ORCID ProfileMaya Chopra, View ORCID ProfileDan Doherty
doi: https://doi.org/10.1101/036111
Jessica X. Chong
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Viviana Caputo
2Dipartimento di Medicina Sperimentale, Università La Sapienza, 00161 Rome, Italy
Ian G. Phelps
3Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, 00133 Rome, Italy
Lorenzo Stella
3Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma Tor Vergata, 00133 Rome, Italy
Lisa Worgan
4Department of Clinical Genetics, Liverpool Hospital, Liverpool, NSW, Australia
Jennifer C. Dempsey
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Alina Nguyen
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Vincenzo Leuzzi
5Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy
Richard Webster
6T.Y. Nelson Department of Neurology and Neurosurgery
7Institute of Neuroscience and Muscle Research, the Children’s Hospital at Westmead
Antonio Pizzuti
2Dipartimento di Medicina Sperimentale, Università La Sapienza, 00161 Rome, Italy
Colby T. Marvin
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Gisele E. Ishak
8Department of Radiology, University of Washington, Seattle, WA 98195, USA
Simone Ardern–Holmes
7Institute of Neuroscience and Muscle Research, the Children’s Hospital at Westmead
Zara Richmond
9Department of Genomic Medicine, Royal Prince Alfred Hospital, Missenden Road, Camperdown, Sydney NSW, Australia
Michael J. Bamshad
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
10Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
11Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105
Xilma R. Ortiz-Gonzalez
12Division of Neurology, Children’s Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104
Marco Tartaglia
13Area di Ricerca “ Genetica e Malattie Rare”, Ospedale Pediatrico Bambino Gesù - IRCCS, 00146 Rome, Italy
Maya Chopra
14Department of Genomic Medicine, Royal Prince Alfred Hospital, Missenden Road, Camperdown, Sydney NSW, Australia
15School of Genomic Medicine, University of Sydney, Sydney, NSW Australia
16Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, West Gaoke Road, Pudong, Shanghai
Dan Doherty
1Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
11Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA 98105
Article usage
Posted January 06, 2016.
Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern–Holmes, Zara Richmond, Univ of Washington Center for Mendelian Genomics, Michael J. Bamshad, Xilma R. Ortiz-Gonzalez, Marco Tartaglia, Maya Chopra, Dan Doherty
bioRxiv 036111; doi: https://doi.org/10.1101/036111
Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern–Holmes, Zara Richmond, Univ of Washington Center for Mendelian Genomics, Michael J. Bamshad, Xilma R. Ortiz-Gonzalez, Marco Tartaglia, Maya Chopra, Dan Doherty
bioRxiv 036111; doi: https://doi.org/10.1101/036111
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