Publications by authors named "Shereen G Ghosh"

4Publications

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

Authors:
Shereen G Ghosh Sangmoon Lee Rudy Fabunan Guoliang Chai Maha S Zaki Ghada Abdel-Salam Tipu Sultan Tawfeg Ben-Omran Javeria Raza Alvi Jennifer McEvoy-Venneri Valentina Stanley Aakash Patel Danica Ross Jeffrey Ding Mohit Jain Daqiang Pan Philipp Lübbert Bernd Kammerer Nils Wiedemann Nanda M Verhoeven-Duif Judith J Jans David Murphy Mehran Beiraghi Toosi Farah Ashrafzadeh Shima Imannezhad Ehsan Ghayoor Karimiani Khalid Ibrahim Elizabeth R Waters Reza Maroofian Joseph G Gleeson

Genet Med 2020 Nov 14. Epub 2020 Nov 14.

Department of Neurosciences, University of California-San Diego, La Jolla, CA, USA.

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November 2020

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Authors:
Shereen G Ghosh Marcello Scala Christian Beetz Guy Helman Valentina Stanley Xiaoxu Yang Martin W Breuss Neda Mazaheri Laila Selim Fatemeh Hadipour Lynn Pais Chloe A Stutterd Vasiliki Karageorgou Amber Begtrup Amy Crunk Jane Juusola Rebecca Willaert Leigh A Flore Kelly Kennelly Christopher Spencer Martha Brown Pamela Trapane Anna C E Hurst S Lane Rutledge Dana H Goodloe Marie T McDonald Vandana Shashi Kelly Schoch Hoda Tomoum Raghda Zaitoun Zahra Hadipour Hamid Galehdari Alistair T Pagnamenta Majid Mojarrad Alireza Sedaghat Patrícia Dias Sofia Quintas Atiyeh Eslahi Gholamreza Shariati Peter Bauer Cas Simons Henry Houlden Mahmoud Y Issa Maha S Zaki Reza Maroofian Joseph G Gleeson

Eur J Hum Genet 2020 Sep 8. Epub 2020 Sep 8.

Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.

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September 2020

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Authors:
Shereen G Ghosh Kerstin Becker He Huang Tracy Dixon-Salazar Guoliang Chai Vincenzo Salpietro Lihadh Al-Gazali Quinten Waisfisz Haicui Wang Keith K Vaux Valentina Stanley Andreea Manole Ugur Akpulat Marjan M Weiss Stephanie Efthymiou Michael G Hanna Carlo Minetti Pasquale Striano Livia Pisciotta Elisa De Grandis Janine Altmüller Peter Nürnberg Holger Thiele Uluc Yis Tuncay Derya Okur Ayse Ipek Polat Nafise Amiri Mohammad Doosti Ehsan Ghayoor Karimani Mehran B Toosi Gabriel Haddad Mert Karakaya Brunhilde Wirth Johanna M van Hagen Nicole I Wolf Reza Maroofian Henry Houlden Sebahattin Cirak Joseph G Gleeson

Am J Hum Genet 2018 11;103(5):826

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November 2018

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Authors:
Shereen G Ghosh Kerstin Becker He Huang Tracy Dixon-Salazar Guoliang Chai Vincenzo Salpietro Lihadh Al-Gazali Quinten Waisfisz Haicui Wang Keith K Vaux Valentina Stanley Andreea Manole Ugur Akpulat Marjan M Weiss Stephanie Efthymiou Michael G Hanna Carlo Minetti Pasquale Striano Livia Pisciotta Elisa De Grandis Janine Altmüller Peter Nürnberg Holger Thiele Uluc Yis Tuncay Derya Okur Ayse Ipek Polat Nafise Amiri Mohammad Doosti Ehsan Ghayoor Karimani Mehran B Toosi Gabriel Haddad Mert Karakaya Brunhilde Wirth Johanna M van Hagen Nicole I Wolf Reza Maroofian Henry Houlden Sebahattin Cirak Joseph G Gleeson

Am J Hum Genet 2018 09 9;103(3):431-439. Epub 2018 Aug 9.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address:

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September 2018