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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
By:
- Vona, Barbara;
- Mazaheri, Neda;
- Lin, Sheng-Jia;
- Dunbar, Lucy A.;
- Maroofian, Reza;
- Azaiez, Hela;
- Booth, Kevin T.;
- Vitry, Sandrine;
- Rad, Aboulfazl;
- Rüschendorf, Franz;
- Varshney, Pratishtha;
- Fowler, Ben;
- Beetz, Christian;
- Alagramam, Kumar N.;
- Murphy, David;
- Shariati, Gholamreza;
- Sedaghat, Alireza;
- Houlden, Henry;
- Petree, Cassidy;
- VijayKumar, Shruthi
Publication type:
Article
The epigenetic factor Kmt2a/Mll1 regulates neural progenitor proliferation and neuronal and glial differentiation.
Published in:
Developmental Neurobiology (19328451), 2015, v. 75, n. 5, p. 452, doi. 10.1002/dneu.22235
By:
- Huang, Yin‐Cheng;
- Shih, Hung‐Yu;
- Lin, Sheng‐Jia;
- Chiu, Ching‐Chi;
- Ma, Tsu‐Lin;
- Yeh, Tu‐Hsueh;
- Cheng, Yi‐Chuan
Publication type:
Article
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
By:
- Bögershausen, Nina;
- Krawczyk, Hannah E.;
- Jamra, Rami A.;
- Lin, Sheng‐Jia;
- Yigit, Gökhan;
- Hüning, Irina;
- Polo, Anna M.;
- Vona, Barbara;
- Huang, Kevin;
- Schmidt, Julia;
- Altmüller, Janine;
- Luppe, Johannes;
- Platzer, Konrad;
- Dörgeloh, Beate B.;
- Busche, Andreas;
- Biskup, Saskia;
- Mendes, Marisa I.;
- Smith, Desiree E. C.;
- Salomons, Gajja S.;
- Zibat, Arne
Publication type:
Article
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. 1472, doi. 10.1002/humu.24435
By:
- Lin, Sheng‐Jia;
- Vona, Barbara;
- Porter, Hillary M.;
- Izadi, Mahmoud;
- Huang, Kevin;
- Lacassie, Yves;
- Rosenfeld, Jill A.;
- Khan, Saadullah;
- Petree, Cassidy;
- Ali, Tayyiba A.;
- Muhammad, Nazif;
- Khan, Sher A.;
- Muhammad, Noor;
- Liu, Pengfei;
- Haymon, Marie‐Louise;
- Rüschendorf, Franz;
- Kong, Il‐Keun;
- Schnapp, Linda;
- Shur, Natasha;
- Chorich, Lynn
Publication type:
Article
Front Cover, Volume 43, Issue 10.
Published in:
Human Mutation, 2022, v. 43, n. 10, p. i, doi. 10.1002/humu.24464
By:
- Lin, Sheng‐Jia;
- Vona, Barbara;
- Porter, Hillary M.;
- Izadi, Mahmoud;
- Huang, Kevin;
- Lacassie, Yves;
- Rosenfeld, Jill A.;
- Khan, Saadullah;
- Petree, Cassidy;
- Ali, Tayyiba A.;
- Muhammad, Nazif;
- Khan, Sher A.;
- Muhammad, Noor;
- Liu, Pengfei;
- Haymon, Marie‐Louise;
- Rüschendorf, Franz;
- Kong, Il‐Keun;
- Schnapp, Linda;
- Shur, Natasha;
- Chorich, Lynn
Publication type:
Article
Zebrafish rgs4 is essential for motility and axonogenesis mediated by Akt signaling.
Published in:
Cellular & Molecular Life Sciences, 2013, v. 70, n. 5, p. 935, doi. 10.1007/s00018-012-1178-z
By:
- Cheng, Yi-Chuan;
- Scotting, Paul;
- Hsu, Li-Sung;
- Lin, Sheng-Jia;
- Shih, Hung-Yu;
- Hsieh, Fu-Yu;
- Wu, Hui-Lan;
- Tsao, Chu-Li;
- Shen, Chia-Jung
Publication type:
Article
Cnr2 Is Important for Ribbon Synapse Maturation and Function in Hair Cells and Photoreceptors.
Published in:
Frontiers in Molecular Neuroscience, 2021, v. 13, p. N.PAG, doi. 10.3389/fnmol.2021.624265
By:
- Colón-Cruz, Luis;
- Rodriguez-Morales, Roberto;
- Santana-Cruz, Alexis;
- Cantres-Velez, Juan;
- Torrado-Tapias, Aranza;
- Lin, Sheng-Jia;
- Yudowski, Guillermo;
- Kensler, Robert;
- Marie, Bruno;
- Burgess, Shawn M.;
- Renaud, Olivier;
- Varshney, Gaurav K.;
- Behra, Martine
Publication type:
Article
Spatiotemporal expression of foxo4, foxo6a, and foxo6b in the developing brain and retina are transcriptionally regulated by PI3K signaling in zebrafish.
Published in:
Development Genes & Evolution, 2017, v. 227, n. 3, p. 219, doi. 10.1007/s00427-017-0575-6
By:
- Lin, Sheng-Jia;
- Chiang, Ming-Chang;
- Shih, Hung-Yu;
- Chiang, Kun-Chun;
- Cheng, Yi-Chuan
Publication type:
Article
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1436, doi. 10.1093/brain/awad380
By:
- Kaiyrzhanov, Rauan;
- Rad, Aboulfazl;
- Lin, Sheng-Jia;
- Bertoli-Avella, Aida;
- Kallemeijn, Wouter W;
- Godwin, Annie;
- Zaki, Maha S;
- Huang, Kevin;
- Lau, Tracy;
- Petree, Cassidy;
- Efthymiou, Stephanie;
- Karimiani, Ehsan Ghayoor;
- Hempel, Maja;
- Normand, Elizabeth A;
- Rudnik-Schöneborn, Sabine;
- Schatz, Ulrich A;
- Baggelaar, Marc P;
- Ilyas, Muhammad;
- Sultan, Tipu;
- Alvi, Javeria Raza
Publication type:
Article
Bmp5 Regulates Neural Crest Cell Survival and Proliferation via Two Different Signaling Pathways.
Published in:
Stem Cells, 2017, v. 35, n. 4, p. 1003, doi. 10.1002/stem.2533
By:
- Shih, Hung-Yu;
- Hsu, Shu-Yuan;
- Ouyang, Pin;
- Lin, Sheng-Jia;
- Chou, Ting-Yun;
- Chiang, Ming-Chang;
- Cheng, Yi-Chuan
Publication type:
Article
ABE-ultramax for high-efficiency biallelic adenine base editing in zebrafish.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49943-1
By:
- Qin, Wei;
- Liang, Fang;
- Lin, Sheng-Jia;
- Petree, Cassidy;
- Huang, Kevin;
- Zhang, Yu;
- Li, Lin;
- Varshney, Pratishtha;
- Mourrain, Philippe;
- Liu, Yanmei;
- Varshney, Gaurav K.
Publication type:
Article
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
By:
- Lin, Sheng-Jia;
- Vona, Barbara;
- Lau, Tracy;
- Huang, Kevin;
- Zaki, Maha S.;
- Aldeen, Huda Shujaa;
- Karimiani, Ehsan Ghayoor;
- Rocca, Clarissa;
- Noureldeen, Mahmoud M.;
- Saad, Ahmed K.;
- Petree, Cassidy;
- Bartolomaeus, Tobias;
- Abou Jamra, Rami;
- Zifarelli, Giovanni;
- Gotkhindikar, Aditi;
- Wentzensen, Ingrid M.;
- Liao, Mingjuan;
- Cork, Emalyn Elise;
- Varshney, Pratishtha;
- Hashemi, Narges
Publication type:
Article

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