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Stephanie L. Bielas, Ph.D. - Publications

Affiliations: 
2007 Biology University of California, San Diego, La Jolla, CA 
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38 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, ... ... Bielas S, et al. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. European Journal of Human Genetics : Ejhg. PMID 38114583 DOI: 10.1038/s41431-023-01513-7  0.352
2023 Werren E, LaForce G, Srivast A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Heredia RJ, Karakoc-Aydiner E, Ozen A, ... ... Bielas S, et al. Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome. Research Square. PMID 37720017 DOI: 10.21203/rs.3.rs-2126145/v1  0.703
2020 Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A. Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature. Clinical Dysmorphology. PMID 32459673 DOI: 10.1097/Mcd.0000000000000327  0.335
2020 Lichtig H, Artamonov A, Polevoy H, Reid CD, Bielas SL, Frank D. Modeling Bainbridge-Ropers Syndrome in Embryos. Frontiers in Physiology. 11: 75. PMID 32132929 DOI: 10.3389/Fphys.2020.00075  0.472
2019 Somashekar PH, Narayanan DL, Jagadeesh S, Suresh B, Vaishnavi RD, Bielas S, Girisha KM, Shukla A. Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. American Journal of Medical Genetics. Part A. PMID 31670473 DOI: 10.1002/Ajmg.A.61388  0.367
2019 Ziats MN, Ahmad A, Bernat JA, Fisher R, Glassford M, Hannibal MC, Jacher JE, Weiser N, Keegan CE, Lee KN, Marzulla TB, O'Connor BC, Quinonez SC, Seemann L, Turner L, ... Bielas S, et al. Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. Pediatric Research. PMID 31618753 DOI: 10.1038/S41390-019-0611-5  0.335
2018 Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM. Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. Journal of Human Genetics. PMID 30337681 DOI: 10.1038/S10038-018-0523-Y  0.362
2018 Kanthi A, Hebbar M, Bielas SL, Girisha KM, Shukla A. Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. European Journal of Medical Genetics. PMID 30142437 DOI: 10.1016/J.Ejmg.2018.08.009  0.456
2018 Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. European Journal of Human Genetics : Ejhg. PMID 29976978 DOI: 10.1038/S41431-018-0209-0  0.322
2018 Hebbar M, Kanthi A, Shukla A, Bielas S, Girisha KM. A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome. Journal of Human Genetics. 63: 935-939. PMID 29695797 DOI: 10.1038/S10038-018-0462-7  0.432
2018 Galada C, Hebbar M, Lewis L, Soans S, Kadavigere R, Srivastava A, Bielas S, Girisha KM, Shukla A. Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. Congenital Anomalies. PMID 29405484 DOI: 10.1111/Cga.12275  0.374
2018 Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, et al. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Human Mutation. PMID 29330883 DOI: 10.1002/Humu.23400  0.732
2018 Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Proceedings of the National Academy of Sciences of the United States of America. PMID 29311329 DOI: 10.1073/Pnas.1715378115  0.487
2018 Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29300383 DOI: 10.1038/Gim.2017.233  0.433
2017 Nampoothiri S, Hebbar M, Roy AG, Kochumon SP, Bielas S, Shukla A, Girisha KM. Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3. Journal of Pediatric Genetics. 6: 191-193. PMID 28794914 DOI: 10.1055/S-0037-1599148  0.407
2017 Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A. Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. European Journal of Medical Genetics. PMID 28711739 DOI: 10.1016/J.Ejmg.2017.07.010  0.403
2017 Srivastava A, McGrath B, Bielas SL. Histone H2A Monoubiquitination in Neurodevelopmental Disorders. Trends in Genetics : Tig. PMID 28669576 DOI: 10.1016/J.Tig.2017.06.002  0.306
2017 Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM. Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. Journal of Human Genetics. PMID 28356563 DOI: 10.1038/Jhg.2017.35  0.399
2017 Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Journal of Medical Genetics. PMID 28280135 DOI: 10.1136/Jmedgenet-2016-104237  0.713
2016 Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S, Girisha KM. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. European Journal of Medical Genetics. PMID 27913285 DOI: 10.1016/J.Ejmg.2016.11.006  0.475
2016 Kc R, Srivastava A, Wilkowski JM, Richter CE, Shavit JA, Burke DT, Bielas SL. Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation detection. Scientific Reports. 6: 32048. PMID 27557703 DOI: 10.1038/Srep32048  0.328
2016 Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, Bielas SL. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. American Journal of Human Genetics. PMID 27453579 DOI: 10.1016/J.Ajhg.2016.07.003  0.479
2016 Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, et al. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal of Human Genetics. PMID 27453578 DOI: 10.1016/J.Ajhg.2016.07.004  0.622
2015 Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL. De novo Dominant ASXL3 Mutations Alter H2A Deubiquitination and Transcription in Bainbridge-Ropers Syndrome. Human Molecular Genetics. PMID 26647312 DOI: 10.1093/Hmg/Ddv499  0.466
2014 Baek ST, Kerjan G, Bielas SL, Lee JE, Fenstermaker AG, Novarino G, Gleeson JG. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron. 82: 1255-62. PMID 24945770 DOI: 10.1016/J.Neuron.2014.04.036  0.708
2012 Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4: 138ra78. PMID 22700954 DOI: 10.1126/scitranslmed.3003544  0.701
2012 Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9. PMID 22282472 DOI: 10.1126/Science.1213506  0.546
2012 Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/Ng.1078  0.767
2011 Abdel Aleem A, Abu-Shahba N, Swistun D, Silhavy J, Bielas SL, Sattar S, Gleeson JG, Zaki MS. Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum. European Journal of Medical Genetics. 54: 82-5. PMID 20971220 DOI: 10.1016/J.Ejmg.2010.10.006  0.62
2010 Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 142: 203-17. PMID 20637498 DOI: 10.1016/J.Cell.2010.06.001  0.747
2009 Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, et al. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature Genetics. 41: 1032-6. PMID 19668216 DOI: 10.1038/Ng.423  0.611
2008 Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/J.Ajhg.2008.06.023  0.769
2007 Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American Journal of Human Genetics. 81: 104-13. PMID 17564967 DOI: 10.1086/519026  0.649
2007 Bielas SL, Serneo FF, Chechlacz M, Deerinck TJ, Perkins GA, Allen PB, Ellisman MH, Gleeson JG. Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist. Cell. 129: 579-91. PMID 17482550 DOI: 10.1016/J.Cell.2007.03.023  0.48
2007 Bielas SL, Serneo FF, Chechlacz M, Deerinck TJ, Perkins GA, Allen P, Ellisman MH, Gleeson JG. Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist (DOI:10.1016/j.cell.2007.03.023) Cell. 129: 1227-1228. DOI: 10.1016/J.Cell.2007.05.040  0.457
2004 Bielas S, Higginbotham H, Koizumi H, Tanaka T, Gleeson JG. Cortical neuronal migration mutants suggest separate but intersecting pathways. Annual Review of Cell and Developmental Biology. 20: 593-618. PMID 15473853 DOI: 10.1146/Annurev.Cellbio.20.082503.103047  0.725
2004 Higginbotham H, Bielas S, Tanaka T, Gleeson JG. Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells. Transgenic Research. 13: 155-64. PMID 15198203 DOI: 10.1023/B:Trag.0000026071.41735.8E  0.707
2004 Bielas SL, Gleeson JG. Cytoskeletal-associated proteins in the migration of cortical neurons. Journal of Neurobiology. 58: 149-59. PMID 14598377 DOI: 10.1002/Neu.10280  0.527
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