Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
Phenotypic expansion illuminates multilocus pathogenic variation
Purpose Multilocus variation—pathogenic variants in two or more disease genes—can
potentially explain the underlying genetic basis for apparent phenotypic expansion in cases …
potentially explain the underlying genetic basis for apparent phenotypic expansion in cases …
Clinical genomics and contextualizing genome variation in the diagnostic laboratory
Introduction The human genome contains the instructions for the development and
biological homeostasis of the human organism and the genetic transmission of traits …
biological homeostasis of the human organism and the genetic transmission of traits …
[HTML][HTML] Efficiency of computer-aided facial phenotyping (DeepGestalt) in individuals with and without a genetic syndrome: diagnostic accuracy study
JT Pantel, N Hajjir, M Danyel, J Elsner… - Journal of medical …, 2020 - jmir.org
Background Collectively, an estimated 5% of the population have a genetic disease. Many
of them feature characteristics that can be detected by facial phenotyping. Face2Gene …
of them feature characteristics that can be detected by facial phenotyping. Face2Gene …
Gibbin mesodermal regulation patterns epithelial development
A Collier, A Liu, J Torkelson, J Pattison, S Gaddam… - Nature, 2022 - nature.com
Proper ectodermal patterning during human development requires previously identified
transcription factors such as GATA3 and p63, as well as positional signalling from regional …
transcription factors such as GATA3 and p63, as well as positional signalling from regional …
Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism
Abstract Xia‐Gibbs syndrome (XGS; MIM# 615829) is a rare mendelian disorder
characterized by Development Delay (DD), intellectual disability (ID), and hypotonia …
characterized by Development Delay (DD), intellectual disability (ID), and hypotonia …
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome
Xia–Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop‐
gain or frameshift mutations in the AT‐hook DNA binding motif containing 1 (AHDC1) gene …
gain or frameshift mutations in the AT‐hook DNA binding motif containing 1 (AHDC1) gene …
[HTML][HTML] Xia-Gibbs syndrome: a rare case report of a male child and insight into physiotherapy management
Xia-Gibbs syndrome (XGS) is a recently discovered genetic disorder. It is characterized by
global developmental delay, intellectual impairment, hypotonia, and sleep abnormalities …
global developmental delay, intellectual impairment, hypotonia, and sleep abnormalities …
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
A Ben-Mahmoud, KR Jun, V Gupta, P Shastri… - Frontiers in Molecular …, 2022 - frontiersin.org
Genome-wide chromosomal microarray is extensively used to detect copy number variations
(CNVs), which can diagnose microdeletion and microduplication syndromes. These small …
(CNVs), which can diagnose microdeletion and microduplication syndromes. These small …
Variable clinical manifestations of Xia‐Gibbs syndrome: Findings of consecutively identified cases at a single Children's hospital
AL Ritter, C McDougall, C Skraban… - American Journal of …, 2018 - Wiley Online Library
Xia‐Gibbs syndrome (XGS) is a recently described neurodevelopmental disorder due to
heterozygous loss‐of‐function AHDC1 mutations. XGS is characterized by global …
heterozygous loss‐of‐function AHDC1 mutations. XGS is characterized by global …