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  1. Article ; Online: Lessons in genetics: Common diseases occur in patients with a genetic syndrome.

    Robin, Nathaniel H

    American journal of medical genetics. Part A

    2022  Volume 191, Issue 2, Page(s) 634–635

    MeSH term(s) Humans ; Genetic Predisposition to Disease
    Language English
    Publishing date 2022-11-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63046
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1376/A: Show issues Location:
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  2. Article ; Online: Choose your words carefully.

    Robin, Nathaniel H

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 7, Page(s) 1953

    MeSH term(s) Education, Medical ; Female ; Humans ; Internship and Residency
    Language English
    Publishing date 2021-04-08
    Publishing country United States
    Document type Editorial
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62206
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: "Why did I choose genetics?": A survey of current and recent medical genetics and genomics residents provides insight into recruitment efforts.

    Hayek, Jennifer Cassady / Blitzer, Miriam G / Robin, Nathaniel H

    American journal of medical genetics. Part A

    2024  , Page(s) e63623

    Abstract: There is a shortage of clinical geneticists, even with concerted recruitment efforts. Previously, no data had been collected about why young career geneticists chose this specialty. To investigate this question, we carried out a survey of current and ... ...

    Abstract There is a shortage of clinical geneticists, even with concerted recruitment efforts. Previously, no data had been collected about why young career geneticists chose this specialty. To investigate this question, we carried out a survey of current and recent medical genetics and genomics residents. The goal of this survey was to understand their reasons for pursuing medical genetics and genomics as a specialty. Results demonstrate that, for most, interest in genetics begins in medical school and was largely influenced by mentorship. This suggests that placing greater focus on introducing medical genetics as a clinical specialty and fostering robust mentorship of students in preclinical years may increase recruitment into medical genetics residencies.
    Language English
    Publishing date 2024-04-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63623
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Book: Medical genetics

    Robin, Nathaniel H.

    its application to speech, hearing, and craniofacial disorders

    (Genetic syndromes and communication disorders series)

    2008  

    Author's details Nathaniel H. Robin
    Series title Genetic syndromes and communication disorders series
    Keywords Genetics, Medical ; Genetic Screening ; Genetic Diseases, Inborn
    Language English
    Size XII, 182 S. : Ill., graph. Darst.
    Publisher Plural Publ
    Publishing place San Diego, Calif. u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT015663466
    ISBN 978-1-59756-258-4 ; 1-59756-258-0
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2008 A 5143 order for loan Magazin

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  5. Article ; Online: One academic medical center's experience in growing the genetic counseling service.

    Robin, Nathaniel H / McClinchey, Taylor N

    Current opinion in pediatrics

    2023  Volume 35, Issue 6, Page(s) 611–614

    MeSH term(s) Humans ; Genetic Counseling ; Academic Medical Centers
    Language English
    Publishing date 2023-11-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000001288
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Teaching dysmorphology in the era of genomics: new technologies, new learners.

    Robin, Nathaniel H

    Current opinion in pediatrics

    2018  Volume 30, Issue 6, Page(s) 699–700

    MeSH term(s) Child Development ; Congenital Abnormalities/genetics ; Disease Management ; Genetic Counseling ; Genomics/education ; Genomics/trends ; Humans ; Infant ; Infant, Newborn ; Learning ; Practice Patterns, Physicians'
    Language English
    Publishing date 2018-08-15
    Publishing country United States
    Document type Editorial
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000000678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Editorial: Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom.

    Shur, Natasha / Robin, Nathaniel H

    Current opinion in pediatrics

    2020  Volume 33, Issue 1, Page(s) 1–2

    MeSH term(s) Child ; Child Abuse/diagnosis ; Expert Testimony ; Genetics, Medical ; Humans
    Language English
    Publishing date 2020-12-18
    Publishing country United States
    Document type Editorial
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000000987
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Growth parameters: the cheap and easy genetic test.

    Robin, Nathaniel H

    Current opinion in pediatrics

    2016  Volume 28, Issue 6, Page(s) 679–681

    MeSH term(s) Age Factors ; Body Height ; Body Weight ; Child, Preschool ; Failure to Thrive/diagnosis ; Genetic Testing ; Growth ; Humans ; Infant ; Male ; Physical Examination
    Language English
    Publishing date 2016-09-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000000423
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Editorial: Prenatal genetic testing.

    Jenkins, Morgan / Seasely, Angela R / Subramaniam, Akila / Robin, Nathaniel H

    Current opinion in pediatrics

    2022  Volume 34, Issue 6, Page(s) 531–532

    MeSH term(s) Pregnancy ; Female ; Humans ; Genetic Testing ; Genetic Counseling
    Language English
    Publishing date 2022-11-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000001175
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Occam's razor dulled: the occurrence of multiple genetic diagnoses.

    Linscott, Kristin B / Cassady, Jennifer A / Robin, Nathaniel H

    Current opinion in pediatrics

    2021  Volume 33, Issue 6, Page(s) 545–548

    Abstract: Purpose of review: A single genetic diagnosis, especially from the analysis of a limited number of genes, may not signal the end of a diagnostic odyssey. When a patient with a genetic syndrome presents with symptoms that are not usually associated with ... ...

    Abstract Purpose of review: A single genetic diagnosis, especially from the analysis of a limited number of genes, may not signal the end of a diagnostic odyssey. When a patient with a genetic syndrome presents with symptoms that are not usually associated with their disease phenotype, additional genetic testing is warranted.
    Recent findings: Although multiple co-existing genetic diagnoses may sound unlikely, many recent studies and case reports have demonstrated that this scenario is more common than expected. Studies involving whole exome and genome sequencing have identified a frequency of multiple genetic diagnoses and have identified clinical findings that make a second diagnosis more likely, which we have seen reflected in recent cases from our own clinic and consult service. These include multisystem disease, consanguinity, well described aneuploidies with rare or new symptoms, and complex structural chromosomal anomalies which may include multiple chromosomes and breakpoints that disrupt gene function.
    Summary: Identifying a second diagnosis can have vast implications for patient management and counseling. Patients can be followed with appropriate medical screening and early interventions to support optimal child development. Furthermore, the patient's family can be impacted by ending the diagnostic odyssey, providing testing for other at-risk family members, and offering prenatal options.
    MeSH term(s) Exome ; Family ; Female ; Genetic Testing ; Humans ; Phenotype ; Pregnancy ; Exome Sequencing
    Language English
    Publishing date 2021-10-15
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000001072
    Database MEDical Literature Analysis and Retrieval System OnLINE

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