Profil bibliographique

Daniel R. Schecter

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2Publications signalées
1Citations signalées
2Affiliations récentes

Les institutions déclarées

Mount Sinai Medical CenterIcahn School of Medicine at Mount Sinai

Les domaines associés

Mitochondrial Function and PathologyGenetic Neurodegenerative DiseasesMetabolism and Genetic DisordersConnective tissue disorders researchdental development and anomalies

Les publications récentes

Accès ouvert 2026 article OpenAlex

Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease

Daniel R. Schecter, Rory J Tinker, Patrick O’Connell, Jiuhong Pang et autres

Introduction Pathogenic mitochondrial DNA (mtDNA) variants cause multisystem disease, yet their contribution to kidney disease remains incompletely characterized, partly due to exclusion of the mitochondrial genome from genetic studies. Methods We evaluated mtDNA variation in 27,747 participants from the Mount Sinai Million …

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0 citations Kidney International Reports
Accès ouvert 2026 article OpenAlex

Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2

Daniel R. Schecter, Danielle Zamalin, V. Peter Abdow, Brenton Francisco et autres

Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT-2) is a rare inherited bone marrow failure syndrome characterized by congenital or progressive thrombocytopenia, frequent radioulnar synostosis, and variable multisystem involvement. It is caused by heterozygous germline pathogenic variants in the MDS1 and EVI1 …

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1 citation American Journal of Medical Genetics Part A
Profil ORCIDNotice OpenAlex

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