Results 131 to 140 of about 16,136 (213)

Total number of variants, type and zygosity of variants in each genotype.

, 2016
Total number of variants, type and zygosity of variants in each genotype.
Yanshuai Xu (2141218), Jianmin Tao (1738249), Weihua Jiang (360805), Qiunan Wang (2141212), Shijie Zhang (119400), Shenchun Qu (2141215), Zhihong Gao (127975)   +6 more
core   +1 more source

Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
In a Han Chinese hearing‐loss cohort from Southwest China, a tiered strategy combining targeted hotspot screening and whole‐exome sequencing established molecular diagnoses in 25 patients, including one involving a CDH23 truncating variant not previously reported in Han Chinese patients with hearing loss, and identified a candidate SLC12A2 variant ...
Yu Zhang, Shimei Yuan, Yafang Wan, Tian Li, Lanlan Xu, Wei Yang, Changchun Niu   +6 more
wiley   +1 more source

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Patracia Nevondwe, Maria Mudau, Heather Seymour, Robyn Kerr, Zané Lombard, Amanda Krause, Nadia Carstens   +6 more
wiley   +1 more source

Monoallelic SH2B1 Variants in Neurodevelopmental Disorders: Phenotypic Expansion and Functional Characterization of Rare Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study delineates the clinical spectrum associated with rare monoallelic SH2B1 variants in individuals with NDDs. Functional analyses suggest variant‐specific effects on protein expression, subcellular localization, and ERK signaling responses.
Xin Xu, Gege Yuan, Bixia Zheng, Chunli Wang, Wei Zhou, Songming Huang, Senjie Du, Yikang He   +7 more
wiley   +1 more source

Whole‐Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Whole‐exome sequencing identified compound heterozygous CPAMD8 variants supporting a congenital cataract phenotype in one family and candidate CPAMD8 variants in a second family with pathologic myopia, highlighting the need for segregation and functional validation.
Qiu‐ling Xie, Qiao Wang, Yanan Liu, Teng Huang, Jin Li   +4 more
wiley   +1 more source

Long‐Term Prognosis and Immunotranscriptomic Landscape in Esophageal Squamous Cell Carcinoma With Different Pathological Responses to Neoadjuvant Chemoradiotherapy: A Retrospective Cohort Study

MedComm – Oncology, Volume 5, Issue 3, September 2026.
This study comprehensively characterizes the long‐term prognosis and immunotranscriptomic landscape associated with different tumor regression grades (TRGs) in esophageal squamous cell carcinoma (ESCC) following neoadjuvant chemoradiotherapy. By integrating bulk RNA‐seq, single‐cell transcriptomics, and multiplexed immunohistochemistry, we demonstrate ...
Jianye Yuan, Zelin Weng, Xinke Zhang, Fangqi Deng, Zihui Tan, Jian Zhong, Rui Chen, Xiuying Xie, Xiaodan Lin, Ting Lin, Yan Huang, Qianwen Liu, Jing Wen, Jianhua Fu   +13 more
wiley   +1 more source

Zygosity-Aware DNA Language Modeling Improves Ancestry and Gene Expression Prediction

DNA language models (DNA-LMs) are transforming how genomic sequence information is represented and interpreted. Yet most current approaches treat DNA as a single sequence, overlooking the diploid structure and zygosity information that distinguish the ...
Saadat, Ali, Fellay, Jacques, Rashidy, Hussin El   +2 more
core   +1 more source

RHD gene zygosity determination in the Tunisian population : impact of polymorphisms gene zygosity determination in the Tunisian population

, 2013
La prédiction de la zygotie à partir du génotype le plus probable en la comparant à la PCR-SSP, n’était pas fiable liée à la possibilité d’avoir d’autres génotypes possibles pour le même phénotype.
Kacem, Narjess
core  

Prenatal Genomics for Sonographers: Enhancing Confidence, Communication, and Clinical Care

Sonography, Volume 13, Issue 3, September 2026.
To access CPD test for this article click here: https://www.sonographers.org/account/login?returnUrl=/cpds/Prenatal_genomics_for_sonographers. ABSTRACT Genomic medicine is advancing rapidly, bringing significant changes to prenatal care and expanding the role of health professionals.
Deborah Wye, Laura Gerhardy, Noha Elserafy   +2 more
wiley   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, Volume 110, Issue 3, Page 379-388, September 2026.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Tahsin Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source