Stephanie Bielas, PhD
Morton S and Henrietta K Sellner Professor of Human Genetics
Associate Professor of Human Genetics
Associate Professor of Pediatrics
Medical School
[email protected]

Available to mentor

Stephanie Bielas, PhD
Associate Professor
  • About
  • Qualifications
  • Center Memberships
  • Recent Publications
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    About

    The Bielas lab leverages human neurogenetics to make novel discoveries about brain development, positioning our work at the intersection of basic science research and clinical care. The lab conduct translationally relevant functional studies in various species and tissue-types, which help demonstrate the molecular basis of neuropathology. Research in the Bielas lab can be categorized into three main themes: (1) human genetics of developmental disorders, (2) global disparities in access to genomic medicine, and (3) neurobiology of pathogenic mechanisms. Novel biological discoveries and resource development in each area facilitate functional studies that revealing novel biology, which when disrupted results in neurodevelopmental disorders and other impactful diseases.

    Qualifications
    • PhD
      University of California, San Diego, 2007
    • BS
      Andrews University, 1997
    Center Memberships
    • Center Member
      Global REACH
    • Center Member
      Precision Health Initiative
    • Center Member
      Center for Cell Plasticity and Organ Design
    Recent Publications See All Publications
    • Journal Article
      Ash1l loss-of-function results in structural birth defects and altered cortical development.
      Toolan KP, McGrath BT, Brinkmeier ML, Camper SA, Bielas SL. Brain, 2025 Jan 7; 148 (1): 55 - 68. DOI:10.1093/brain/awae218
      PMID: PMC11706301
    • Journal Article
      CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6
      Iegiani G, Pallavicini G, Pezzotta A, Brix A, Ferraro A, Gai M, Boda E, Bielas SL, Pistocchi A, Di Cunto F. Cell Death & Disease, 2025 Apr 21; 16 (1): 320 DOI:10.1038/s41419-025-07655-4
    • Journal Article
      Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
      Kaur N, do Rosario MC, Majethia P, Mascarenhas S, Rao LP, Nair KV, Hunakunti B, Prasannakumar AP, Naik R, Narayanan DL, Nayak SS, Bhat V, Sharma S, Ramesh Bhat Y, Yatheesha BL, Kulkarni R, Patil SJ, Nampoothiri S, Siddiqui S, Girisha KM, Bielas S, Shukla A. Am J Med Genet A, 2025 Mar; 197 (3): e63914 DOI:10.1002/ajmg.a.63914
      PMID: PMC7617591
    • Journal Article
      Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
      Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure MV, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan Y-C, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A. Brain, 2024 Dec 3; 147 (12): 4033 - 4042. DOI:10.1093/brain/awae299
      PMID: PMC11733690
    • Journal Article
      Correction to: Quiescence enables unrestricted cell fate in naive embryonic stem cells (Nature Communications, (2024), 15, 1, (1721), 10.1038/s41467-024-46121-1)
      Khoa LTP, Yang W, Shan M, Zhang L, Mao F, Zhou B, Li Q, Malcore R, Harris C, Zhao L, Rao RC, Iwase S, Kalantry S, Bielas SL, Lyssiotis CA, Dou Y. Nature Communications, 2024 Dec 1; 15 (1): DOI:10.1038/s41467-024-46566-4
      PMID: 38472240
    • Journal Article
      Quiescence enables unrestricted cell fate in naive embryonic stem cells
      Khoa LTP, Yang W, Shan M, Zhang L, Mao F, Zhou B, Li Q, Malcore R, Harris C, Zhao L, Rao R, Iwase S, Kalantry S, Bielas SL, Lyssiotis CA, Dou Y. Nature Communications, 2024 Dec 1; 15 (1): DOI:10.1038/s41467-024-46121-1
      PMID: 38409226
    • Journal Article
      RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis
      Ryan CW, Regan SL, Mills EF, McGrath BT, Gong E, Lai YT, Sheingold JB, Patel K, Horowitz T, Moccia A, Tsan YC, Srivastava A, Bielas SL. Nature Communications, 2024 Dec 1; 15 (1): DOI:10.1038/s41467-024-52292-8
      PMID: 39256363
    • Journal Article
      TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
      Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Nature Communications, 2024 Sep 25; 15 (1): DOI:10.1038/s41467-024-45948-y
    Featured News & Stories two award winners
    Department News
    Dr. Stephanie Bielas and Dr. Young Nam Park, honored with UMMS 2025 Endowment for Basic Sciences Awards
    Dr. Stephanie Bielas and Dr. Young Nam Park, honored with UMMS 2025 Endowment for Basic Sciences Awards
    2025 Endowment for Basic Sciences Awards
    Medical School News
    Eighteen from UMMS honored with 2025 Endowment for Basic Sciences Awards
    Nine Medical School faculty members and nine research staff members have been recognized for their contributions to teaching and research with Endowment for Basic Sciences (EBS) Awards for 2025. Each of the nine UMMS basic science departments select a winner for each award. This year’s recipients received their awards June 12 during a ceremony in the Medical School.
    Department News
    Highlighted Publications - February 2025
    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
    Department News
    Highlighted Publications - September 2024
    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
    Department News
    Highlighted Publications - June 2024
    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
    Department News
    Highlighted Publications - May 2024
    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.