Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations

in Human and Medical Genomics

• M. Tooming
• P. Mertsina
• T. Kahre
• R. Teek
• I. Vainumäe
• S. Lilles
• M. H. Wojcik
• P. Ilves
• K. Õunap

Comprehensive analysis of ferroptosis-related genes reveals potential therapeutic targets in osteoporosis patients: a computational analysis and in vitro experiments

in Human and Medical Genomics

• Sihui Chen
• Yi Jiang
• Guoqin Xie
• Peng Wu
• Jinyu Zhu

A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region

in Human and Medical Genomics

• Yuhong Zhao
• Weiwei Zhi
• Dongsheng Xiong
• Ningjing Li
• Xinrong Du
• Jiuzhi Zeng
• Guohui Zhang
• Weixin Liu

Urinary TYROBP and HCK as Genetic Biomarkers for Non-Invasive Diagnosis and Therapeutic Targeting in IgA Nephropathy

in Human and Medical Genomics

Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

in Human and Medical Genomics

• Davide Vecchio
• Marina Macchiaiolo
• Michaela V. Gonfiantini
• Filippo M. Panfili
• Francesco Petrizzelli
• Niccolò Liorni
• Fabiana Cortellessa
• Lorenzo Sinibaldi
• Ippolita Rana
• Emanuele Agolini

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

in Human and Medical Genomics

• Amina Kurtovic-Kozaric
• Lejla Delalic
• Belma Mutapcic
• Lejla Comor
• Eric Siciliano
• Mark J. Kiel

Editorial: CRISPR: the game changer in gene and cell therapy

in Human and Medical Genomics

• Wenxia He
• Meizhu Bai

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family

in Human and Medical Genomics

• Chuican Huang
• Zhenning Huang
• Ping Wang
• Xijing Wu
• Qiaomiao Zhou
• Jun Ding
• Qing Luo
• Weijia Wu
• Xialin Fan
• Lichun Fan

Consumer-oriented (patient and family) outcomes from nursing in genomics: a scoping review of the literature (2012–2022)

in Human and Medical Genomics

• Jordan N. Keels
• Joanne Thomas
• Kathleen A. Calzone
• Laurie Badzek
• Sarah Dewell
• Vinaya Murthy
• Rosie O’Shea
• Emma T. Tonkin
• Andrew A. Dwyer

Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine

in Human and Medical Genomics

• Hacer Durmus

Comparative study of the three-dimensional genomes of granulosa cells in germinal vesicle and metaphase II follicles

in Human and Medical Genomics

• Rurong Mao
• Zhongkun Cai
• Tao Wang
• Yan Li
• Shilin Tian
• Diyan Li
• Penghao Li

Editorial: Biomarkers and mechanisms of gastrointestinal diseases

in Human and Medical Genomics

• Zerrin Isik
• Gizem Calibasi-Kocal
• Omer Yilmaz