Stephanie L Bielas (Stephanie Bielas, S L Bielas)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 26

Top Venues

Nature communications

Cell death & disease

Human genetics

Research square

University of California San Diego (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

University of California San Diego Aug 02 2000 - Dec 02 2007

United States

PHD :: Biology

Publications

Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Genevieve, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Renske Oegema, Richard H van Jaarsveld, Rafiullah Rafiullah, Gudrun A Rappold, Rachel Rabin, John G Pappas, Marsha M Wheeler, Michael J Bamshad, Yao-Chang Tsan, Matthew B Johnson, Catherine E Keegan, Anshika Srivastava, Stephanie L Bielas
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Cell death & disease 15 (5) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Charles W Ryan, S L Regan, E F Mills, B T McGrath, E Gong, Y T Lai, J B Sheingold, K Patel, T Horowitz, Amanda Moccia, Y C Tsan, A Srivastava, Stephanie L Bielas
RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis. Nature communications 15 (1) (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Genevieve, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Renske Oegema, Richard H van Jaarsveld, Rafiullah Rafiullah, Gudrun A Rappold, Rachel Rabin, John G Pappas, Marsha M Wheeler, Michael J Bamshad, Yao-Chang Tsan, Matthew B Johnson, Catherine E Keegan, Anshika Srivastava, Stephanie L Bielas
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Cell death & disease 15 (5) (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Author Correction: Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Kevin P Toolan, Brian T McGrath, Michelle L Brinkmeier, Sally Ann Camper, Stephanie L Bielas
Ash1 l loss-of-function results in structural birth defects and altered cortical development. Brain : a journal of neurology (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Author Correction: Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M Malcore, Clair Harris, Lili Zhao, Rajesh C Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie L Bielas, Costas A Lyssiotis, Nils O Lindström
Quiescence enables unrestricted cell fate in naive embryonic stem cells. Nature communications 15 (1) (2024)
Elizabeth A Werren, Geneva R LaForce, Anshika Srivastava, Delia R Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L Regan, Christian D Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E J Prijoles, Raymond J Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Genevieve, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Renske Oegema, Richard H van Jaarsveld, Rafiullah Rafiullah, Gudrun A Rappold, Rachel Rabin, John G Pappas, Marsha M Wheeler, Michael J Bamshad, Yao-Chang Tsan, Matthew B Johnson, Catherine E Keegan, Anshika Srivastava, Stephanie L Bielas
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations. Cell death & disease 15 (5) (2024)
Charles W Ryan, Emily R Peirent, Samantha L Regan, Alba Guxholli, Stephanie L Bielas
H2A monoubiquitination: insights from human genetics and animal models. Human genetics (2023)
Charles W Ryan, Emily R Peirent, Samantha L Regan, Alba Guxholli, Stephanie L Bielas
H2A monoubiquitination: insights from human genetics and animal models. Human genetics (2023)
Shruti Pande, Selinda Mascarenhas, Aishwarya Venkatraman, Vivekananda Bhat, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Stephanie L Bielas, Katta Mohan Girisha, Anju Shukla
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy. American journal of medical genetics. Part A (2023)
Charles W Ryan, Emily R Peirent, Samantha L Regan, Alba Guxholli, Stephanie L Bielas
H2A monoubiquitination: insights from human genetics and animal models. Human genetics (2023)
Elizabeth Werren, Geneva LaForce, Anshika Srivast, Delia Perillo, Katherine Johnson, Brandon Berger, Samantha Regan, Christian Pfennig, Safa Baris, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raul Jimenez Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, Eloise Prijoles, Raymond Louie, Robert Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T Gordon, Kaan Boztug, Katta Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome. Research square (2023)
Enrica Boda, Martina Lorenzati, Roberta Parolisi, Brian Harding, Gianmarco Pallavicini, Luca Bonfanti, Amanda Moccia, Stephanie L Bielas, Ferdinando Di Cunto, Annalisa Buffo
Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage. Nature communications 13 (1) (2022)
Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham S Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia-Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C Verma, Stephanie L Bielas, Shubha R Phadke, Ashwin Dalal, Katta Mohan Girisha
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians. Human mutation 42 (4) (2021)
Anshika Srivastava, Kinshuk Raj Srivastava, Malavika Hebbar, Chelna Galada, Rajagopal Kadavigrere, Fengyun Su, Xuhong Cao, Arul M Chinnaiyan, Katta M Girisha, Anju Shukla, Stephanie L Bielas
Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. European journal of human genetics : EJHG 26 (11) (2018)

Stephanie L Bielas.css-eqlu8i{font-size:small;padding-left:4px;} (Stephanie Bielas, S L Bielas)

Publication Activity (10 Years)

Top Topics

Top Venues

Stephanie L Bielas (Stephanie Bielas, S L Bielas)