World's Best Scientists 2026 revealed!

D-Index & Metrics

Biology and Biochemistry

D-Index
64
Citations
14727
World Ranking
9664
National Ranking
4264

Overview

Forbes D. Porter is affiliated with the National Institutes of Health in the United States and has contributed extensively to research in medicine and biochemistry, genetics, and molecular biology. Their work primarily focuses on lysosomal storage disorders, genetics, and various subfields including physiology, molecular biology, epidemiology, and hematology.

The scientist's recent publications cover diverse topics in medical and biological research. Some of the notable papers include:

  • CLN3 is required for the clearance of glycerophosphodiesters from lysosomes, published in 2022 in Nature
  • Prevalence of Diabetes and Hypertension and Their Associated Risks for Poor Outcomes in Covid-19 Patients, published in 2020 in the Journal of the Endocrine Society
  • Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders, published in 2020 in the American Journal on Intellectual and Developmental Disabilities
  • Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation, published in 2020 in Bone Research
  • Endocrine Conditions and COVID-19, published in 2020 in Hormone and Metabolic Research

They have collaborated frequently with several co-authors, including:

  • An Dang
  • Christopher A. Wassif
  • Simona Bianconi
  • Nicole Y. Farhat
  • Audrey Thurm

Forbes D. Porter's work appears regularly in several publication venues, notably:

  • Molecular Genetics and Metabolism
  • American Journal of Medical Genetics Part A
  • International Journal of Molecular Sciences
  • Genetics in Medicine
  • Journal of Inherited Metabolic Disease

The scientist's main areas of study encompass:

  • Medicine
  • Biochemistry, Genetics and Molecular Biology

Within these broader fields, their focus stretches across several subfields:

  • Physiology
  • Molecular Biology
  • Epidemiology
  • Hematology
  • Genetics

Their research topics include, but are not limited to:

  • Lysosomal Storage Disorders Research
  • Cytomegalovirus and herpesvirus research
  • Carbohydrate Chemistry and Synthesis
  • Autoimmune and Inflammatory Disorders Research
  • Child Nutrition and Feeding Issues
  • Calcium signaling and nucleotide metabolism
  • Glycogen Storage Diseases and Myoclonus

Best Publications

  • Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development.

    Forbes D. Porter;John Drago;Yang Xu;Surindar S. Cheema

  • The LIM homeobox gene Lhx9 is essential for mouse gonad formation.

    Ohad S. Birk;Delane E. Casiano;Christopher A. Wassif;Tiziana Cogliati

  • A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

    Michael K. Cooper;Christopher A. Wassif;Patrycja A. Krakowiak;Jussi Taipale

  • Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice.

    James R. Gnarra;Jerrold M. Ward;Forbes D. Porter;Joseph R. Wagner

  • Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

    Forbes D. Porter;David E. Scherrer;Michael H. Lanier;S. Joshua Langmade

  • Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

    Daniel S Ory;Elizabeth A Ottinger;Nicole Yanjanin Farhat;Kelly A King

  • A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

    Xuntian Jiang;Rohini Sidhu;Forbes D. Porter;Nicole M. Yanjanin

  • Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

    Elaine Tierney;Ngozi A. Nwokoro;Forbes D. Porter;Lisa S. Freund;Lisa S. Freund

  • Substrate reduction therapy

    Frances Mary Platt;Emyr Lloyd-Evans;Forbes Dennison Porter

  • LIM-homeodomain gene Lhx2 regulates the formation of the cortical hem.

    S. Bulchand;E.A. Grove;F.D. Porter;S. Tole

  • Use of the Cre/lox Recombination System to Develop a Non-lethal Knock-in Murine Model for Osteogenesis Imperfecta with an α1(I) G349C Substitution: VARIABILITY IN PHENOTYPE IN BrtlIV MICE

    Antonella Forlino;Forbes D. Porter;Eric J. Lee;Heiner Westphal

  • High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

    Christopher A. Wassif;Joanna L. Cross;Joanna L. Cross;James Iben;Luis Sanchez-Pulido

  • Linear Clinical Progression, Independent of Age of Onset, in Niemann-Pick Disease, type C

    Nicole M. Yanjanin;Jorge I. Vélez;Andrea Gropman;Kelly King;Kelly King

  • Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome

    Christopher A. Wassif;Pinjun Zhu;Lisa Kratz;Patrycja A. Krakowiak

  • Human malformation syndromes due to inborn errors of cholesterol synthesis.

    Forbes D Porter

  • Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

    Patrycja A. Krakowiak;Christopher A. Wassif;Lisa Kratz;Diana Cozma

  • Intracellular sphingosine releases calcium from lysosomes

    Doris Höglinger;Per Haberkant;Auxiliadora Aguilera-Romero;Howard Riezman

  • δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders

    Miao Xu;Miao Xu;Ke Liu;Manju Swaroop;Forbes D. Porter

  • Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

    Elizabeth A. Ottinger;Mark L. Kao;Nuria Carrillo-Carrasco;Nicole Yanjanin

  • A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

    Anne-Katrin Giese;Hermann Mascher;Ulrike Grittner;Sabrina Eichler

Frequent Co-Authors

Frances M. Platt
Frances M. Platt University of Oxford
Daniel S. Ory
Daniel S. Ory Washington University in St. Louis
William J. Pavan
William J. Pavan National Institutes of Health
Jean E. Schaffer
Jean E. Schaffer Harvard University
Audrey Thurm
Audrey Thurm National Institutes of Health
Elizabeth Berry-Kravis
Elizabeth Berry-Kravis Rush University Medical Center
Heiner Westphal
Heiner Westphal National Institutes of Health
Alfred L. Yergey
Alfred L. Yergey National Institutes of Health
Steven U. Walkley
Steven U. Walkley Albert Einstein College of Medicine
Constantine A. Stratakis
Constantine A. Stratakis Foundation for Research and Technology Hellas

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