Dr. Joshi Stephen

Department of Molecular and Human Genetics, Baylor College Of Medicine, Houston, Texas, USA

Postdoctoral Associate

Email: joshi.stephen@bcm.edu

Qualifications

2014 Ph.D., Sanjay Gandhi Postgraduate Institute of Medical Science, India.

Publications (Selected)

1. Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A. Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28. PMID: 33463720.
2. Yarnell DS, Roney JC, Teixeira C, Freitas MI, Cipriano A, Leuschner P, Krzewski K, Stephen J, Dorward H, Gahl WA, Gochuico BR, Toro C, Malicdan MC, Introne WJ. Diagnosis of Chediak Higashi disease in a 67-year old woman. Am J Med Genet A. 2020 Sep 29. doi: 10.1002/ajmg.a.61886. Epub ahead of print. PMID: 32990340.
3. Ates KM, Wang T, Moreland T, Veeranan-Karmegam R, Ma M, Jeter C, Anand P, Wenzel W, Kim HG, Wolfe LA, Stephen J, Adams DR, Markello T, Tifft CJ, Settlage R, Gahl WA, Gonsalvez GB, Malicdan MC, Flanagan-Steet H, Pan YA. Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. Dis Model Mech. 2020 May 26;13(5):dmm041913. doi: 10.1242/dmm.041913. PMID: 32152089; PMCID: PMC7272357.
4. Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. PubMed PMID: 30791930.
5. Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. PubMed PMID: 30526868.
6. Stephen J, Nampoothiri S, Kuppa S, Yesodharan D, Radhakrishnan N, Gahl WA, Malicdan MCV. Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. Am J Med Genet A. 2018 Dec 4. doi: 10.1002/ajmg.a.40658. [Epub ahead of print] PubMed PMID: 30513139.
7. Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV. Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. BMC Med Genet. 2018 May 16;19(1):80. doi: 10.1186/s12881-018-0597-6. PubMed PMID: 29769041; PubMed Central PMCID: PMC5956920.
8. Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24. PubMed PMID: 29691655.
9. Garland J*, Stephen J*, Class B*, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV. Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Mol Genet Genomic Med. 2017 Jun 14;5(4):410-417. doi: 10.1002/mgg3.300. eCollection 2017 Jul. PubMed PMID: 28717665; PubMed Central PMCID: PMC5511805. (*equal contribution).
10. Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. PubMed PMID: 27573165.
11. Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20. PubMed PMID: 28220259; PubMed Central PMCID: PMC5395200.
12. Barel O, Christine V Malicdan M, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y. Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. Brain. 2017 Mar 1;140(3):568-581. doi: 10.1093/brain/awx002. PubMed PMID: 28364549.
13. Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. PLoS One. 2017 Mar 15;12(3): e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017. PubMed PMID: 28296950; PubMed Central PMCID: PMC5351877.
14. Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Steinbach PJ, Gahl WA, Gunay-Aygun M. CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. Am J Med Genet A. 2017 Mar;173(3):661-666. doi: 10.1002/ ajmg.a.38005. Epub 2017 Jan 4. PubMed PMID: 28052552.
15. Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan. PubMed PMID: 28078312; PubMed Central PMCID: PMC5221474.
16. Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MC, Weiss B, Gahl WA, Anikster Y. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur J Hum Genet. 2016 Aug;24(9):1268-73. doi: 10.1038/ejhg.2016.5. Epub 2016 Feb 17. PubMed PMID: 26883093; PubMed Central PMCID: PMC4989215.

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