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  1. Article ; Online: Central nervous system involvement in individuals with RASopathies.

    Weaver, K Nicole / Gripp, Karen W

    American journal of medical genetics. Part C, Seminars in medical genetics

    2022  Volume 190, Issue 4, Page(s) 494–500

    Abstract: Central nervous system (CNS) anomalies are common in individuals with RASopathies. While certain findings, including relative or absolute macrocephaly, are typical for most RASopathies, other findings are more common in certain conditions, with rare low- ... ...

    Abstract Central nervous system (CNS) anomalies are common in individuals with RASopathies. While certain findings, including relative or absolute macrocephaly, are typical for most RASopathies, other findings are more common in certain conditions, with rare low-grade gliomas in Noonan syndrome (NS); Chiari 1 malformation and tethered cord in Costello syndrome (CS); and variable structural anomalies including heterotopia and hydrocephalus in cardio-facio-cutaneous syndrome (CFC). We performed a literature review and present aggregate data on the common and uncommon CNS manifestations in individuals with RASopathies. A gene-based approach to defining risk for specific abnormalities may be considered. However, limited information on the CNS findings of rare RASopathies, such as autosomal recessive LZTR1-related NS or PPP1CB-related NS with loose anagen hair (NSLH), is currently available. Thus, consideration of the RASopathies as a group of distinct syndromic conditions with shared underlying causes and overlapping clinical presentations remains relevant, and individuals with a RASopathy are at risk for many findings seen in these conditions.
    MeSH term(s) Humans ; Noonan Syndrome/genetics ; Heart Defects, Congenital ; Failure to Thrive ; Facies ; Central Nervous System ; Mutation ; Transcription Factors
    Chemical Substances LZTR1 protein, human ; Transcription Factors
    Language English
    Publishing date 2022-12-01
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32023
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  2. Article ; Online: Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.

    Patel, Dhrumil Deveshkumar / Gripp, Karen W / Wadman, Erin / Mishra, Ishita / Kandula, Vinay

    American journal of medical genetics. Part A

    2024  , Page(s) e63593

    Abstract: Biallelic pathogenic variants in ZNF335 are one of the genetic causes of microcephaly, reported only in the past decade. It regulates neural progenitor proliferation and neurogenesis by interacting with a H3K4 methyltransferase complex. Biallelic ... ...

    Abstract Biallelic pathogenic variants in ZNF335 are one of the genetic causes of microcephaly, reported only in the past decade. It regulates neural progenitor proliferation and neurogenesis by interacting with a H3K4 methyltransferase complex. Biallelic pathogenic ZNF335 variants predispose to neuronal cell death and aberrant differentiation, thus causing secondary microcephaly. These neurodevelopmental anomalies lead to imaging findings in the cortex, posterior fossa, and basal ganglia. We report an individual of Nepalese ancestry with a novel homozygous ZNF335 variant (c.3591 + 2dup) (p.?) (NM_022095.3) which on further RNA analysis confirmed a splice site variant in intron 23. The patient presented with primary microcephaly with atrophic cerebral hemispheres, oversimplification of gyri, basal ganglia, and corpus callosal atrophy. Literature review on the topic revealed a spectrum of brain abnormalities, which can present either with a primary or secondary microcephaly depending upon the underlying genetic variant.
    Language English
    Publishing date 2024-03-28
    Publishing country United States
    Document type Case Reports
    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.63593
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  3. Article ; Online: Differentiating between copy-number-variation and gain-of-function mutation.

    Gripp, Karen W

    American journal of medical genetics. Part A

    2015  Volume 167A, Issue 11, Page(s) 2684

    MeSH term(s) DNA Copy Number Variations ; Gene Dosage ; Humans ; Mutation
    Language English
    Publishing date 2015-07-02
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.37220
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  4. Book ; Thesis: Untersuchungen zur Chromosomenstabilität bei Ehepaaren mit wiederholten Spontanaborten

    Gripp, Karen W.

    1989  

    Author's details vorgelegt von Karen Gripp
    Size 42 S. : Ill., graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Kiel, Univ., Diss., 1989
    HBZ-ID HT003690244
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
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  5. Article ; Online: 41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.

    Gripp, Karen W / Jones, Kenneth Lyons / Wenger, Tara L / Adam, Margaret P

    American journal of medical genetics. Part A

    2021  , Page(s) 1328–1337

    Abstract: The 41st Annual David W. Smith Workshop on Malformation and Morphogenesis was scheduled to take ... abstracts submitted by trainees and presented at the 2020 virtual David W. Smith Workshop. ...

    Abstract The 41st Annual David W. Smith Workshop on Malformation and Morphogenesis was scheduled to take place in Skamania, Washington, on September 11-16, 2020. Due to the COVID-19 pandemic and the associated recommendations to avoid travel and congregation in large groups, this meeting took place differently from its original plan. Rather than bringing trainees, clinicians and researchers with an interest in congenital malformations and their underlying morphogenesis together for several days in a workshop with submitted presentations and research lectures, this meeting took place virtually. A 1 day online meeting was organized in order to allow trainees to present their work. This Conference Report includes the highest scoring abstracts submitted by trainees and presented at the 2020 virtual David W. Smith Workshop.
    Language English
    Publishing date 2021-01-12
    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.62062
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  6. Article ; Online: The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider.

    Thomas, Morgan / Amlie-Wolf, Louise / Baker, Laura / Gripp, Karen W

    Delaware journal of public health

    2021  Volume 7, Issue 5, Page(s) 20–23

    Abstract: Genetic/genomic testing can reveal important diagnostic information, provided the appropriate test is chosen and the results are interpreted accurately. Choosing an informative, cost-effective genetic testing strategy is a complex process. Nemours' ... ...

    Abstract Genetic/genomic testing can reveal important diagnostic information, provided the appropriate test is chosen and the results are interpreted accurately. Choosing an informative, cost-effective genetic testing strategy is a complex process. Nemours' Genetic Testing Stewardship Program (GTSP) is a genetic counselor-staffed consultative service serving the Nemours Children's Health (NCH) system. This program assists non-genetics providers and their patients access genetic testing for improved patient care and reduced costs. GTSP genetic counselors provide pre- and post-test genetic counseling, obtain informed consent, ensure complete documentation, and provide results interpretation/disclosure support for ordering providers. Implementation of this program began with genetic testing needs assessments and presentations about this novel service at subspecialty division meetings. GTSP expanded at NCH Delaware and NCH Orlando to include review of inpatient genetic testing for medical necessity. GTSP has experienced success from provider satisfaction and cost savings perspectives. GTSP has produced cost savings of >$400,000, supporting financial sustainability of the program. Additionally, genetic counselors bill for visits, creating the foundation for a future revenue stream which is likely to increase as reimbursement for genetic counseling services improves. GTSP has become integral in the NCH system by improving patient access to genetic testing in a safe, efficient, effective manner.
    Language English
    Publishing date 2021-12-15
    Publishing country United States
    Document type Journal Article
    ISSN 2639-6378
    ISSN (online) 2639-6378
    DOI 10.32481/djph.2021.12.007
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  7. Article ; Online: Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution.

    Zarate, Yuri A / Bosanko, Katherine A / Gripp, Karen W

    Journal of human genetics

    2019  Volume 64, Issue 12, Page(s) 1243–1245

    MeSH term(s) Face ; Humans ; Japan ; Osteochondrodysplasias ; Syndrome ; Urogenital Abnormalities
    Language English
    Publishing date 2019-09-24
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-019-0673-6
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  8. Article ; Online: Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes.

    Gripp, Karen W

    American journal of medical genetics. Part A

    2011  Volume 155A, Issue 7, Page(s) 1773–4; author reply 1775

    MeSH term(s) Dilatation, Pathologic/complications ; Female ; Hajdu-Cheney Syndrome/complications ; Humans ; Lumbar Vertebrae/abnormalities ; Male ; Pregnancy
    Language English
    Publishing date 2011-06-10
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.34075
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  9. Article ; Online: HRAS

    Rodríguez, Nelson A / Patel, Nihir / Dariolli, Rafael / Ng, Simon / Aleman, Angelika G / Gong, Jingqi Q X / Lin, Hung-Mo / Rodríguez, Matthew / Josowitz, Rebecca / Sol-Church, Katia / Gripp, Karen W / Lin, Xianming / Song, Soomin C / Fishman, Glenn I / Sobie, Eric A / Gelb, Bruce D

    Circulation. Arrhythmia and electrophysiology

    2024  Volume 17, Issue 4, Page(s) e012022

    Abstract: Background: Germline : Methods: HRAS: Results: ACMs harboring : Conclusions: CS-associated gain-of- ... ...

    Abstract Background: Germline
    Methods: HRAS
    Results: ACMs harboring
    Conclusions: CS-associated gain-of-function
    MeSH term(s) Humans ; Child, Preschool ; Myocytes, Cardiac/metabolism ; Calcium/metabolism ; Heart Atria/metabolism ; Tachycardia ; Calcium Channels/metabolism ; Induced Pluripotent Stem Cells/metabolism ; Action Potentials/physiology ; Cell Differentiation ; Proto-Oncogene Proteins p21(ras)/genetics ; Proto-Oncogene Proteins p21(ras)/metabolism
    Chemical Substances Calcium (SY7Q814VUP) ; Calcium Channels ; HRAS protein, human (EC 3.6.5.2) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
    Language English
    Publishing date 2024-02-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2426129-4
    ISSN 1941-3084 ; 1941-3149
    ISSN (online) 1941-3084
    ISSN 1941-3149
    DOI 10.1161/CIRCEP.123.012022
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  10. Article ; Online: Craniosynostosis is a feature of Costello syndrome.

    Weaver, K Nicole / Care, Marguerite / Wakefield, Emily / Zarate, Yuri A / Skoch, Jesse / Gripp, Karen W / Prada, Carlos E

    American journal of medical genetics. Part A

    2021  Volume 188, Issue 4, Page(s) 1280–1286

    Abstract: Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and ... ...

    Abstract Costello syndrome (CS) is an autosomal dominant disorder caused by pathogenic variants in HRAS. Craniosynostosis is a known feature of other RASopathies (Noonan and cardiofaciocutaneous syndromes) but not CS. We describe four individuals with CS and craniosynostosis and present a summary of all previously reported individuals with craniosynostosis and RASopathy.
    MeSH term(s) Costello Syndrome/diagnosis ; Costello Syndrome/genetics ; Craniosynostoses/diagnosis ; Craniosynostoses/genetics ; Ectodermal Dysplasia ; Facies ; Failure to Thrive ; Humans ; Noonan Syndrome
    Language English
    Publishing date 2021-12-28
    Publishing country United States
    Document type Case Reports
    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.62620
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