High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809 …
K Rojnueangnit, J Xie, A Gomes, A Sharp… - Human …, 2015 - Wiley Online Library
ABSTRACT Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders,
affecting 1: 3,000 worldwide. Identification of genotype–phenotype correlations is …
affecting 1: 3,000 worldwide. Identification of genotype–phenotype correlations is …
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA: DNA synthesis
Aberrant nucleic acids generated during viral replication are the main trigger for antiviral
immunity, and mutations that disrupt nucleic acid metabolism can lead to autoinflammatory …
immunity, and mutations that disrupt nucleic acid metabolism can lead to autoinflammatory …
Long COVID-19 liver manifestation in children
S Cooper, A Tobar, O Konen, N Orenstein… - Journal of pediatric …, 2022 - journals.lww.com
Objectives: Severe acute respiratory syndrome coronavirus 2, the novel coronavirus
responsible for coronavirus disease (COVID-19), has been a major cause of morbidity and …
responsible for coronavirus disease (COVID-19), has been a major cause of morbidity and …
[HTML][HTML] Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
L Basel-Salmon, N Orenstein, K Markus-Bustani… - Genetics in …, 2019 - Elsevier
Purpose Reanalysis of exome sequencing data when results are negative may yield
additional diagnoses. We sought to estimate the contribution of clinical geneticists to the …
additional diagnoses. We sought to estimate the contribution of clinical geneticists to the …
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously
implicated in acute myeloid leukaemia and development of the palate. Large deletions …
implicated in acute myeloid leukaemia and development of the palate. Large deletions …
[HTML][HTML] The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
L Lenaerts, S Reynhout, I Verbinnen… - Genetics in …, 2021 - nature.com
Purpose Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A)
dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA …
dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA …
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
MJ Nabais Sá, PJ Jensik, SR McGee, MJ Parker… - Genetics in …, 2019 - nature.com
Purpose To investigate the effect of different DEAF1 variants on the phenotype of patients
with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro …
with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro …
Impact of a national population-based carrier-screening program on spinal muscular atrophy births
S Aharoni, Y Nevo, N Orenstein, L Basel-Salmon… - Neuromuscular …, 2020 - Elsevier
Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease. Population carrier
screening for SMA was introduced in Israel in 2008 through health-care services' insurance …
screening for SMA was introduced in Israel in 2008 through health-care services' insurance …
Congenital myasthenic syndrome in Israel: genetic and clinical characterization
S Aharoni, M Sadeh, Y Shapira, S Edvardson… - Neuromuscular …, 2017 - Elsevier
The objective of the study was to evaluate the epidemiology of patients with congenital
myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on …
myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on …
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder
N Orenstein, H Goldberg-Stern, R Straussberg… - European journal of …, 2018 - Elsevier
Background Early-onset epileptic encephalopathy (EOEE) is a severe convulsive disorder
with a poor developmental prognosis. Although it has been associated with mutations in a …
with a poor developmental prognosis. Although it has been associated with mutations in a …