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Search Results - Ghosh, Shereen G.
Search Results - Ghosh, Shereen G.
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
by
Ghosh, Shereen G.
,
Becker, Kerstin
,
Huang, He
,
Dixon-Salazar, Tracy
,
Chai, Guoliang
,
Salpietro, Vincenzo
,
Al-Gazali, Lihadh
,
Waisfisz, Quinten
,
Wang, Haicui
,
Vaux, Keith K.
,
Stanley, Valentina
,
Manole, Andreea
,
Akpulat, Ugur
,
Weiss, Marjan M.
,
Efthymiou, Stephanie
,
Hanna, Michael G.
,
Minetti, Carlo
,
Striano, Pasquale
,
Pisciotta, Livia
,
De Grandis, Elisa
,
Altmüller, Janine
,
Weixler, Lisa
,
Nürnberg, Peter
,
Thiele, Holger
,
Yis, Uluc
,
Okur, Tuncay Derya
,
Polat, Ayse Ipek
,
Amiri, Nafise
,
Doosti, Mohammad
,
Karimani, Ehsan Ghayoor
,
Toosi, Mehran B.
,
Haddad, Gabriel
,
Karakaya, Mert
,
Wirth, Brunhilde
,
van Hagen, Johanna M.
,
Wolf, Nicole I.
,
Maroofian, Reza
,
Houlden, Henry
,
Cirak, Sebahattin
,
Gleeson, Joseph G.
Published in
American journal of human genetics
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2
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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
by
Ghosh, Shereen G
,
Lee, Sangmoon
,
Fabunan, Rudy
,
Chai, Guoliang
,
Zaki, Maha S
,
Abdel-Salam, Ghada
,
Sultan, Tipu
,
Ben-Omran, Tawfeg
,
Alvi, Javeria Raza
,
McEvoy-Venneri, Jennifer
,
Stanley, Valentina
,
Patel, Aakash
,
Ross, Danica
,
Ding, Jeffrey
,
Jain, Mohit
,
Pan, Daqiang
,
Lübbert, Philipp
,
Kammerer, Bernd
,
Wiedemann, Nils
,
Verhoeven-Duif, Nanda M
,
Jans, Judith J
,
Murphy, David
,
Toosi, Mehran Beiraghi
,
Ashrafzadeh, Farah
,
Imannezhad, Shima
,
Karimiani, Ehsan Ghayoor
,
Ibrahim, Khalid
,
Waters, Elizabeth R
,
Maroofian, Reza
,
Gleeson, Joseph G
Published in
Genetics in medicine
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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
by
Ghosh, Shereen G
,
Breuss, Martin W
,
Schlachetzki, Zinayida
,
Chai, Guoliang
,
Ross, Danica
,
Stanley, Valentina
,
Sonmez, F Mujgan
,
Topaloglu, Haluk
,
Zaki, Maha S
,
Hosny, Heba
,
Gad, Shaimaa
,
Gleeson, Joseph G
Published in
European journal of human genetics : EJHG
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4
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
by
Ghosh, Shereen G
,
Becker, Kerstin
,
Huang, He
,
Salazar, Tracy D
,
Chai, Guoliang
,
Salpietro, Vincenzo
,
Al-Gazali, Lihadh
,
Waisfisz, Quinten
,
Wang, Haicui
,
Vaux, Keith K
,
Stanley, Valentina
,
Manole, Andreea
,
Akpulat, Ugur
,
Weiss, Marjan M
,
Efthymiou, Stephanie
,
Hanna, Michael G
,
Minetti, Carlo
,
Striano, Pasquale
,
Pisciotta, Livia
,
De Grandis, Elisa
,
Altmüller, Janine
,
Weixler, Lisa
,
Nürnberg, Peter
,
Thiele, Holger
,
Yis, Uluc
,
Okur, Tuncay Derya
,
Polat, Ayse Ipek
,
Amiri, Nafise
,
Doosti, Mohammad
,
Karimani, Ehsan Ghayoor
,
Toosi, Mehran B
,
Haddad, Gabriel
,
Karakaya, Mert
,
Wirth, Brunhilde
,
van Hagen, Johanna M
,
Wolf, Nicole I
,
Maroofian, Reza
,
Houlden, Henry
,
Cirak, Sebahattin
,
Gleeson, Joseph G
Published in
American journal of human genetics
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5
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
by
Ghosh, Shereen G
,
Scala, Marcello
,
Beetz, Christian
,
Helman, Guy
,
Stanley, Valentina
,
Yang, Xiaoxu
,
Breuss, Martin W
,
Mazaheri, Neda
,
Selim, Laila
,
Hadipour, Fatemeh
,
Pais, Lynn
,
Stutterd, Chloe A
,
Karageorgou, Vasiliki
,
Begtrup, Amber
,
Crunk, Amy
,
Juusola, Jane
,
Willaert, Rebecca
,
Flore, Leigh A
,
Kennelly, Kelly
,
Spencer, Christopher
,
Brown, Martha
,
Trapane, Pamela
,
Hurst, Anna C E
,
Lane Rutledge, S
,
Goodloe, Dana H
,
McDonald, Marie T
,
Shashi, Vandana
,
Schoch, Kelly
,
Tomoum, Hoda
,
Zaitoun, Raghda
,
Hadipour, Zahra
,
Galehdari, Hamid
,
Pagnamenta, Alistair T
,
Mojarrad, Majid
,
Sedaghat, Alireza
,
Dias, Patrícia
,
Quintas, Sofia
,
Eslahi, Atiyeh
,
Shariati, Gholamreza
,
Bauer, Peter
,
Simons, Cas
,
Houlden, Henry
,
Issa, Mahmoud Y
,
Zaki, Maha S
,
Maroofian, Reza
,
Gleeson, Joseph G
Published in
European journal of human genetics : EJHG
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6
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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
by
Ghosh, Shereen G.
,
Becker, Kerstin
,
Huang, He
,
Dixon-Salazar, Tracy
,
Chai, Guoliang
,
Salpietro, Vincenzo
,
Al-Gazali, Lihadh
,
Waisfisz, Quinten
,
Wang, Haicui
,
Vaux, Keith K.
,
Stanley, Valentina
,
Manole, Andreea
,
Akpulat, Ugur
,
Weiss, Marjan M.
,
Efthymiou, Stephanie
,
Hanna, Michael G.
,
Minetti, Carlo
,
Striano, Pasquale
,
Pisciotta, Livia
,
De Grandis, Elisa
,
Altmüller, Janine
,
Nürnberg, Peter
,
Thiele, Holger
,
Yis, Uluc
,
Okur, Tuncay Derya
,
Polat, Ayse Ipek
,
Amiri, Nafise
,
Doosti, Mohammad
,
Karimani, Ehsan Ghayoor
,
Toosi, Mehran B.
,
Haddad, Gabriel
,
Karakaya, Mert
,
Wirth, Brunhilde
,
van Hagen, Johanna M.
,
Wolf, Nicole I.
,
Maroofian, Reza
,
Houlden, Henry
,
Cirak, Sebahattin
,
Gleeson, Joseph G.
Published in
American journal of human genetics
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7
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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
by
Wang, Lu
,
Li, Zhen
,
Sievert, David
,
Smith, Desirée E C
,
Mendes, Marisa I
,
Chen, Dillon Y
,
Stanley, Valentina
,
Ghosh, Shereen
,
Wang, Yulu
,
Kara, Majdi
,
Aslanger, Ayca Dilruba
,
Rosti, Rasim O
,
Houlden, Henry
,
Salomons, Gajja S
,
Gleeson, Joseph G
Published in
Nature communications
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8
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Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair
by
Hanzlikova, Hana
,
Prokhorova, Evgeniia
,
Krejcikova, Katerina
,
Cihlarova, Zuzana
,
Kalasova, Ilona
,
Kubovciak, Jan
,
Sachova, Jana
,
Hailstone, Richard
,
Brazina, Jan
,
Ghosh, Shereen
,
Cirak, Sebahattin
,
Gleeson, Joseph G
,
Ahel, Ivan
,
Caldecott, Keith W
Published in
Nature communications
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Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
by
Wang, Lu
,
Li, Zhen
,
Sievert, David
,
Smith, Desirée E C
,
Mendes, Marisa I
,
Chen, Dillon Y
,
Stanley, Valentina
,
Ghosh, Shereen
,
Wang, Yulu
,
Kara, Majdi
,
Aslanger, Ayca Dilruba
,
Rosti, Rasim O
,
Houlden, Henry
,
Salomons, Gajja S
,
Gleeson, Joseph G
Published in
Nature communications
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10
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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism
by
Wenderski, Wendy
,
Wang, Lu
,
Krokhotin, Andrey
,
Walsh, Jessica J.
,
Li, Hongjie
,
Shoji, Hirotaka
,
Ghosh, Shereen
,
George, Renee D.
,
Miller, Erik L.
,
Elias, Laura
,
Gillespie, Mark A.
,
Son, Esther Y.
,
Staahl, Brett T.
,
Baek, Seung Tae
,
Stanley, Valentina
,
Moncada, Cynthia
,
Shipony, Zohar
,
Linker, Sara B.
,
Marchetto, Maria C. N.
,
Gage, Fred H.
,
Chen, Dillon
,
Sultan, Tipu
,
Zaki, Maha S.
,
Ranish, Jeffrey A.
,
Miyakawa, Tsuyoshi
,
Luo, Liqun
,
Malenka, Robert C.
,
Crabtree, Gerald R.
,
Gleeson, Joseph G.
Published in
Proceedings of the National Academy of Sciences - PNAS
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