Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.
Chen R et al.
Genome Biology, 2025
A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.
Valmiki S et al.
Journal of Lipid Research, 2025
Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging.
Bijon J et al.
Ophthalmic Genetics, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids.
Schneider CV et al.
Alimentary Pharmacology & Therapeutics, 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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.
Rodríguez Gutiérrez PG et al.
Journal of Clinical Laboratory Analysis, 2021
A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.
Wilson MH et al.
Plos Genetics, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
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
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Toward an integrated map of genetic interactions in cancer cells.
Rauscher B et al.
Molecular Systems Biology, 2018
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
Shi L et al.
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
Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.
Hooper AJ et al.
Circulation Research, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.
Najah M et al.
Diagnostic Pathology, 2013
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
Magnolo L et al.
Gene, 2013
Abetalipoproteinemia: two case reports and literature review.
Zamel R et al.
Orphanet Journal of Rare Diseases, 2008
Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.
Benayoun L et al.
Molecular Genetics and Metabolism, 2007
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
Wang J et al.
Human Mutation, 2000
Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
Di Filippo M et al.
Journal of Clinical Lipidology, 0
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
Vlasschaert C et al.
Journal of Investigative Medicine High Impact Case Reports, 0