GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence
can support physicians in recognizing these patterns by associating facial phenotypes with …
can support physicians in recognizing these patterns by associating facial phenotypes with …
[HTML][HTML] C2H2-Type Zinc Finger Proteins in Brain Development, Neurodevelopmental, and Other Neuropsychiatric Disorders: Systematic Literature-Based Analysis
N Al-Naama, R Mackeh, T Kino - Frontiers in Neurology, 2020 - frontiersin.org
Neurodevelopmental disorders (NDDs) are multifaceted pathologic conditions manifested
with intellectual disability, autistic features, psychiatric problems, motor dysfunction, and/or …
with intellectual disability, autistic features, psychiatric problems, motor dysfunction, and/or …
The functional and evolutionary impacts of human-specific deletions in conserved elements
Conserved genomic sequences disrupted in humans may underlie uniquely human
phenotypic traits. We identified and characterized 10,032 human-specific conserved …
phenotypic traits. We identified and characterized 10,032 human-specific conserved …
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders
SB Estruch, SA Graham, M Quevedo… - Human molecular …, 2018 - academic.oup.com
FOXP transcription factors play important roles in neurodevelopment, but little is known
about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate …
about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate …
[HTML][HTML] Transcription factor expression as a predictor of colon cancer prognosis: a machine learning practice
Background Colon cancer is one of the leading causes of cancer deaths in the USA and
around the world. Molecular level characters, such as gene expression levels and …
around the world. Molecular level characters, such as gene expression levels and …
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
MB Christensen, AM Levy, NA Mohammadi… - Clinical …, 2022 - Wiley Online Library
Biallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have
recently been associated with intellectual disability (ID), speech impairment, seizures, and …
recently been associated with intellectual disability (ID), speech impairment, seizures, and …
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype …
Background Pathogenic variants in the zinc finger protein coding genes are rare causes of
intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing …
intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing …
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been
identified using whole exome sequencing (WES) in two patients with epileptic …
identified using whole exome sequencing (WES) in two patients with epileptic …
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
A Dufke, M Hoopmann, S Waldmüller… - Prenatal …, 2022 - Wiley Online Library
Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple
structural defects with no pathogenic findings in cytogenetic and microarray analyses …
structural defects with no pathogenic findings in cytogenetic and microarray analyses …
Novel de novo ZNF148 truncating variant causing autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability
C Miao, L Du, Y Zhang, F Jia, L Shan - Clinical Genetics, 2023 - Wiley Online Library
ZNF148 gene is a Krüppel‐type transcription factor that has transcriptional regulatory
function. Heterozygous variant in ZNF148 gene causes an intellectual disability syndrome …
function. Heterozygous variant in ZNF148 gene causes an intellectual disability syndrome …