Works by Sveden, Abigail

Results: 7

Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry.

Published in:

Clinical Genetics, 2025, v. 108, n. 3, p. 279, doi. 10.1111/cge.14746

By:

Callahan, Nora C.;
Mahida, Sonal;
Sveden, Abigail;
Quinn, Meg;
Chopra, Maya;
Srivastava, Siddharth;
Wasserstein, M.;
Chopra, M.;
Sahin, M.;
Wangler, M.;
Schultz, B.;
Izumi, K.;
Gropman, A.;
Smith‐Hicks, C.;
Abbeduto, L.;
Hazlett, H.;
German, K.;
DaWalt, L.;
Neul, J.;
Constantino, J.

Publication type:

Article

Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 2, p. 251, doi. 10.1002/acn3.51942

By:

Santana Almansa, Alexandra;
Gable, Dustin L.;
Frazier, Zoë;
Sveden, Abigail;
Quinlan, Aisling;
Chopra, Maya;
Lewis, Sara A.;
Kruer, Michael;
Poduri, Annapurna;
Srivastava, Siddharth

Publication type:

Article

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder.

Published in:

Genes, 2024, v. 15, n. 4, p. 423, doi. 10.3390/genes15040423

By:

Cordova, Ineke;
Blesson, Alyssa;
Savatt, Juliann M.;
Sveden, Abigail;
Mahida, Sonal;
Hazlett, Heather;
Rooney Riggs, Erin;
Chopra, Maya

Publication type:

Article

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23556-4

By:

Goodrich, Julia K.;
Singer-Berk, Moriel;
Son, Rachel;
Sveden, Abigail;
Wood, Jordan;
England, Eleina;
Cole, Joanne B.;
Weisburd, Ben;
Watts, Nick;
Caulkins, Lizz;
Dornbos, Peter;
Koesterer, Ryan;
Zappala, Zachary;
Zhang, Haichen;
Maloney, Kristin A.;
Dahl, Andy;
Aguilar-Salinas, Carlos A.;
Atzmon, Gil;
Barajas-Olmos, Francisco;
Barzilai, Nir

Publication type:

Article

The Brain Gene Registry: a data snapshot.

Published in:

Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09530-3

By:

Baldridge, Dustin;
Kaster, Levi;
Sancimino, Catherine;
Srivastava, Siddharth;
Molholm, Sophie;
Gupta, Aditi;
Oh, Inez;
Lanzotti, Virginia;
Grewal, Daleep;
Riggs, Erin Rooney;
Savatt, Juliann M.;
Hauck, Rachel;
Sveden, Abigail;
Wasserstein, Melissa;
Sahin, Mustafa;
Wangler, Michael F.;
Schultz, Robert;
Gropman, Andrea;
Smith-Hicks, Constance;
Abbeduto, Len

Publication type:

Article

Introduction of the genetic counseling profession by teachers in BIPOC‐majority high schools.

Published in:

Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 411, doi. 10.1002/jgc4.1650

By:

Sveden, Abigail;
Schwartz, Alison;
Breen, Katelyn;
Gochyyev, Perman;
Channaoui, Nadine

Publication type:

Article

Toward representative genomic research: the children's rare disease cohorts experience.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040231181406

By:

Frazier, Zoë J.;
Brown, Eurnestine;
Rockowitz, Shira;
Lee, Ted;
Zhang, Bo;
Sveden, Abigail;
Chamberlin, Nancy L.;
Dies, Kira A.;
Poduri, Annapurna;
Sliz, Piotr;
Chopra, Maya

Publication type:

Article