Publications

Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, University of Washington Center for Mendelian Genomics, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular Biology.  Genet Med. 2018 Jan 4. doi: 10.1038/gim.2017.233.

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, Boddaert N12,14, Cantagrel V, Lewis AM, Scaglia F, Undiagnosed Diseases Network, Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 Jan 13. doi: 10.1002/humu.23400.

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. Congenit Anom (Kyoto). 2018 Feb 6. doi: 10.1111/cga.12275.

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. Proc Natl Acad Sci USA. 2018 Jan 23;115(4): E620-E629. doi: 10.1073/pnas.1715378115. Epub 2018 Jan 8.

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. J Pediatr Genet. 2017 Sep;6(3):191-193. doi: 10.1055/s-0037-1599148.

Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A. Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. Eur J of Med Gen. 2017 Oct;60(10):533-535. doi:10.1016/j.ejmg.2017.07.010.

Srivastava A, McGrath B, Bielas SL. Histone H2A Monoubiquitination in Neurodevelopmental Disorders. Trends in Genetics. 1370, 2017. Review.  doi:10.106/j.tig.2017.06.002

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas SL, Girisha KM. Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome. J Hum Genet. 2017. doi: 10.1038/hg.2017.35.

Rosti RO, Bielas SL, Sotak BN, 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, Kayserili H, Gleeson JG. Homozygous Mutation in NUP107 leads to Microcephaly with Steroid-Resistant Nephrotic Condition Similar to Galloway-Mowat Syndrome. J Med Genet. 2017 Mar 9; doi:10.1136/jmedgenet-2016-104237.

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.  Eur J Med Genet. 2016 Nov 29. pii: S1769-7212(16)30338-X. doi: 10.1016/j.ejmg.2016.11.006.

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. Sci Rep. 2016 Aug 25;6:32048. doi: 10.1038/srep32048.
 
Harding B, Moccia A, Soukarieh O, Drunat S, Chitty L, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Passemard S, Martins A, Di Cunto F, Bielas SL. Mutations in Citron-Kinase cause recessive micro-lissencephaly with multinucleated neurons. Am J Hum Genet. 2016.

Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, Chi NC, Gabriel S, Gunel M, Gleeson JG. Biallelic mutations in the kinase domain of citron link mitotic cytokinesis to human primary microcephaly. Am J Hum Genet. 2016.

Hebbarm M, Prasada H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas SL, Girisha KM. Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. Am J Med Genet A. 2016 Jun 8. doi: 10.1002/ajmg.a.37794

Srivastava A, KC R, 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. Hum. Mol. Genet. 2016 Feb 1;25(3):597-608. doi: 10.1093/hmg/ddv499.

Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti O, Kayserili H, Scott LC, Bertini E, Swistun D, Field SJ, Dallapiccola B , Majerus PW, Valente EM and Gleeson JG. Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies. Nat Genet. 2009 Sep;41(9):1032-6. 

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. 2007 May 4;129(3):579-91 
Reviewed in Current Biology. 2007 Aug 7; 17(15): R611-14. 
 
Baek ST, Kerjan G, Bielas SL, Lee JE, Fenstermaker AG, Novarino G, Gleeson JG. Off-Target Effect of doublecortin-family shRNA on Neuronal Migration is Associated with Endogenous MicroRNA Dysregulation. Neuron. 2014 Jun 18;82(6):1255-62. doi: 10.1016/j.neuron.2014.04.036.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Bielas SL, Schroth J, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Crawford AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG. Exome sequencing in the clinic can improve diagnosis and alter patient management.Sci Transl Med. 2012 Jun 13;4(138):138ra78. 

Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters E, Ferro-Novick S, Woods GC, Johnson CA, Valente EM, Zaki MS, Gleeson JG. Dissection of a human ciliopathy locus identifies a new cis- regulatory module assembled during vertebrate evolution. Science. 2012 Feb 24;335(6071):966-9. 

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, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. TSGA14 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012 Jan 15;44(2):193-9. 

Aleem AA, 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. Eur J Med Genet. 2011 Jan-Feb;54(1):82-5. 

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, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23;142(2):203-17. 

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, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug;83(2):170-9. 

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, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. 

Bielas S, Higginbotham H, Koizumi H, Tanaka T, Gleeson JG. Cortical neuronal migration mutants suggest separate but intersecting pathways. Annu Rev Cell Dev Biol. 

Bielas SL, Gleeson JG. Cytoskeletal-associated proteins in the migration of cortical neurons. J Neurobiol. 2004 Jan;58(1):149-59