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David A. Sweetser

David A. Sweetser

D-Index & Metrics

Genetics

D-Index
46
Citations
7119
World Ranking
4178
National Ranking
1799

Overview

David A. Sweetser is affiliated with Harvard University in the United States. Their research primarily focuses on the fields of biochemistry, genetics, and molecular biology, with a particular emphasis on molecular biology, genetics, and cell biology. Additional subfields include physiology and cellular and molecular neuroscience.

The main topics of Sweetser's work encompass:

  • Genetics and neurodevelopmental disorders
  • RNA modifications and cancer
  • Mitochondrial function and pathology
  • Cellular transport and secretion
  • Genomics and rare diseases
  • Ubiquitin and proteasome pathways
  • Metabolism and genetic disorders

Sweetser has authored multiple recent research papers including:

  • "De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism" (2020) published in The American Journal of Human Genetics
  • "Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome" (2022) published in Annals of the Rheumatic Diseases
  • "De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment" (2020) published in Human Molecular Genetics
  • "Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science" (2020) published in Genetics in Medicine
  • "SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia" (2023) published in Brain

Frequent coauthors collaborating with Sweetser include:

  • Lauren C. Briere
  • Melissa Walker
  • Frances A. High
  • Michael F. Wangler
  • Hugo J. Bellen

The most common venues for their publications are:

  • The American Journal of Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Journal of Inherited Metabolic Disease
  • eLife

Best Publications

  • Prevalence and prognostic significance of Flt3 internal tandem duplication in pediatric acute myeloid leukemia

    Soheil Meshinchi;William G. Woods;Derek L. Stirewalt;David A. Sweetser

  • The human and rodent intestinal fatty acid binding protein genes. A comparative analysis of their structure, expression, and linkage relationships.

    D A Sweetser;E H Birkenmeier;I J Klisak;S Zollman

  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

    Kimberly Splinter;David R. Adams;Carlos A. Bacino;Hugo J. Bellen

  • Transgenic mice containing intestinal fatty acid-binding protein-human growth hormone fusion genes exhibit correct regional and cell-specific expression of the reporter gene in their small intestine

    David A. Sweetser;Sherrie M. Hauft;Peter C. Hoppe;Edward H. Birkenmeier

  • Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

    Mark B. Consugar;Daniel Navarro-Gomez;Emily M. Place;Kinga M. Bujakowska

  • Mechanisms underlying generation of gradients in gene expression within the intestine: an analysis using transgenic mice containing fatty acid binding protein-human growth hormone fusion genes.

    David A. Sweetser;Edward H. Birkenmeier;Peter C. Hoppe;Daniel W. McKeel

  • Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

    Daniela A. Braun;Jia Rao;Geraldine Mollet;Geraldine Mollet;David Schapiro

  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

    Julia Wang;Rami Al-Ouran;Yanhui Hu;Seon-Young Kim

  • Rat cellular retinol-binding protein II: use of a cloned cDNA to define its primary structure, tissue-specific expression, and developmental regulation.

    Ellen Li;Laurie A. Demmer;David A. Sweetser;David E. Ong

  • Discovering chemical modifiers of oncogene-regulated hematopoietic differentiation

    Jing-Ruey J Yeh;Kathleen M Munson;Kathleen M Munson;Kamaleldin E Elagib;Adam N Goldfarb

  • Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia.

    Soheil Meshinchi;Derek L. Stirewalt;Todd A. Alonzo;Quangeng Zhang

  • The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene.

    L A Demmer;E H Birkenmeier;D A Sweetser;M S Levin

  • The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

    Rachel B. Ramoni;Rachel B. Ramoni;John J. Mulvihill;David R. Adams;Patrick Allard

  • The nucleotide sequence of the rat liver fatty acid-binding protein gene. Evidence that exon 1 encodes an oligopeptide domain shared by a family of proteins which bind hydrophobic ligands.

    D A Sweetser;J B Lowe;J I Gordon

  • Human liver fatty acid binding protein. Isolation of a full length cDNA and comparative sequence analyses of orthologous and paralogous proteins.

    J B Lowe;M S Boguski;D A Sweetser;N A Elshourbagy

  • A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

    Hsiao-Tuan Chao;Hsiao-Tuan Chao;Mariska Davids;Elizabeth Burke;John G. Pappas

  • Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts

    Raj P. Kapur;David A. Sweetser;Barbara Doggett;Joseph R. Siebert

  • Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias

    Woo Jae Kim;Ross A. Okimoto;Louise E. Purton;Meagan Goodwin

  • IRF2BPL Is Associated with Neurological Phenotypes.

    Paul C. Marcogliese;Vandana Shashi;Rebecca C. Spillmann;Nicholas Stong

  • A protein antigen of Mycobacterium leprae is related to a family of small heat shock proteins.

    A. H. Nerland;Abu Salim Mustafa;D. Sweetser;T. Godal

Frequent Co-Authors

Michael F. Wangler
Michael F. Wangler Baylor College of Medicine
Joseph Loscalzo
Joseph Loscalzo Harvard Medical School
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Vandana Shashi
Vandana Shashi Duke University
Monte Westerfield
Monte Westerfield University of Oregon
John A. Phillips
John A. Phillips Vanderbilt University Medical Center
Isaac S. Kohane
Isaac S. Kohane Harvard University
William A. Gahl
William A. Gahl National Institutes of Health
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
John H. Postlethwait
John H. Postlethwait University of Oregon

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