Search Results - Hamosh, Ada

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  1. 1
    Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes

    Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes by Amberger, Joanna S., Hamosh, Ada

    Published 2017
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  2. 2
    What’s in a name? Issues to consider when naming Mendelian disorders

    What’s in a name? Issues to consider when naming Mendelian disorders by Rasmussen, Sonja A., Hamosh, Ada

    Published 2020
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  3. 3
    Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction

    Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction by Rasmussen, Sonja A., Hamosh, Ada

    Published 2021
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  4. 4
    GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

    GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene by Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada

    Published 2015
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  5. 5
    Viewing Victor McKusick’s Legacy through the Lens of his Bibliography

    Viewing Victor McKusick’s Legacy through the Lens of his Bibliography by Rasmussen, Sonja A., Pomputius, Ariel, Amberger, Joanna S., Hamosh, Ada

    Published 2021
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  6. 6
    Three decades of the Human Genome Organization

    Three decades of the Human Genome Organization by Lee, Charles, Antonarakis, Stylianos E., Hamosh, Ada, Burn, John

    Published 2021
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  7. 7
    McKusick's Online Mendelian Inheritance in Man (OMIM®)

    McKusick's Online Mendelian Inheritance in Man (OMIM®) by Amberger, Joanna, Bocchini, Carol A., Scott, Alan F., Hamosh, Ada

    Published 2009
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  8. 8
    New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

    New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene by Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada

    Published 2015
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  9. 9
    Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles

    Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles by Diehl, Adam C., Reader, Lauren, Hamosh, Ada, Bodurtha, Joann N.

    Published 2014
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  10. 10
    OMIM.org: leveraging knowledge across phenotype–gene relationships

    OMIM.org: leveraging knowledge across phenotype–gene relationships by Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada

    Published 2019
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  11. 11
    Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy

    Maternal Hyperphenylalaninemia: Rapid achievement of metabolic control predicts overall control throughout pregnancy by Martino, Teresa, Koerner, Celide, Yenokyan, Gayane, Hoover-Fong, Julie, Hamosh, Ada

    Published 2013
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  12. 12
    Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking

    Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking by Boycott, Kym M., Azzariti, Danielle R., Hamosh, Ada, Rehm, Heidi L.

    Published 2022
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  13. 13
    OMIM.org: Online Mendelian Inheritance in Man (OMIM(®)), an online catalog of human genes and genetic disorders

    OMIM.org: Online Mendelian Inheritance in Man (OMIM(®)), an online catalog of human genes and genetic disorders by Amberger, Joanna S., Bocchini, Carol A., Schiettecatte, François, Scott, Alan F., Hamosh, Ada

    Published 2014
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  14. 14
    Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

    Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus by Hamosh, Ada, Amberger, Joanna S., Bocchini, Carol, Scott, Alan F., Rasmussen, Sonja A.

    Published 2021
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  15. 15
    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders by Hamosh, Ada, Scott, Alan F., Amberger, Joanna S., Bocchini, Carol A., McKusick, Victor A.

    Published 2005
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  16. 16
    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders by Hamosh, Ada, Scott, Alan F., Amberger, Joanna, Bocchini, Carol, Valle, David, McKusick, Victor A.

    Published 2002
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  17. 17
    PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

    PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features by Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

    Published 2013
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  18. 18
    The Management of Pregnancy and Delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

    The Management of Pregnancy and Delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency by Pipitone, Angela, Raval, Donna B., Duis, Jessica, Vernon, Hilary, Martin, Regina, Hamosh, Ada, Valle, David, Gunay-Aygun, Meral

    Published 2016
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  19. 19
    Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

    Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases by Smedley, Damian, Köhler, Sebastian, Czeschik, Johanna Christina, Amberger, Joanna, Bocchini, Carol, Hamosh, Ada, Veldboer, Julian, Zemojtel, Tomasz, Robinson, Peter N.

    Published 2014
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  20. 20
    Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

    Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics by Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara

    Published 2015
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