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Genetics

D-Index
91
Citations
26745
World Ranking
1047
National Ranking
510

Medicine

D-Index
92
Citations
27392
World Ranking
11417
National Ranking
5851

Overview

John A. Phillips is affiliated with Vanderbilt University Medical Center in the United States. Their research spans multiple fields, with a primary focus on biochemistry, genetics, and molecular biology, complemented by significant work in medicine. The scientist's work encompasses a broad array of subfields, including genetics, molecular biology, pulmonary and respiratory medicine, physiology, and surgery.

The main topics addressed by Phillips' research cover several areas: genomics and rare diseases, genomic variations and chromosomal abnormalities, metabolism and genetic disorders, genetics and neurodevelopmental disorders, connective tissue disorders research, genetic factors in colorectal cancer, and venous thromboembolism diagnosis and management.

Phillips has contributed to numerous scientific publications, with frequent appearances in noteworthy venues such as the American Journal of Medical Genetics Part A, Genetics in Medicine Open, American Journal of Respiratory and Critical Care Medicine, The American Journal of Human Genetics, and bioRxiv (Cold Spring Harbor Laboratory).

  • International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia, 2021, Nature Reviews Endocrinology
  • Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study, 2021, Nature Metabolism
  • Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease, 2020, American Journal of Respiratory and Critical Care Medicine
  • Limitations of exome sequencing in detecting rare and undiagnosed diseases, 2020, American Journal of Medical Genetics Part A
  • Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network, 2021, The American Journal of Human Genetics

John A. Phillips collaborates frequently with several researchers, which marks a recurring aspect of their scientific activity. Coauthors with significant numbers of joint publications include:

  • Joy D. Cogan
  • Rizwan Hamid
  • Rory J. Tinker
  • Yutaka Furuta
  • Kimberly Ezell

Their body of work and expertise are closely connected to key topics such as genomics of rare diseases, genetic variations, metabolic and neurodevelopmental genetic conditions, and pulmonary medicine. Phillips' contributions span experimental and clinical research, emphasizing multidisciplinary approaches to complex genetic and medical challenges.

Best Publications

  • Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

    Kirk B. Lane;Rajiv D. Machado;Michael W. Pauciulo;Jennifer R. Thomson

  • Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis

    Mary Y. Armanios;Julian J.-L. Chen;Joy D. Cogan;Jonathan K. Alder

  • Short telomeres are a risk factor for idiopathic pulmonary fibrosis

    Jonathan K. Alder;Julian J.L. Chen;Lisa Lancaster;Sonye Danoff

  • Mutations in PROP1 cause familial combined pituitary hormone deficiency

    Wei Wu;Joy D. Cogan;Roland W. Pfäffle;Jeremy S. Dasen

  • BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

    Rajiv D Machado;Michael W. Pauciulo;Jennifer R. Thomson;Kirk B. Lane

  • Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred.

    John H. Newman;Lisa Wheeler;Kirk B. Lane;Emily Loyd

  • Clinical and pathologic features of familial interstitial pneumonia.

    Mark P. Steele;Marcy C. Speer;James E. Loyd;Kevin K. Brown

  • Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

    S. E. Antonarakis;J. P. Rossiter;M. Young;J. Horst

  • Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

    Eric D. Austin;Lijiang Ma;Charles LeDuc;Erika Berman Rosenzweig

  • siRNA therapeutics: big potential from small RNAs

    R C C Ryther;A S Flynt;J A Phillips;J G Patton

  • Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

    Hideki Nishimura;Elizabeth Yerkes;Katharina Hohenfellner;Yoichi Miyazaki

  • Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF

    W E Lawson;S W Grant;V Ambrosini;K E Womble

  • Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31–32

    William C. Nichols;Daniel L. Koller;Bonnie Slovis;Tatiana Foroud

  • Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension.

    J. E. Loyd;M. G. Butler;Tatiana Foroud;P. M. Conneally

  • Molecular basis for familial isolated growth hormone deficiency.

    John A. Phillips;Brian L. Hjelle;Peter H. Seeburg;Milo Zachmann

  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

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

  • Genetic basis of pulmonary arterial hypertension: current understanding and future directions.

    John H Newman;Richard C Trembath;Jane A Morse;Ekkehard Grunig

  • Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

    Jennifer J. Johnston;Isabelle Olivos-Glander;Christina Killoran;Emma Elson

  • Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

    Roberto Salvatori;César Y. Hayashida;Manuel H. Aguiar-Oliveira;John A. Phillips

  • Angiotensin converting enzyme gene polymorphism. Potential silencer motif and impact on progression in IgA nephropathy

    Tracy E. Hunley;Tracy E. Hunley;Tracy E. Hunley;Bruce A. Julian;Bruce A. Julian;Bruce A. Julian;John A. Phillips;John A. Phillips;John A. Phillips;Marshal L. Summar;Marshal L. Summar;Marshal L. Summar

Frequent Co-Authors

Joy D. Cogan
Joy D. Cogan Vanderbilt University Medical Center
James E. Loyd
James E. Loyd Vanderbilt University Medical Center
John H. Newman
John H. Newman Vanderbilt University Medical Center
Timothy S. Blackwell
Timothy S. Blackwell University of Michigan–Ann Arbor
William A. Gahl
William A. Gahl National Institutes of Health
Vandana Shashi
Vandana Shashi Duke University
Monte Westerfield
Monte Westerfield University of Oregon
David A. Sweetser
David A. Sweetser Harvard University
Daryl A. Scott
Daryl A. Scott Baylor College of Medicine
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine

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