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Genetics

D-Index
63
Citations
13120
World Ranking
2902
National Ranking
1269

Overview

Marjan Huizing is affiliated with the National Institutes of Health in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a focus on Molecular Biology, Physiology, Cell Biology, Genetics, and Rheumatology as key subfields.

The scientist's work covers several main research topics, including:

  • Glycosylation and Glycoproteins Research
  • Lysosomal Storage Disorders Research
  • Cellular transport and secretion
  • Biochemical and Molecular Research
  • Glycogen Storage Diseases and Myoclonus
  • Inflammatory Myopathies and Dermatomyositis
  • Metabolism and Genetic Disorders

Marjan Huizing has contributed research to various publication venues, notably:

  • Molecular Genetics and Metabolism (8 publications)
  • Journal of the American Society of Nephrology (3 publications)
  • Genetics in Medicine (2 publications)
  • Human Mutation (1 publication)
  • Neuroscience Letters (1 publication)

Key recent papers authored by Marjan Huizing include:

  • "Hermansky-Pudlak syndrome: Mutation update" (2020), published in Human Mutation
  • "Free sialic acid storage disorder: Progress and promise" (2021), published in Neuroscience Letters
  • "Inherited disorders of lysosomal membrane transporters" (2020), published in Biochimica et Biophysica Acta (BBA) - Biomembranes

Other significant papers related to Huizing's research scope, authored by co-researchers, are:

  • "Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study" (2021), published in Genetics in Medicine
  • "Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature" (2023), published in Journal of Medical Genetics

Frequent co-authors who have collaborated extensively with Marjan Huizing include:

  • William A. Gahl (27 collaborations)
  • May Christine V. Malicdan (20 collaborations)
  • Marya S. Sabir (15 collaborations)
  • Petcharat Leoyklang (11 collaborations)
  • Mary E. Hackbarth (9 collaborations)

Best Publications

  • An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

    Ivona Aksentijevich;Seth L. Masters;Polly J. Ferguson;Paul Dancey

  • Natural History of Alkaptonuria

    Chanika Phornphutkul;Wendy J. Introne;Monique B. Perry;Isa Bernardini

  • Retro-orbital injections in mice.

    Tal Yardeni;Michael Eckhaus;H. Douglas Morris;Marjan Huizing

  • Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

    Marjan Huizing;Amanda Helip-Wooley;Wendy Westbroek;Meral Gunay-Aygun

  • Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico

    Yair Anikster;Marjan Huizing;James White;Yuriy O. Shevchenko

  • NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

    Meral Gunay-Aygun;Tzipora C Falik-Zaccai;Thierry Vilboux;Yifat Zivony-Elboum

  • Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

    Belinda Galeano;Riko Klootwijk;Irini Manoli;MaoSen Sun

  • Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.

    Sreenivasulu Chintala;Wei Li;M. Lynn Lamoreux;Shosuke Ito

  • The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

    Andrew R. Cullinane;Alejandro A. Schäffer;Marjan Huizing

  • Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

    Marjan Huizing;Charles D Scher;Erin Strovel;Diana L Fitzpatrick

  • AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.

    Marjan Huizing;Rangaprasad Sarangarajan;Erin Strovel;Yang Zhao

  • Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation

    Marjan Huizing;Yair Anikster;William A. Gahl

  • Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1

    Mark Brantly;Nilo A. Avila;Vorasuk Shotelersuk;Cynthia Lucero

  • Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics

    Paul D. Anderson;Marjan Huizing;David A. Claassen;James White

  • Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

    Meral Gunay–Aygun;Esperanza Font–Montgomery;Linda Lukose;Maya Tuchman Gerstein

  • Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

    Marjan Huizing;Vito Iacobazzi;Lodewijk IJlst;Paul Savelkoul

  • Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

    Marjan Huizing;Yair Anikster;William A. Gahl

  • Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

    Meral Gunay-Aygun;Yifat Zivony-Elboum;Fatma Gumruk;Dan Geiger

  • Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations

    Marjan Huizing;Goran Rakocevic;Susan E Sparks;Ioanna Mamali

  • Molecular defects that affect platelet dense granules.

    Meral Gunay-Aygun;Marjan Huizing;William A. Gahl

Frequent Co-Authors

William A. Gahl
William A. Gahl National Institutes of Health
James G. White
James G. White University of Minnesota
Raymond E. Boissy
Raymond E. Boissy University of Cincinnati
Jan A.M. Smeitink
Jan A.M. Smeitink Radboud University
Frans J.M. Trijbels
Frans J.M. Trijbels Radboud University
James C. Mullikin
James C. Mullikin National Institutes of Health
Ron A. Wevers
Ron A. Wevers Radboud University
Richard T. Swank
Richard T. Swank Roswell Park Cancer Institute
Marinos C. Dalakas
Marinos C. Dalakas Thomas Jefferson University
Lambert P. van den Heuvel
Lambert P. van den Heuvel Radboud University

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