Associated Papers
Advances in the treatment of familial dysautonomia: what does the future hold?
Grobocopatel Marra M et al.
Expert Review of Neurotherapeutics, 2025
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.
Tan IL et al.
Cell Reports, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Structural asymmetry in the eukaryotic Elongator complex.
Dauden MI et al.
Febs Letters, 2018
Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.
Gutiérrez JV et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2018
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.
Rubin BY et al.
The Application of Clinical Genetics, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Xu H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.
Feldman GL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Selective retinal ganglion cell loss in familial dysautonomia.
Mendoza-Santiesteban CE et al.
Journal of Neurology, 2014
Genetic and phenotypic variability of optic neuropathies.
Neuhann T et al.
Expert Review of Neurotherapeutics, 2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
High-throughput carrier screening using TaqMan allelic discrimination.
Fedick A et al.
Plos One, 2013
Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells.
Boone N et al.
Human Mutation, 2012
Modelling familial dysautonomia in human induced pluripotent stem cells.
Lee G et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Scott SA et al.
Human Mutation, 2010
The single cell as a tool for genetic testing: credibility, precision, implication.
Dotan K et al.
Journal of Assisted Reproduction and Genetics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
Chen YT et al.
Molecular and Cellular Biology, 2009
Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Fares F et al.
Prenatal Diagnosis, 2008
IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
Gold-von Simson G et al.
Pediatric Research, 2008
The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.
Rubin BY et al.
Neuromolecular Medicine, 2008
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Hims MM et al.
Genomics, 2007
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
Hims MM et al.
Journal of Molecular Medicine (berlin, Germany), 2007
Episodic somnolence in an infant with Riley-Day syndrome.
Casella EB et al.
Pediatric Neurology, 2005
Hereditary sensory neuropathies.
Houlden H et al.
Current Opinion in Neurology, 2004
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.
Slaugenhaupt SA et al.
Human Molecular Genetics, 2004
Carrier testing for autosomal-recessive disorders.
Vallance H et al.
Critical Reviews in Clinical Laboratory Sciences, 2003
Identification of the first non-Jewish mutation in familial Dysautonomia.
Leyne M et al.
American Journal of Medical Genetics. Part A, 2003
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
Cuajungco MP et al.
American Journal of Human Genetics, 2003
Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews.
Lehavi O et al.
Genetic Testing, 2003
Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.
Dong J et al.
American Journal of Medical Genetics, 2002
Familial dysautonomia.
Slaugenhaupt SA et al.
Current Opinion in Genetics & Development, 2002
Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.
Slaugenhaupt SA
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2002
Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
Cuajungco MP et al.
Dna and Cell Biology, 2001
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt SA et al.
American Journal of Human Genetics, 2001
Familial dysautonomia is caused by mutations of the IKAP gene.
Anderson SL et al.
American Journal of Human Genetics, 2001
Familial dysautonomia and the expansion of the Ashkenazi Jewish carrier screening panel.
Gilbert F
Genetic Testing, 2001
Familial Dysautonomia: Mechanisms and Models.
Dietrich P et al.
Genetics and Molecular Biology, 0