Histone H2A monoubiquitination in neurodevelopmental disorders

по Srivastava, Anshika, McGrath, Brian, Bielas, Stephanie L.
Опубликовано в: Trends Genet (2017)

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

по Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
Опубликовано в: J Hum Genet (2018)

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

по Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Опубликовано в: J Hum Genet (2018)

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia

по Hebbar, Malavika, Girisha, Katta M., Srivastava, Anshika, Bielas, Stephanie, Shukla, Anju
Опубликовано в: Eur J Med Genet (2017)

Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature

по Shukla, Anju, Upadhyai, Priyanka, Shah, Jhanvi, K, Neethukrishna, Bielas, Stephanie, KM, Girisha
Опубликовано в: Eur J Med Genet (2016)

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

по Kanthi, Anil, Hebbar, Malavika, Bielas, Stephanie L, Girisha, Katta M, Shukla, Anju
Опубликовано в: Eur J Med Genet (2018)

Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

по Lichtig, Hava, Artamonov, Artyom, Polevoy, Hanna, Reid, Christine D., Bielas, Stephanie L., Frank, Dale
Опубликовано в: Front Physiol (2020)

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

по Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.
Опубликовано в: J Pediatr Genet (2017)

Off-target effect of doublecortin-family shRNA on neuronal migration associated with endogenous microRNA dysregulation

по Baek, Seung Tae, Kerjan, Geraldine, Bielas, Stephanie L., Lee, Ji Eun, Fenstermaker, Ali G., Novarino, Gaia, Gleeson, Joseph G.
Опубликовано 2014

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

по Shukla, Anju, Hebbar, Malavika, Srivastava, Anshika, Kadavigere, Rajagopal, Upadhyai, Priyanka, Kanthi, Anil, Brandau, Oliver, Bielas, Stephanie, Girisha, Katta M
Опубликовано в: J Hum Genet (2017)

Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature

по Galada, Chelna, Hebbar, Malavika, Lewis, Leslie, Soans, Santosh, Kadavigere, Rajagopal, Srivastava, Anshika, Bielas, Stephanie, Girisha, Katta M, Shukla, Anju
Опубликовано в: Congenit Anom (Kyoto) (2018)

Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum

по Aleem, Alice Abdel, Abu-Shahba, Nourhan, Swistun, Dominika, Silhavy, Jennifer, Bielas, Stephanie L., Sattar, Shifteh, Gleeson, Joseph G., Zaki, Maha
Опубликовано 2010

Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes

по Ufford, Kathryn, Friedline, Sabrina, Tong, Zhaowen, Tang, Vi T., Dobbs, Amani S., Tsan, Yao-Chang, Bielas, Stephanie L., Liu, Allen P., Helms, Adam S.
Опубликовано в: Stem Cell Reports (2021)

Spinophilin Facilitates PP1-Mediated Dephosphorylation of PSer297 Doublecortin in Microtubule Bundling at the Axonal “Wrist”

по Bielas, Stephanie L., Serneo, Finley F., Chechlacz, Magdalena, Deerinck, Thomas J., Perkins, Guy A., Allen, Patrick B., Ellisman, Mark H., Gleeson, Joseph G.
Опубликовано 2007

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

по Srivastava, Anshika, Srivastava, Kinshuk Raj, Hebbar, Malavika, Galada, Chelna, Kadavigrere, Rajagopal, Su, Fengyun, Cao, Xuhong, Chinnaiyan, Arul M., Girisha, Katta M., Shukla, Anju, Bielas, Stephanie L.
Опубликовано в: Eur J Hum Genet (2018)

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

по Moccia, Amanda, Srivastava, Anshika, Skidmore, Jennifer M., Bernat, John A., Wheeler, Marsha, X.Chong, Jessica, Nickerson, Deborah, Bamshad, Michael, Hefner, Margaret A., Martin, Donna M., Bielas, Stephanie L.
Опубликовано в: Genet Med (2018)

Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C

по Hebbar, Malavika, Prasada L, Harsha, Bhowmik, Aneek Das, Trujillano, Daniel, Shukla, Anju, Chakraborti, Shrijeet, Kandaswamy, Krishna Kumar, Rolfs, Arndt, Kamath, Nutan, Dalal, Ashwin, Bielas, Stephanie, Girisha, Katta Mohan
Опубликовано в: Am J Med Genet A (2016)

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

по Srivastava, Anshika, Ritesh, K.C., Tsan, Yao-Chang, Liao, Rosy, Su, Fengyun, Cao, Xuhong, Hannibal, Mark C., Keegan, Catherine E., Chinnaiyan, Arul M., Martin, Donna M., Bielas, Stephanie L.
Опубликовано в: Hum Mol Genet (2016)

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

по Bélanger, Catherine, Bérubé-Simard, Félix-Antoine, Leduc, Elizabeth, Bernas, Guillaume, Campeau, Philippe M., Lalani, Seema R., Martin, Donna M., Bielas, Stephanie, Moccia, Amanda, Srivastava, Anshika, Silversides, David W., Pilon, Nicolas
Опубликовано в: Proc Natl Acad Sci U S A (2018)

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

по Harding, Brian N., Moccia, Amanda, Drunat, Séverine, Soukarieh, Omar, Tubeuf, Hélène, Chitty, Lyn S., Verloes, Alain, Gressens, Pierre, El Ghouzzi, Vincent, Joriot, Sylvie, Di Cunto, Ferdinando, Martins, Alexandra, Passemard, Sandrine, Bielas, Stephanie L.
Опубликовано в: Am J Hum Genet (2016)