Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Pratishtha Varshney"'
Autor:
Wei Qin, Fang Liang, Sheng-Jia Lin, Cassidy Petree, Kevin Huang, Yu Zhang, Lin Li, Pratishtha Varshney, Philippe Mourrain, Yanmei Liu, Gaurav K. Varshney
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Advancements in CRISPR technology, particularly the development of base editors, revolutionize genetic variant research. When combined with model organisms like zebrafish, base editors significantly accelerate and refine in vivo analysis of
Externí odkaz:
https://doaj.org/article/b54b641e8c0c4138aa73c3df5d38c836
Autor:
Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association rema
Externí odkaz:
https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 7 (2019)
The study of model organisms has revolutionized our understanding of the mechanisms underlying normal development, adult homeostasis, and human disease. Much of what we know about gene function in model organisms (and its application to humans) has c
Externí odkaz:
https://doaj.org/article/8d45efd05ed44b1caead196a83914dcf
Publikováno v:
Lab Animal. 51:287-289
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e23740f9f8200a9b1111a78da7475d3
https://doi.org/10.1038/s41684-022-01076-y
https://doi.org/10.1038/s41684-022-01076-y
Autor:
Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Héctor Adrián Díaz Hernández, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, J.C. Ambrose, P. Arumugam, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, T. Fowler, A. Giess, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, E.R.A. Thomas, S.R. Thompson, A. Tucci, E. Walsh, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, null Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)
Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91f3ae350cc512f0b956a6e8d9210c51
https://pubmed.ncbi.nlm.nih.gov/34172899
https://pubmed.ncbi.nlm.nih.gov/34172899
Autor:
Henry Houlden, Thomas Haaf, Pratishtha Varshney, Christian Beetz, Hamid Galehdari, Lucy A Dunbar, Alireza Sedaghat, Richard J.H. Smith, Michael R. Bowl, Aziz El-Amraoui, Kevin T. Booth, David Murphy, Neda Mazaheri, Sandrine Vitry, Kumar N. Alagramam, Ben Fowler, Shruthi VijayKumar, Aboulfazl Rad, Hela Azaiez, Cassidy Petree, Barbara Vona, Sheng-Jia Lin, Gholamreza Shariati, Reza Maroofian, Franz Rüschendorf, Gaurav K. Varshney
Publikováno v:
Human Genetics
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec2c6de213429b2f5213b9170fe9c29
https://doi.org/10.1007/s00439-020-02254-z
https://doi.org/10.1007/s00439-020-02254-z
Autor:
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A Dunbar, Reza Maroofian, Hela Azaiez, Kevin T. Booth, Sandrine Vitry, Aboulfazl Rad, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N. Alagramam, David Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Shruthi VijayKumar, Richard J. H. Smith, Thomas Haaf, Aziz El-Amraoui, Michael R. Bowl, Gaurav K. Varshney, Hamid Galehdari
Deafness, the most frequent sensory deficit in humans, is extremely heterogenous with hundreds of genes probably involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80aa4661411e30ac306719296e57cf2c
https://doi.org/10.1101/2020.07.29.222828
https://doi.org/10.1101/2020.07.29.222828