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Genetics

D-Index
77
Citations
43957
World Ranking
1733
National Ranking
795

Medicine

D-Index
79
Citations
46090
World Ranking
17339
National Ranking
8689

Research.com Recognitions

  • 2007 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

David Valle is affiliated with Johns Hopkins University School of Medicine in the United States. Their research is primarily situated within the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. The work focuses on various subfields including Molecular Biology, Genetics, Pulmonary and Respiratory Medicine, Surgery, and Infectious Diseases.

Valle's research topics cover a range of areas related to genomics and genetic disorders. Key themes include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Metabolism and Genetic Disorders, Bone Tumor Diagnosis and Treatments, Sarcoma Diagnosis and Treatment, and CRISPR and Genetic Engineering.

Frequent publication venues where their work appears include the American Journal of Medical Genetics Part A, HPB, Human Mutation, Genetics in Medicine Open, and bioRxiv (Cold Spring Harbor Laboratory).

Their recent papers include the following:

  • Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature, 2020, American Journal of Medical Genetics Part A
  • Centers for Mendelian Genomics: A decade of facilitating gene discovery, 2022, Genetics in Medicine
  • Variant-level matching for diagnosis and discovery: Challenges and opportunities, 2022, Human Mutation
  • The Deep Genome Project, 2020, Genome Biology
  • IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease, 2021, Human Genetics

Valle has collaborated frequently with several researchers, including Nara Sobreira, Ada Hamosh, Jennifer E. Posey, James R. Lupski, and Elizabeth Wohler.

In recognition of contributions to the scientific community, Valle was named a Fellow of the American Association for the Advancement of Science (AAAS) in 2007.

Best Publications

  • Finding the missing heritability of complex diseases

    Teri A. Manolio;Francis S. Collins;Nancy J. Cox;David B. Goldstein

  • The International HapMap Project

    John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu

  • The human disease network

    Kwang Il Goh;Michael E. Cusick;David Valle;Barton Childs

  • GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

    Nara Sobreira;François Schiettecatte;David Valle;Ada Hamosh

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • Online Mendelian Inheritance in Man (OMIM).

    Ada Hamosh;Alan F. Scott;Joanna Amberger;David Valle

  • The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    Jessica X. Chong;Kati J. Buckingham;Shalini N. Jhangiani;Corinne Boehm

  • MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA cluster.

    Shunbin Xu;P. Dane Witmer;Stephen Lumayag;Beatrix Kovacs

  • Implementing genomic medicine in the clinic: the future is here

    Teri A. Manolio;Rex L Chisholm;Brad Ozenberger;Dan M. Roden

  • Human disease genes

    Gerardo Jimenez-Sanchez;Barton Childs;David Valle

  • Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

    Gabriele Dodt;Nancy Braverman;Candice Wong;Ann Moser

  • Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.

    Nancy Braverman;Gary Steel;Cassandra Obie;Ann Moser

  • The skipping of constitutive exons in vivo induced by nonsense mutations

    Harry C. Dietz;David Valle;Clair A. Francomano;Raymond J. Kendzior

  • Bipolar I Disorder and Schizophrenia: A 440–Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios

    M. Daniele Fallin;Virginia K. Lasseter;Dimitrios Avramopoulos;Kristin K. Nicodemus

  • DNA methylation regulates MicroRNA expression.

    Liangfeng Han;P. Dane Witmer Witmer;Emily Casey;David Valle

  • Peroxisome biogenesis disorders: genetics and cell biology.

    Stephen J Gould;David Valle

  • Disorders of peroxisome biogenesis

    Nancy Braverman;Gabriele Dodt;Stephen J. Gould;David Valle

  • Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS

    Mattheisen M;Samuels Jf;Wang Y;Greenberg Bd

  • Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli

    Michael Schrader;Bernadette E. Reuber;James C. Morrell;Gerardo Jimenez-Sanchez

  • Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

    Nancy Braverman;Paul Lin;Fabian F. Moebius;Cassandra Obie

Frequent Co-Authors

Ann E. Pulver
Ann E. Pulver Johns Hopkins University School of Medicine
Gerald Nestadt
Gerald Nestadt Johns Hopkins University School of Medicine
Hugo W. Moser
Hugo W. Moser Kennedy Krieger Institute
Dimitrios Avramopoulos
Dimitrios Avramopoulos Johns Hopkins University School of Medicine
Ada Hamosh
Ada Hamosh Johns Hopkins University
Yin Yao Shugart
Yin Yao Shugart National Institutes of Health
Kimberly F. Doheny
Kimberly F. Doheny Johns Hopkins University School of Medicine
Mark A. Riddle
Mark A. Riddle Johns Hopkins University School of Medicine
George H. Thomas
George H. Thomas Kennedy Krieger Institute
M. Daniele Fallin
M. Daniele Fallin Johns Hopkins University

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