Publications by authors named "Concetta Bormans"

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Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes.
Anne-Mai Ilumäe, Helen Post, Rodrigo Flores, Monika Karmin, Hovhannes Sahakyan, Concetta Bormans

Eur J Hum Genet· October 2021

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Hereditary alpha-tryptasemia in 101 patients with mast cell activation-related symptomatology including anaphylaxis.
Matthew P Giannetti, Emily Weller, Concetta Bormans, Peter Novak, Matthew J Hamilton

Ann Allergy Asthma Immunol· June 2021

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Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Hila Fridman, Concetta Bormans, Moshe Einhorn, Daniel Au, Arjan Bormans

Mol Genet Genomics· May 2021

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The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome.
Doron M Behar, Lauri Saag, Monika Karmin, Meir G Gover, Jeffrey D Wexler, Concetta Bormans

Sci Rep· November 2017

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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, Concetta Bormans

Mol Genet Genomic Med· May 2017

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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.
Eyal Reinstein, Ana Gutierrez-Fernandez, Shay Tzur, Concetta Bormans, Shai Marcu

Eur J Hum Genet· December 2016

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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.
Eyal Reinstein, Shay Tzur, Rony Cohen, Concetta Bormans, Doron M Behar

Eur J Hum Genet· November 2016

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Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.
Lior Cohen, Shay Tzur, Nitza Goldenberg-Cohen, Concetta Bormans, Doron M Behar

Genet Res (Camb)· June 2016

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Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.
Eyal Reinstein, Shay Tzur, Concetta Bormans, Doron M Behar

Genet Res (Camb)· May 2016

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Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
Eyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, Hadas Stiebel-Kalish, Shay Tzur, Concetta Bormans

Hum Mutat· April 2015

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Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.
Doron M Behar, Lina Basel-Vanagaite, Fabian Glaser, Marielle Kaplan, Shay Tzur, Concetta Bormans

J Lipid Res· February 2014

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Genome-wide linkage and positional candidate gene study of blood pressure response to dietary potassium intervention: the genetic epidemiology network of salt sensitivity study.
Tanika N Kelly, James E Hixson, Dabeeru C Rao, Hao Mei, Treva K Rice, Concetta Bormans

Circ Cardiovasc Genet· December 2010

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A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
Doron M Behar, Jason Blue-Smith, David F Soria-Hernanz, Shay Tzur, Yarin Hadid, Concetta Bormans

Hum Mutat· December 2008

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