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D-Index & Metrics

Genetics

D-Index
73
Citations
23736
World Ranking
2022
National Ranking
924

Overview

Pragna Patel is affiliated with the Centers for Disease Control and Prevention in the United States. Their research primarily spans the fields of Medicine and Nursing, with subfields including Surgery, Nutrition and Dietetics, and Pulmonary and Respiratory Medicine.

Their published work includes studies focusing on congenital diaphragmatic hernia as well as infant nutrition and neonatal respiratory health. The main topics covered in their research are:

  • Congenital Diaphragmatic Hernia Studies
  • Infant Nutrition and Health
  • Neonatal Respiratory Health Research

One noted publication by Patel is:

  • Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice, 2020, Human Molecular Genetics

This publication addresses genetic factors underlying congenital diaphragmatic hernia and appears in the journal Human Molecular Genetics, which is also a frequent venue for their work.

Frequent collaborators in Patel's research include:

  • T. Beck
  • Danielle Veenma
  • Oleg A. Shchelochkov
  • Zhiyin Yu
  • Bum-Joon Kim

Their scientific contributions relate to understanding developmental and nutritional conditions affecting infants, with emphasis on genetic disorders and respiratory health. Patel's work integrates clinical and molecular approaches, aiming to elucidate mechanisms relevant to early life health challenges.

Best Publications

  • Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

    Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese

  • DNA duplication associated with Charcot-Marie-Tooth disease type 1A

    James R. Lupski;Roberto Montes de Oca-Luna;Susan Slaugenhaupt;Liu Pentao

  • Incidence of Types of Cancer among HIV-Infected Persons Compared with the General Population in the United States, 1992–2003

    Pragna Patel;Debra L. Hanson;Patrick S. Sullivan;Richard M. Novak

  • Estimating per-act HIV transmission risk: a systematic review.

    Pragna Patel;Craig B. Borkowf;John T. Brooks;Arielle Lasry

  • Mutation of PAX9 is associated with oligodontia

    David W. Stockton;Parimal Das;Monica Goldenberg;Rena N. D'Souza

  • Syphilis increases HIV viral load and decreases CD4 cell counts in HIV-infected patients with new syphilis infections.

    Kate Buchacz;Pragna Patel;Melanie Taylor;Peter R Kerndt

  • The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

    Patel Pi;Roa Bb;Welcher Aa;Welcher Aa;Schoener-Scott R

  • Case Series of Multisystem Inflammatory Syndrome in Adults Associated with SARS-CoV-2 Infection - United Kingdom and United States, March-August 2020.

    Sapna Bamrah Morris;Noah G. Schwartz;Pragna Patel;Lilian Abbo

  • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

    Liu Pentao;Carol A. Wise;A. Craig Chinault;Pragna I. Patel

  • The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.

    Sanjay I. Bidichandani;Tetsuo Ashizawa;Tetsuo Ashizawa;Pragna I. Patel

  • Recent trends in cutaneous melanoma incidence and death rates in the United States, 1992-2006.

    Ahmedin Jemal;Mona Saraiya;Pragna Patel;Sai S. Cherala

  • Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

    B. B. Roa;C. A. Garcia;U. Suter;D. A. Kulpa

  • Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

    F Greenberg;V Guzzetta;R Montes de Oca-Luna;R E Magenis

  • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

    Phillip F. Chance;Nacer Abbas;M.William Lensch;Liu Pentao

  • Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.

    James R. Lupski;Carol A. Wise;Akira Kuwano;Liu Pentao

  • Low Vitamin D among HIV-Infected Adults: Prevalence of and Risk Factors for Low Vitamin D Levels in a Cohort of HIV-Infected Adults and Comparison to Prevalence among Adults in the US General Population

    Christine N. Dao;Pragna Patel;E. Turner Overton;Frank Rhame

  • Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes

    P H Yen;P Patel;A C Chinault;T Mohandas

  • Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

    Carol A. Wise;Carlos A. Garcia;Stewart N. Davis;Zhang Heju

  • Racial and ethnic variations in incidence and survival of cutaneous melanoma in the United States, 1999-2006

    Xiao Cheng Wu;Melody J. Eide;Jessica King;Mona Saraiya

  • Fine structure of the human hypoxanthine phosphoribosyltransferase gene

    P I Patel;P E Framson;C T Caskey;A C Chinault

Frequent Co-Authors

John T. Brooks
John T. Brooks Centers for Disease Control and Prevention
James R. Lupski
James R. Lupski Baylor College of Medicine
Kate Buchacz
Kate Buchacz Centers for Disease Control and Prevention
Michael J. Silverberg
Michael J. Silverberg Kaiser Permanente
Richard D. Moore
Richard D. Moore Johns Hopkins University
Mari M. Kitahata
Mari M. Kitahata University of Washington
Amy C. Justice
Amy C. Justice Yale University
Stephen J. Gange
Stephen J. Gange Johns Hopkins University
Jennifer E. Thorne
Jennifer E. Thorne Johns Hopkins University
Antonio Baldini
Antonio Baldini University of Naples Federico II

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