1,004 top medical experts on Inborn Genetic Diseases across 51 countries and 41 U.S. states, including 913 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Inborn Genetic Diseases: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): and Neonatal Diseases and Abnormalities Hereditary Congenital (14) and Narrower Categories: Alagille Syndrome (1,017), Ataxia Telangiectasia (2,645), Autoimmune Lymphoproliferative Syndrome (1,059), Brugada Syndrome (1,871), CADASIL (1,915), CHARGE Syndrome (1,232), Camurati-Engelmann Syndrome (234), Cherubism (376), Chromosome Disorders (2,206), Ciliopathies (1,657), Congenital Adrenal Hyperplasia (1,543), Congenital Hemolytic Anemia (870), Congenital Hypoplastic Anemia (16), Congenital Myasthenic Syndromes (1,452), Congenital Pain Insensitivity (445), Costello Syndrome (682), Cystic Fibrosis (5,336), Donohue Syndrome (245), Dwarfism (1,222), Familial Dysalbuminemic Hyperthyroxinemia (131), Familial Hypertrophic Cardiomyopathy (1,211), Familial Multiple Lipomatosis (10), Frasier Syndrome (119), GATA2 Deficiency (507), Genetic Skin Diseases (3,548), Hajdu-Cheney Syndrome (368), Hemoglobinopathies (2,767), Hereditary Autoinflammatory Diseases (2,464), Hereditary Eye Diseases (901), Hereditary Neoplastic Syndromes (1,826), Hyper-IgM Immunodeficiency Syndrome (770), Inborn Errors Metabolism (1,547), Inborn Errors Renal Tubular Transport (984), Inherited Blood Coagulation Disorders (1,267), Kallmann Syndrome (974), Kartagener Syndrome (1,683), Laminopathies (306), Lennox Gastaut Syndrome (794), Loeys-Dietz Syndrome (1,360), Marfan Syndrome (1,812), Muscular Dystrophies (1,543), Nail-Patella Syndrome (364), Nervous System Heredodegenerative Disorders (865), Oculocerebrorenal Syndrome (526), Orofaciodigital Syndromes (678), Osteochondrodysplasias (1,587), Osteogenesis Imperfecta (1,245), Pelger-Huet Anomaly (220), Primary Hypertrophic Osteoarthropathy (649), Primary Immunodeficiency Diseases (1,145), Pycnodysostosis (330), Werner Syndrome (884), X-Linked Genetic Diseases (2,304), Y-Linked Genetic Diseases (122), Yellow Nail Syndrome (280), alpha 1-Antitrypsin Deficiency (867).
  4. Clinical Trials ClinicalTrials.gov : at least 236 including 25 Active, 84 Completed, 66 Recruiting
  5. Synonyms: Hereditary Diseases


  

        

                    


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  1. Lupski, James R   Pediatrics   Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. Top Hospital
    Physician  Highly Cited  Highly Published 
    Subjects: Genetic Diseases, Inborn; DNA Copy Number Variations; Genomics; Genetic Variation; Genetics, Medical; Genome, Human
    Categories: Genetics; Methods; Diagnosis; Trends; Cytology; Embryology
    Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
    Molecular findings among patients referred for clinical whole-exome sequencing. (2014)

  2. Beaudet, Arthur L   Pediatrics   Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States of America. Top Hospital
    Physician  Highly Cited  Highly Published 
    Subjects: Genetic Diseases, Inborn; DNA Copy Number Variations; Genetic Testing; High-Throughput Nucleotide Sequencing; Sequence Analysis, DNA; Exome
    Categories: Methods; Genetics; Diagnosis; Cytology; Drug Therapy; Prevention & Control
    Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
    Molecular findings among patients referred for clinical whole-exome sequencing. (2014)

  3. Eng, Christine M   Pediatrics   Google Publications
    Baylor Genetics, Houston, TX, USA.
    Physician  Highly Cited  Highly Published 
    Subjects: Genetic Diseases, Inborn; Sequence Analysis, DNA; Genetic Testing; Exome; Whole Exome Sequencing; Fetus
    Categories: Methods; Diagnosis; Genetics; Diagnostic Imaging; Blood; Pathology
    Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
    Molecular findings among patients referred for clinical whole-exome sequencing. (2014)

  4. Gibbs, Richard A   General Practice   Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: . Top Hospital
    Physician  Highly Cited  Highly Published 
    Disclosed payments in 2021 from 2 biomedical companies, totalling $26.79, including $26.79 from  GlaxoSmithKline, LLC.
    Subjects: Genetic Diseases, Inborn; Genetics, Medical; Genome, Human; Genomics; Sequence Analysis, DNA; DNA Copy Number Variations
    Categories: Genetics; Methods; Diagnosis; Diagnostic Imaging; Pathology; Trends
    Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
    Molecular findings among patients referred for clinical whole-exome sequencing. (2014)

  5. Wapner, Ronald J   Maternal & Fetal Medicine   ClinicalTrials.gov Google Publications
    Department of Obstetrics and Gynecology, Columbia University, New York, NY, USA.
    Physician  Highly Cited  Highly Published  Guideline 
    Medical school: Jefferson Medical College of Thomas Jefferson University (MD, 1972)
    Medicare Accepted
    Subjects: Genetic Diseases, Inborn; Genetic Carrier Screening; Prenatal Diagnosis; Biological Ontologies; Congenital Abnormalities; Databases, Factual
    Categories: Diagnosis; Genetics; Trends; Methods
    The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. (2014)
    Promises, pitfalls and practicalities of prenatal whole exome sequencing. (2018)

  6. Hamosh, Ada   Pediatrics   Google Publications
    Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA. Top Hospital
    Physician  Highly Cited  Highly Published 
    Subjects: Genetic Diseases, Inborn; Genetics, Medical; Computational Biology; Databases, Genetic; Genetic Association Studies; Genetic Predisposition to Disease
    Categories: Genetics; Methods; Trends; History; Organization & Administration
    OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. (2015)
    OMIM.org: leveraging knowledge across phenotype-gene relationships. (2019)

  7. Posey, Jennifer E   Internal Medicine   Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Top Hospital
    Physician  Highly Cited  Highly Published  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 75.8/100
    Subjects: Genetic Diseases, Inborn; Genetic Testing; Genetic Variation; Genome, Human; Genomics; Sequence Analysis, DNA
    Categories: Genetics; Methods; Diagnosis; Trends
    Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. (2017)
    Reanalysis of Clinical Exome Sequencing Data. (2019)

  8. Goldstein, David B   Cardiovascular Disease   Google Publications
    Institute for Genomic Medicine, Columbia University, New York, New York, USA. .
    Physician  Highly Cited  Highly Published  Case Reports 
    Subjects: Genetic Diseases, Inborn; Exome; Sequence Analysis, DNA; Genetic Variation; High-Throughput Nucleotide Sequencing; Mutation
    Categories: Genetics; Methods; Diagnosis; Immunology; Psychology
    Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
    Clinical application of exome sequencing in undiagnosed genetic conditions. (2012)

  9. Lalani, Seema R   Pediatrics   Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Top Hospital
    Physician  Highly Cited  Highly Published 
    Subjects: Genetic Diseases, Inborn; DNA Copy Number Variations; Whole Exome Sequencing; Alleles; Genomics; Sequence Analysis, DNA
    Categories: Genetics; Methods; Diagnosis; Trends; Cytology
    Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. (2017)
    Reanalysis of Clinical Exome Sequencing Data. (2019)

  10. Plon, Sharon E  Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Top Hospital
    Scientist  Highly Cited  Highly Published 
    Subjects: Genetic Diseases, Inborn; Sequence Analysis, DNA; Exome; Genetic Testing; Genetic Variation; Genome, Human
    Categories: Methods; Diagnosis; Genetics
    Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
    Molecular findings among patients referred for clinical whole-exome sequencing. (2014)

  11. Nussbaum, Robert L   Internal Medicine  Google Publications
    Invitae Corporation, San Francisco, CA 94103, USA; Volunteer Clinical Faculty, University of California, San Francisco, San Francisco, CA 94143, USA. Top Hospital
    Physician 
    Disclosed payments in 2021 from 2 biomedical companies, totalling $23,850, including $23,850 from  PFIZER INC.
    Subjects: Genetic Diseases, Inborn; Genetic Predisposition to Disease; Genetic Variation; Databases, Genetic; Genetic Testing; Genome, Human
    Categories: Genetics; Diagnosis; Standards
    ClinGen--the Clinical Genome Resource. (2015)
    Prevalence and properties of intragenic copy-number variation in Mendelian disease genes. (2019)

  12. Berg, Jonathan S   Hematology & Oncology   ClinicalTrials.gov Google Publications
    Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 76/100
    Subjects: Genetic Diseases, Inborn; Genetic Testing; Genome, Human; High-Throughput Nucleotide Sequencing; Choice Behavior; Family Planning Services
    Categories: Diagnosis; Methods; Ethics; Genetics; Psychology; Classification
    ClinGen--the Clinical Genome Resource. (2015)
    A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. (2016)

  13. Sutton, Vernon Reid   Pediatrics   Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Childrens Hospital, Houston, TX 77030, USA. Top Hospital
    Physician  Highly Cited  Highly Published 
    Disclosed payments from biomedical company (Horizon Therapeutics plc) in 2021 for $2,500
    Subjects: Genetic Diseases, Inborn; Genetic Testing; Genetic Variation; Genetics, Medical; Genome, Human; Genomics
    Categories: Genetics; Methods; Diagnosis; Trends; Classification; Standards
    Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. (2017)
    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015)

  14. Evans, James P   Internal Medicine  Google Publications
    Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
    Physician 
    Subjects: Genetic Diseases, Inborn; Genetic Testing; Genetic Variation; Genome, Human; Databases, Genetic; Genetic Predisposition to Disease
    Categories: Diagnosis; Genetics; Methods
    ClinGen--the Clinical Genome Resource. (2015)
    A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. (2016)

  15. Scott, Alan F   Emergency Medicine  Google Publications
    Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. Top Hospital
    Physician  Highly Cited  Highly Published 
    Medical school: Other (MD, 2002)
    Medicare Accepted
    Subjects: Genetic Diseases, Inborn; Databases, Genetic; Genetics, Medical; Phenotype; Computational Biology; Genes
    Categories: Genetics; Methods; History; Diagnosis; Trends
    OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. (2015)
    OMIM.org: leveraging knowledge across phenotype-gene relationships. (2019)

  16. Wangler, Michael F   Pediatrics  Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Top Hospital
    Physician 
    Subjects: Genetic Diseases, Inborn; Computational Biology; DNA Copy Number Variations; Disease Models, Animal; Genetic Predisposition to Disease; Genetic Variation
    Categories: Genetics; Methods; Diagnosis
    Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. (2017)
    Lessons learned from additional research analyses of unsolved clinical exome cases. (2017)

  17. Nelson, Stanley F   Pediatrics   Google Publications
    Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA. .
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 68/100
    Disclosed payments in 2021 from 14 biomedical companies, totalling $16,591.85, including $14,787.5 from  PTC Therapeutics, Inc.
    Subjects: Genetic Diseases, Inborn; Exome; Rare Diseases; Algorithms; Computational Biology; Models, Statistical
    Categories: Diagnosis; Genetics; Methods
    Clinical exome sequencing for genetic identification of rare Mendelian disorders. (2014)
    Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. (2020)

  18. Smoller, Jordan W   Psychiatry  Google Publications
    Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, United States of America. Top Hospital
    Physician 
    Subjects: Genetic Diseases, Inborn; Phenotype; Genetic Variation; Gene-Environment Interaction; Genetic Predisposition to Disease; Genome-Wide Association Study
    Categories: Genetics; Methods
    Pleiotropy in complex traits: challenges and strategies. (2013)
    Phenome-wide heritability analysis of the UK Biobank. (2017)

  19. Burrage, Lindsay C   Pediatrics   Google Publications
    Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Childrens Hospital, Houston, TX, USA. Electronic address: . Top Hospital
    Physician  Clinical Trial  Case Reports 
    Relevant US NIH Grant Funding: $161,974 over the last 5 years
    Medicare MIPS (Merit-based Incentive Payment System) rating: 75.8/100
    Subjects: Genetic Diseases, Inborn; Argininosuccinate Lyase; Databases, Factual; Diagnosis, Computer-Assisted; Fibroblasts; Genetic Testing
    Categories: Blood; Diagnosis; Methods; Genetics
    Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. (2017)
    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. (2021)

  20. Bacino, Carlos A   Pediatrics  Google Publications
    Department of Molecular and Human Genetics, Baylor College of Medicine BCM, Houston, Texas, USA. Top Hospital
    Physician  Highly Cited  Highly Published  Clinical Trial 
    Disclosed payments from biomedical company (BioMarin Pharmaceutical Inc.) in 2021 for $3,924.46
    Subjects: Genetic Diseases, Inborn; DNA Copy Number Variations; Alleles; Chromosome Aberrations; Chromosome Disorders; Computational Biology
    Categories: Genetics; Methods; Diagnosis; Cytology; Embryology
    Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. (2017)
    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. (2021)

Note:
  1. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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