Associated Papers
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.
Radha Rama Devi A et al.
Journal of Pediatric Genetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Two novel missense mutations in nonketotic hyperglycinemia.
Yilmaz BS et al.
Journal of Child Neurology, 2015
Neonatal nonketotic hyperglycinemia.
Bhamkar RP et al.
Indian Journal of Pediatrics, 2007
Genomic organization of the murine aminomethyltransferase gene (Amt).
Backofen B et al.
Dna Sequence : the Journal of Dna Sequencing and Mapping, 2002
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
Toone JR et al.
Human Mutation, 2001
Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses.
Applegarth DA et al.
Prenatal Diagnosis, 2000
Genomic structures and sequences of two closely linked genes (AMT, TCTA) on dog chromosome 20q15.1-->q15.2.
Leeb T et al.
Cytogenetics and Cell Genetics, 2000
Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.
Kure S et al.
Prenatal Diagnosis, 1999
[Genetic diagnosis of hereditary diseases].
Narisawa K
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 1998
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.
Kure S et al.
Human Genetics, 1998