S. Bielas

发表

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Vineet Bafna, Nitin Udpa, Carrie Sougnez, 2012, Science Translational Medicine.

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

K. Girisha, A. Shukla, S. Nampoothiri, 2021, European Journal of Human Genetics.

Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation detection

D. Burke, J. Shavit, A. Srivastava, 2016, Scientific Reports.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Donna M. Martin, J. Rosenfeld, N. Boddaert, 2018, Human mutation.

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

E. Bertini, S. Schurmans, H. Kayserili, 2009, Nature Genetics.

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

Donna M. Martin, A. Chinnaiyan, Xuhong Cao, 2016, Human molecular genetics.

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

K. Girisha, A. Shukla, M. Hebbar, 2019, European journal of medical genetics.

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

K. Girisha, A. Shukla, M. Hebbar, 2018, Journal of Human Genetics.

Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

K. Girisha, A. Shukla, S. Nampoothiri, 2018, Journal of Human Genetics.

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

S. Nelson, H. Kayserili, J. Gleeson, 2017, Journal of Medical Genetics.

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

Allen P. Liu, Adam S. Helms, S. Bielas, 2021, Stem cell reports.

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

Allen P. Liu, Adam S. Helms, S. Bielas, 2020, bioRxiv.

Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

J. Stephen, K. Girisha, A. Shukla, 2021, Clinical genetics.

Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

D. Frank, C. Reid, S. Bielas, 2020, Frontiers in Physiology.

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

H. Freeze, S. Houliston, H. Bokhoven, 2010, Cell.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

E. Bertini, R. Hennekam, H. Kayserili, 2007, American journal of human genetics.

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

K. Girisha, A. Shukla, M. Hebbar, 2017, Journal of Human Genetics.

Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

K. Girisha, A. Shukla, S. Bielas, 2020, American journal of medical genetics. Part A.

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

R. Pfundt, R. Louie, K. Girisha, 2022, bioRxiv.

Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome

K. Girisha, A. Shukla, M. Hebbar, 2016, bioRxiv.

Cortical neuronal migration mutants suggest separate but intersecting pathways.

J. Gleeson, S. Bielas, Holden Higginbotham, 2004, Annual review of cell and developmental biology.

Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation.

B. Garcia, Y. Dou, Chunaram Choudhary, 2020, Cell stem cell.

Histone H2A Monoubiquitination in Neurodevelopmental Disorders.

Brian R. McGrath, A. Srivastava, S. Bielas, 2017, Trends in genetics : TIG.

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Colin A. Johnson, I. Glass, F. Brancati, 2008, American journal of human genetics.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

K. Girisha, A. Shukla, H. Shah, 2021, Clinical genetics.

CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression

Stephen C. J. Parker, Donna M. Martin, P. Scacheri, 2020, Scientific Reports.

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Donna M. Martin, S. Lalani, Philippe M. Campeau, 2018, Proceedings of the National Academy of Sciences.

Transgenic Mouse Line with Green-fluorescent Protein-labeled Centrin 2 allows Visualization of the Centrosome in Living Cells

Joseph G. Gleeson, J. Gleeson, S. Bielas, 2004, Transgenic Research.

Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.

K. Girisha, A. Shukla, S. Bielas, 2017, European journal of medical genetics.

Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation

Ji Eun Lee, Joseph G. Gleeson, J. Gleeson, 2014, Neuron.

Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist

T. Deerinck, Mark Ellisman, P. Allen, 2007, Cell.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Colin A. Johnson, S. Gabriel, N. Katsanis, 2012, Science.

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

J. Gleeson, M. Zaki, J. Silhavy, 2011, European journal of medical genetics.

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

Donna M. Martin, Ayesha Ahmad, M. Hannibal, 2019, Pediatric Research.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

S. Gabriel, A. Caglayan, H. Kaymakçalan, 2016, American journal of human genetics.

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Colin A. Johnson, S. Nelson, B. Merriman, 2011, Nature Genetics.

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

B. Harding, P. Gressens, F. Di Cunto, 2016, American journal of human genetics.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Donna M. Martin, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.

Cytoskeletal-associated proteins in the migration of cortical neurons.

J. Gleeson, S. Bielas, 2004, Journal of neurobiology.

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature

K. Girisha, A. Shukla, S. Bielas, 2020, Clinical dysmorphology.

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

A. Chinnaiyan, Xuhong Cao, K. Girisha, 2018, European Journal of Human Genetics.

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

K. Girisha, A. Shukla, M. Hebbar, 2018, Congenital anomalies.

H2A monoubiquitination: insights from human genetics and animal models.

S. Bielas, Emily Peirent, Charles W Ryan, 2023, Human genetics.

Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage

B. Harding, L. Bonfanti, F. Di Cunto, 2022, Nature Communications.

SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation

H. Freeze, R. Wevers, J. Gleeson, 2010 .

Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa

James T. Elder, J. Voorhees, L. Tsoi, 2018, Annals of the rheumatic diseases.

Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist

T. Deerinck, Mark Ellisman, P. Allen, 2007, Cell.

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

A. Chinnaiyan, Xuhong Cao, K. Girisha, 2018, European Journal of Human Genetics.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Donna M. Martin, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

K. Kandaswamy, D. Trujillano, A. Rolfs, 2016, American journal of medical genetics. Part A.

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

M. Bamshad, D. M. Martin, T. Pierson, 2023, HGG advances.

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy

K. Girisha, A. Shukla, S. Siddiqui, 2023, American journal of medical genetics. Part A.

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

Donna M. Martin, A. Chinnaiyan, Xuhong Cao, 2016, Human molecular genetics.

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

K. Girisha, A. Shukla, M. Hebbar, 2017, European journal of medical genetics.

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

K. Kandaswamy, D. Trujillano, A. Rolfs, 2016, American journal of medical genetics. Part A.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

R. Pfundt, R. Louie, K. Girisha, 2024, Nature communications.

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications

K. Girisha, A. Shukla, S. Nampoothiri, 2024, Clinical Genetics.

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

M. Kabra, S. Phadke, K. Mandal, 2021, Human mutation.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

V. Narayanan, N. Orenstein, J. Giltay, 2024, Cell death & disease.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

K. Girisha, A. Shukla, S. Nampoothiri, 2023, European journal of human genetics : EJHG.

Quiescence enables unrestricted cell fate in naive embryonic stem cells

C. Harris, S. Kalantry, C. Lyssiotis, 2024, Nature communications.