Morton S and Henrietta K Sellner Professor of Human Genetics
Associate Professor of Human Genetics
Associate Chair, Department of Human Genetics
Associate Professor of Pediatrics
[email protected]
Available to mentor
Stephanie Bielas, PhD
Associate Professor
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.
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PhDUniversity of California, San Diego, San Diego, 2007
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BSAndrews University, Berrien Springs, 1997
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Center MemberGlobal REACH
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Center MemberPrecision Health Initiative
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Center MemberCenter for Cell Plasticity and Organ Design
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Toolan KP, McGrath BT, Brinkmeier ML, Camper SA, Bielas SL. Brain, 2024 Jun 30;Journal ArticleAsh1 l loss-of-function results in structural birth defects and altered cortical development.
DOI:10.1093/brain/awae218 PMID: 38943682 -
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. Nat Commun, 2024 Mar 12; 15 (1): 2215Journal ArticleAuthor Correction: Quiescence enables unrestricted cell fate in naive embryonic stem cells.
DOI:10.1038/s41467-024-46566-4 PMID: 38472240 -
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. Nat Commun, 2024 Feb 26; 15 (1): 1721Journal ArticleQuiescence enables unrestricted cell fate in naive embryonic stem cells.
DOI:10.1038/s41467-024-46121-1 PMID: 38409226 -
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. Nat Commun, 2024 Sep 10; 15 (1): 7931Journal ArticleRING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
DOI:10.1038/s41467-024-52292-8 PMID: 39256363 -
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 T-L, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Nat Commun, 2024 Feb 22; 15 (1): 1640Journal ArticleTREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
DOI:10.1038/s41467-024-45948-y PMID: 38388531 -
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, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Eur J Hum Genet, 2024 Oct; 32 (10): 1291 - 1298.Journal ArticleDe novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
DOI:10.1038/s41431-023-01513-7 PMID: 38114583 -
Pallavicini G, Moccia A, Iegiani G, Parolisi R, Peirent ER, Berto GE, Lorenzati M, Tshuva RY, Ferraro A, Balzac F, Turco E, Salvi SU, Myklebust HF, Wang S, Eisenberg J, Chitale M, Girgla NS, Boda E, Reiner O, Buffo A, Di Cunto F, Bielas SL. J Clin Invest, 2024 Nov 1; 134 (21):Journal ArticleModeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity.
DOI:10.1172/JCI175435 PMID: 39316437 -
Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure M, 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 Sep 18;Journal ArticleBiallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
DOI:10.1093/brain/awae299 PMID: 39292993
Department News
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
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
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
The honor is among the highest honors that the University of Michigan can bestow on a faculty member; the Medical School has more than 425 professorships, dating to 1898.
