Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.
Tackie E et al.
Research Square, 2025
A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC.
Marakhonov A et al.
International Journal of Molecular Sciences, 2024
Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.
Orlandi G et al.
Journal of Clinical Ultrasound : Jcu, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.
Biwei H et al.
Frontiers in Genetics, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
Thanikachalam S et al.
Genes, 2020
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY et al.
The Journal of Gene Medicine, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD et al.
European Journal of Human Genetics : Ejhg, 2019
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
Ectrodactyly-ectodermal dysplasia-clefting syndrome with unusual cutaneous vitiligoid and psoriasiform lesions due to a novel single point TP63 gene mutation.
Wawrzycki B et al.
Postepy Dermatologii I Alergologii, 2019
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Wenger T et al.
American Journal of Medical Genetics. Part A, 2018
LADD syndrome with glaucoma is caused by a novel gene.
Simpson A et al.
Molecular Vision, 2017
P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
de Mollerat XJ et al.
Journal of Medical Genetics, 2003
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H et al.
American Journal of Human Genetics, 2001