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Briganti, Francesca [Author]; Sun, Han [Author]; Wu, Wei [Author]; Wu, Jingyan [Author]; Zhu, Chenchen [Author]; Liss, Martin [Author]; Karakikes, Ioannis [Author]; Rego, Shannon [Author]; Cipriano, Andrea [Author]; Snyder, Michael [Author]; Meder, Benjamin [Author]; Xu, Zhenyu [Author]; Millat, Gilles [Author]; Gotthardt, Michael [Author]; Mercola, Mark [Author]; Steinmetz, Lars M. [Author]

iPSC modeling of RBM20-deficient DCM identifies upregulation of RBM20 as a therapeutic strategy

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https://www.sciencedirect.com/science/article/pii/S2211124720311062

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September 8, 2020

Published in: Cell reports ; 32(2020,10) Artikle-Nummer 108117, 14 Seiten
Rego, Shannon

Newborn screening in the genomics era

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Oxford University Press (OUP), 2014

Published in: Journal of Law and the Biosciences
Rego, Shannon M.; Snyder, Michael P.

High Throughput Sequencing and Assessing Disease Risk

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Cold Spring Harbor Laboratory, 2019

Published in: Cold Spring Harbor Perspectives in Medicine
Outram, Simon M.; Rego, Shannon; Norstad, Matthew; Ackerman, Sara

The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research

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Springer Science and Business Media LLC, 2024

Published in: Journal of Bioethical Inquiry
Rego, Stephen L.; Shannon, Brian; Zakhem, Elie; Bitar, Khalil N.

Su1859 Incorporation of Interstitial Cells of Cajal in Bioengineered Intrinsically Innervated Smooth Muscle Constructs

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Elsevier BV, 2015

Published in: Gastroenterology
Wynn, Julia; O'Rourke, Shannon Rego; Hoskovec, Jennifer; Perni, Sriram C.

Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”

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Wiley, 2024

Published in: Prenatal Diagnosis
Slavotinek, Anne; Prasad, Hannah; Yip, Tiffany; Rego, Shannon; Hoban, Hannah; Kvale, Mark

Predicting genes from phenotypes using human phenotype ontology (HPO) terms

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Springer Science and Business Media LLC, 2022

Published in: Human Genetics
Rego, Shannon; Grove, Megan E.; Cho, Mildred K.; Ormond, Kelly E.

Informed Consent in the Genomics Era

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Cold Spring Harbor Laboratory, 2020

Published in: Cold Spring Harbor Perspectives in Medicine
Rego, Shannon; Dagan‐Rosenfeld, Orit; Bivona, Stephanie A.; Snyder, Michael P.; Ormond, Kelly E.

Much ado about nothing: A qualitative study of the experiences of an average‐risk population receiving results of exome sequencing

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Wiley, 2019

Published in: Journal of Genetic Counseling
Adams, Denise; Pace, Nelson D.; Rego, Shannon; Wang, Steven; Ankrah, Nii; Turner, Stuart; Paul, Mary Lisha; Navid, Fariba

Understanding the path to diagnosis and clinical presentation of patients with PIK3CA-related overgrowth spectrum (PROS) through an innovative patient-centered data platform

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American Society of Clinical Oncology (ASCO), 2022

Published in: Journal of Clinical Oncology
Barrus, Kathleen; Rego, Shannon; Yip, Tiffany; Martin, Pierre‐Marie; Glen, Orit A.; Van Ziffle, Jessica; Slavotinek, Anne M.

The expanding spectrum of NFIB‐associated phenotypes in a diverse patient population—A report of two new patients

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Wiley, 2020

Published in: American Journal of Medical Genetics Part A
Darras, Natasha; Ha, Thoa K.; Rego, Shannon; Martin, Pierre‐Marie; Barroso, Eva; Slavotinek, Anne M.; Cilio, Maria R.

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B

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Wiley, 2019

Published in: American Journal of Medical Genetics Part A
Lal, Rayhan A.; Bachrach, Laura K.; Hoffman, Andrew R.; Inlora, Jingga; Rego, Shannon; Snyder, Michael P.; Lewis, David B.

A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation

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The Endocrine Society, 2017

Published in: The Journal of Clinical Endocrinology & Metabolism
Zhang, Monan Angela; Rego, Dorothy; Moshkova, Marina; Kebir, Hania; Chruscinski, Andrzej; Nguyen, HoangKim; Akkermann, Rainer; Stanczyk, Frank Z.; Prat, Alexandre; Steinman, Lawrence; Dunn, Shannon E.

Peroxisome proliferator-activated receptor (PPAR)α and -γ regulate IFNγand IL-17A production by human T cells in a sex-specific way

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National Academy of Sciences, 2012

Published in: Proceedings of the National Academy of Sciences of the United States of America
Zhang, Monan Angela; Rego, Dorothy; Moshkova, Marina; Kebir, Hania; Chruscinski, Andrzej; Nguyen, HoangKim; Akkermann, Rainer; Stanczyk, Frank Z.; Prat, Alexandre; Steinman, Lawrence; Dunn, Shannon E.

Peroxisome proliferator-activated receptor (PPAR)α and -γ regulate IFNγ and IL-17A production by human T cells in a sex-specific way

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Proceedings of the National Academy of Sciences, 2012

Published in: Proceedings of the National Academy of Sciences
Rego, Shannon; Hoban, Hannah; Outram, Simon; Zamora, Astrid N.; Chen, Flavia; Sahin-Hodoglugil, Nuriye; Anguiano, Beatriz; Norstad, Matthew; Yip, Tiffany; Lianoglou, Billie; Sparks, Teresa N.; Norton, Mary E.; Koenig, Barbara A.; Slavotinek, Anne M.; Ackerman, Sara L.

Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach

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Elsevier BV, 2022

Published in: Genetics in Medicine
Swanson, Kate; Sparks, Teresa N.; Lianoglou, Billie R.; Chen, Flavia; Downum, Sarah; Patel, Sachi; Rego, Shannon; Yip, Tiffany; Van Ziffle, Jessica; Koenig, Barbara A.; Slavotinek, Anne M.; Norton, Mary E.

Preference for secondary findings in prenatal and pediatric exome sequencing

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Wiley, 2022

Published in: Prenatal Diagnosis
Briganti, Francesca; Sun, Han; Wei, Wu; Wu, Jingyan; Zhu, Chenchen; Liss, Martin; Karakikes, Ioannis; Rego, Shannon; Cipriano, Andrea; Snyder, Michael; Meder, Benjamin; Xu, Zhenyu; Millat, Gilles; Gotthardt, Michael; Mercola, Mark; Steinmetz, Lars M.

iPSC Modeling of RBM20-Deficient DCM Identifies Upregulation of RBM20 as a Therapeutic Strategy

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Elsevier BV, 2020

Published in: Cell Reports
Mendelsohn, Bryce A.; Beleford, Daniah T.; Abu‐El‐Haija, Aya; Alsaleh, Norah S.; Rahbeeni, Zuhair; Martin, Pierre‐Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T.; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S.; Slavotinek, Anne M.

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy

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Wiley, 2020

Published in: American Journal of Medical Genetics Part A
Grove, Megan E.; White, Shana; Fisk, Dianna G.; Rego, Shannon; Dagan‐Rosenfeld, Orit; Kohler, Jennefer N.; Reuter, Chloe M.; Bonner, Devon; Wheeler, Matthew T.; Bernstein, Jonathan A.; Ormond, Kelly E.; Hanson‐Kahn, Andrea K.

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students

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Wiley, 2019

Published in: Journal of Genetic Counseling

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