Works by Jamuar, Saumya S.

Results: 8

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Published in:

Human Mutation, 2018, v. 39, n. 1, p. 23, doi. 10.1002/humu.23361

By:

Marsh, Ashley P. L.;
Edwards, Timothy J.;
Galea, Charles;
Cooper, Helen M.;
Engle, Elizabeth C.;
Jamuar, Saumya S.;
Méneret, Aurélie;
Moutard, Marie‐Laure;
Nava, Caroline;
Rastetter, Agnès;
Robinson, Gail;
Rouleau, Guy;
Roze, Emmanuel;
Spencer‐Smith, Megan;
Trouillard, Oriane;
Billette de Villemeur, Thierry;
Walsh, Christopher A.;
Yu, Timothy W.;
IRC5 Consortium;
Heron, Delphine

Publication type:

Article

Cover Image, Volume 39, Issue 1.

Published in:

Human Mutation, 2018, v. 39, n. 1, p. i, doi. 10.1002/humu.23372

By:

Marsh, Ashley P. L.;
Edwards, Timothy J.;
Galea, Charles;
Cooper, Helen M.;
Engle, Elizabeth C.;
Jamuar, Saumya S.;
Méneret, Aurélie;
Moutard, Marie‐Laure;
Nava, Caroline;
Rastetter, Agnès;
Robinson, Gail;
Rouleau, Guy;
Roze, Emmanuel;
Spencer‐Smith, Megan;
Trouillard, Oriane;
Billette de Villemeur, Thierry;
Walsh, Christopher A.;
Yu, Timothy W.;
IRC5 Consortium;
Heron, Delphine

Publication type:

Article

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Published in:

Ophthalmic Genetics, 2025, v. 46, n. 3, p. 225, doi. 10.1080/13816810.2025.2473961

By:

Sao Su, Sandy;
Chan, Choi Mun;
Bylstra, Yasmin;
Tan, Tien-En;
Kam, Sylvia;
Tang, Rachael W. C.;
Jain, Kanika;
Mathur, Ranjana S.;
Lott, Penny P. W.;
Farooqui, Saadia Z.;
Jamuar, Saumya S.;
Lim, Weng Khong;
Fenner, Beau J.

Publication type:

Article

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.

Published in:

2021

By:

Huang, Zhiqin;
Zhang, Dan;
Thompson, Jennifer A.;
Jamuar, Saumya S.;
Roshandel, Danial;
Jennings, Luke;
Mellough, Carla;
Charng, Jason;
Chen, Shang-Chih;
McLaren, Terri L.;
Lamey, Tina M.;
Chelva, Enid;
De Roach, John N.;
Chan, Choi Mun;
McLenachan, Samuel;
Chen, Fred K.

Publication type:

Report

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1400, doi. 10.1002/ajmg.a.36848

By:

Jamuar, Saumya S.;
Duzkale, Hatice;
Duzkale, Neslihan;
Zhang, Chengsheng;
High, Frances A.;
Kaban, Leonard;
Bhattacharya, Soma;
Crandall, Barbara;
Kantarci, Sibel;
Stoler, Joan M.;
Lin, Angela E.

Publication type:

Article

Clinical application of targeted long read sequencing in prenatal beta‐thalassemia testing and genetic counseling.

Published in:

2024

By:

Chin, Hui‐Lin;
Benton, Miles C.;
Yang, Lin;
Poon, Kok Siong;
Tan, Karen M. L.;
Jamuar, Saumya S.;
Foo, Roger;
Law, Hai Yang;
Goh, Denise Li‐Meng;
Chong, Samuel S.;
de Sessions, Paola Florez

Publication type:

Case Study

Dominant-negative NFKBIA mutation promotes IL-1β production causing hepatic disease with severe immunodeficiency.

Published in:

2020

By:

Tan, Enrica E. K.;
Hopkins, Richard A.;
Lim, Chrissie K.;
Jamuar, Saumya S.;
Ong, Christina;
Thoon, Koh C.;
Koh, Mark J. A.;
Shin, Eun Mong;
Lian, Derrick W. Q.;
Weerasooriya, Madhushanee;
Lee, Christopher Z. W.;
Pumomo Soetedjo, Andreas Alvin;
Chang Siang Lim;
Au, Veonice B.;
Chua, Edmond;
Hui Yin Lee;
Jones, Leigh Ann;
James, Sharmy S.;
Kaliaperumal, Nivashini;
Kwok, Jeffery

Publication type:

journal article

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0055-x

By:

P. Lim, Eileen C.;
Brett, Maggie;
Lai, Angeline H. M.;
Siew-Peng Lee;
Ee-Shien Tan;
Jamuar, Saumya S.;
Ng, Ivy S. L.;
Ene-Choo Tan

Publication type:

Article