Articles

Showing 4 articles

• Original Research

  Published 28 September 2026

  The mutational and clinical spectrum of EYS -associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles

  Marianna Weener · Igor Hatsenko · Inna Zolnikova · Natella Chincharauli · Maria Shilova · Anna Venger · Olga Luneva · Larisa Balashova · Jean Salmasi · Gennadiy Poryadin

  Frontiers in Genetics

  doi 10.3389/fgene.2026.1951476

• Original Research

  Published 28 September 2026

  Copy number variants in fetuses with non-structural ultrasound abnormalities among pregnant women without adverse pregnancy history

  Jianwen Lian · Liubing Lan · Wenjuan Luo · Lingna She · Bosen Zhang · Huaxian Wang · Hua Zhong · Zhiyuan Zheng · Heming Wu · Lifang Lin

  Frontiers in Genetics

  doi 10.3389/fgene.2026.1908680

• Original Research

  Published 4 August 2026

  A machine learning framework for predictive interpretation of variants of uncertain significance in hereditary cancer

  Nayeema Nizamuddin · Soham Biswas · Akshaykumar Zawar · Poonam Deshpande · Layal Yasin · Prashanth N. Suravajhala

  Frontiers in Systems Biology

  doi 10.3389/fsysb.2026.1828263

• Cancer Control and Society

  Published 12 September 2025

  Impact of germline panel size on hereditary cancer: findings of variants of uncertain significance in the Brazilian public health population selected for high hereditary cancer risk

  Christine Elisabete Rubio Alem · Bárbara Narciso Duarte · Ana Elisa Ribeiro da Silva Cabello · Sandra Regina Campos Teixeira · Thiago Gaspar · Márcio Lopes de Souza · Cesar Cabello

  Frontiers in Cancer Control and Society

  doi 10.3389/fcacs.2025.1549584