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  1. Article ; Online: Implications of Genetic Variants in Cerebral Palsy-Reply.

    Myers, Scott M / Martin, Christa L / Moreno-De-Luca, Andres

    JAMA pediatrics

    2023  Volume 177, Issue 8, Page(s) 872–873

    MeSH term(s) Humans ; Cerebral Palsy/genetics
    Language English
    Publishing date 2023-06-29
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 2701223-2
    ISSN 2168-6211 ; 2168-6203
    ISSN (online) 2168-6211
    ISSN 2168-6203
    DOI 10.1001/jamapediatrics.2023.1858
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  2. Article: The role of homegardens and forest ecosystems for domestication and conservation of Ziziphus spina-christi (L.) Willd. in the Nuba Mountains, Sudan

    Wiehle, Martin / Prinz, Kathleen / Kehlenbeck, Katja / Goenster, Sven / Mohamed, Seifeldin Ali / Buerkert, Andreas / Gebauer, Jens

    Genetic resources and crop evolution. 2014 Dec., v. 61, no. 8

    2014  

    Abstract: ... setting to study such domestication processes. The threatened indigenous fruit tree Ziziphus spina-christi ... in HGs. Z. spina-christi underwent incipient steps of domestication. High genetic diversity in HGs ...

    Abstract Iterative domestication processes by humans such as selection, translocation and cultivation are known to affect the morphological and genetic diversity of tree species. Since many of these species occur also in human-created homegardens (HG) this type of agroecosystem therefore represents an ideal setting to study such domestication processes. The threatened indigenous fruit tree Ziziphus spina-christi occurs in HGs and forests of the Nuba Mountains, Sudan, and was therefore selected as a model species. Five locations were sampled and the geographical position of 250 trees determined. Each location was subdivided into HG and forest sites. The diversities of morphological traits and amplified fragment length polymorphisms were assessed to study variation within and among locations and sites. Diversity of dendrometric parameters and fruit morphometries was high and differed significantly among locations. Environmental parameters affected dendrometry and fruit size, but applied regression models were of low explanatory power. Although statistically not significant, mean fruit measures were continuously larger in HGs than in forests. Higher genetic diversity was observed in HG samples. Larger dendrometric and fruit morphometric traits are likely to result from better growing conditions in HGs and/or human selection of germplasm. This is in line with the higher genetic diversity in HGs which may be a consequence of the admixture of germplasm from different origins planted in HGs. Z. spina-christi underwent incipient steps of domestication. High genetic diversity in HGs suggests those as valuable spots of improved germplasm and for on-farm conservation purposes.
    Keywords Ziziphus spina-christi ; agroecosystems ; amplified fragment length polymorphism ; domestication ; forest ecosystems ; forests ; fruit trees ; genetic variation ; germplasm ; humans ; morphometry ; mountains ; regression analysis ; Sudan
    Language English
    Dates of publication 2014-12
    Size p. 1491-1506.
    Publishing place Springer-Verlag
    Document type Article
    ZDB-ID 1134125-7
    ISSN 0925-9864
    ISSN 0925-9864
    DOI 10.1007/s10722-014-0124-3
    Database NAL-Catalogue (AGRICOLA)

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    In stock of ZB MED Bonn / Germany

    Z 4526: Show issues

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  3. Article ; Online: Response to Biesecker.

    Miller, David T / Martin, Christa L

    Genetics in medicine : official journal of the American College of Medical Genetics

    2017  Volume 19, Issue 5, Page(s) 605

    MeSH term(s) Congenital Hypothyroidism ; Facies ; Humans
    Language English
    Publishing date 2017-04-13
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/gim.2017.25
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: Show issues Location:
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  4. Article ; Online: Cervical Collar Clearance in Obtunded Children Presenting Without a Known Traumatic Mechanism: Is Imaging Necessary?

    Wu, Emma Y / Curran, Pierce L / Zukowski, Monica / King, Tonya S / Martin, Kathryn L / Grant, Christa N

    Journal of pediatric surgery

    2023  Volume 58, Issue 8, Page(s) 1494–1499

    Abstract: Background: Obtunded pediatric patients are often placed in cervical collars (c-collars) to protect their cervical spine (c-spine) while injury is being ruled out, even without a known traumatic injury. The goal of this study was to determine the ... ...

    Abstract Background: Obtunded pediatric patients are often placed in cervical collars (c-collars) to protect their cervical spine (c-spine) while injury is being ruled out, even without a known traumatic injury. The goal of this study was to determine the necessity of c-collars in this population by determining the rate of c-spine injury among patients with suspected non-traumatic mechanisms of loss of consciousness.
    Methods: A single institution, ten-year retrospective chart review was conducted including all obtunded patients admitted to the Pediatric Intensive Care Unit without a known traumatic event. Patients were categorized into five groups based on etiology of obtundation: respiratory, cardiac, medical/metabolic, neurologic, and other. Comparisons were made between those placed in a c-collar and a control group who were not, using Wilcoxon rank sum test for continuous measures, and Chi-square or Fisher's exact test for categorical measures.
    Results: 464 patients were included, of which 39 (8.41%) were placed in a c-collar. There was a significant difference in whether a patient was placed in a c-collar based on diagnosis category (p < 0.001). Those placed in a-c-collar were more likely to undergo imaging studies than the control group (p < 0.001). The overall incidence of c-spine injury in this patient population in our study was zero.
    Conclusion: Cervical collar placement and radiographic evaluation is not necessary in obtunded pediatric patients who present without a known traumatic mechanism as the overall risk of injury is low. Consideration for collar placement should be given in cases when trauma cannot be definitively ruled out at initial evaluation.
    Levels of evidence: III.
    MeSH term(s) Humans ; Child ; Spinal Injuries/diagnostic imaging ; Cervical Vertebrae/diagnostic imaging ; Cervical Vertebrae/injuries ; Retrospective Studies ; Neck Injuries/diagnostic imaging ; Diagnostic Imaging
    Language English
    Publishing date 2023-03-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80165-3
    ISSN 1531-5037 ; 0022-3468
    ISSN (online) 1531-5037
    ISSN 0022-3468
    DOI 10.1016/j.jpedsurg.2023.03.003
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 607: Show issues Location:
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  5. Article ; Online: Response to Spurdle et al.

    Riggs, Erin R / Andersen, Erica F / Kantarci, Sibel / Kearney, Hutton / Patel, Ankita / Raca, Gordana / Ritter, Deborah I / South, Sarah T / Thorland, Erik C / Pineda-Alvarez, Daniel / Aradhya, Swaroop / Martin, Christa L

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 25, Issue 8, Page(s) 100869

    Language English
    Publishing date 2023-06-01
    Publishing country United States
    Document type Letter
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.100869
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  6. Article ; Online: ClinVar Is a Critical Resource to Advance Variant Interpretation.

    Rehm, Heidi L / Harrison, Steven M / Martin, Christa L

    The oncologist

    2017  Volume 22, Issue 12, Page(s) 1562

    MeSH term(s) Databases, Genetic ; Genetic Variation ; Genome, Human ; Humans
    Language English
    Publishing date 2017
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 1409038-7
    ISSN 1549-490X ; 1083-7159
    ISSN (online) 1549-490X
    ISSN 1083-7159
    DOI 10.1634/theoncologist.2017-0246
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    Zs.A 4845: Show issues Location:
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    Zs.MO 494: Show issues

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  7. Article ; Online: Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.

    Gonzalez-Mantilla, Pedro J / Hu, Yirui / Myers, Scott M / Finucane, Brenda M / Ledbetter, David H / Martin, Christa L / Moreno-De-Luca, Andres

    JAMA pediatrics

    2023  Volume 177, Issue 5, Page(s) 472–478

    Abstract: Importance: Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral ... ...

    Abstract Importance: Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral palsy.
    Objective: To evaluate if the diagnostic yield of exome or genome sequencing in cerebral palsy is similar to that of other neurodevelopmental disorders.
    Data sources: The study team searched PubMed for studies published between 2013 and 2022 using cerebral palsy and genetic testing terms. Data were analyzed during March 2022.
    Study selection: Studies performing exome or genome sequencing in at least 10 participants with cerebral palsy were included. Studies with fewer than 10 individuals and studies reporting variants detected by other genetic tests were excluded. Consensus review was performed. The initial search identified 148 studies, of which 13 met inclusion criteria.
    Data extraction and synthesis: Data were extracted by 2 investigators and pooled using a random-effects meta-analysis. Incidence rates with corresponding 95% CIs and prediction intervals were calculated. Publication bias was evaluated by the Egger test. Variability between included studies was assessed via heterogeneity tests using the I2 statistic.
    Main outcomes and measures: The primary outcome was the pooled diagnostic yield (rate of pathogenic/likely pathogenic variants) across studies. Subgroup analyses were performed based on population age and on the use of exclusion criteria for patient selection.
    Results: Thirteen studies were included consisting of 2612 individuals with cerebral palsy. The overall diagnostic yield was 31.1% (95% CI, 24.2%-38.6%; I2 = 91%). The yield was higher in pediatric populations (34.8%; 95% CI, 28.3%-41.5%) than adult populations (26.9%; 95% CI, 1.2%-68.8%) and higher among studies that used exclusion criteria for patient selection (42.1%; 95% CI, 36.0%-48.2%) than those that did not (20.7%; 95% CI, 12.3%-30.5%).
    Conclusions and relevance: In this systematic review and meta-analysis, the genetic diagnostic yield in cerebral palsy was similar to that of other neurodevelopmental disorders for which exome sequencing is recommended as standard of care. Data from this meta-analysis provide evidence to support the inclusion of cerebral palsy in the current recommendation of exome sequencing in the diagnostic evaluation of individuals with neurodevelopmental disorders.
    MeSH term(s) Child ; Adult ; Humans ; Cerebral Palsy ; Autism Spectrum Disorder ; Exome Sequencing ; Genetic Testing ; Genomics
    Language English
    Publishing date 2023-03-06
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Meta-Analysis ; Systematic Review
    ZDB-ID 2701223-2
    ISSN 2168-6211 ; 2168-6203
    ISSN (online) 2168-6211
    ISSN 2168-6203
    DOI 10.1001/jamapediatrics.2023.0008
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    Um IV Zs.74: Show issues Location:
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  8. Article: Mobile Solutions for Clinical Surveillance and Evaluation in Infancy-General Movement Apps.

    Marschik, Peter B / Kwong, Amanda K L / Silva, Nelson / Olsen, Joy E / Schulte-Rüther, Martin / Bölte, Sven / Örtqvist, Maria / Eeles, Abbey / Poustka, Luise / Einspieler, Christa / Nielsen-Saines, Karin / Zhang, Dajie / Spittle, Alicia J

    Journal of clinical medicine

    2023  Volume 12, Issue 10

    Abstract: The Prechtl General Movements Assessment (GMA) has become a clinician and researcher toolbox for evaluating neurodevelopment in early infancy. Given that it involves the observation of infant movements from video recordings, utilising smartphone ... ...

    Abstract The Prechtl General Movements Assessment (GMA) has become a clinician and researcher toolbox for evaluating neurodevelopment in early infancy. Given that it involves the observation of infant movements from video recordings, utilising smartphone applications to obtain these recordings seems like the natural progression for the field. In this review, we look back on the development of apps for acquiring general movement videos, describe the application and research studies of available apps, and discuss future directions of mobile solutions and their usability in research and clinical practice. We emphasise the importance of understanding the background that has led to these developments while introducing new technologies, including the barriers and facilitators along the pathway. The
    Language English
    Publishing date 2023-05-20
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12103576
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  9. Article ; Online: Long overdue: including adults with brain disorders in precision health initiatives.

    Finucane, Brenda M / Myers, Scott M / Martin, Christa L / Ledbetter, David H

    Current opinion in genetics & development

    2020  Volume 65, Page(s) 47–52

    Abstract: Developmental brain disorders (DBD), including autism spectrum disorder, intellectual disability, and schizophrenia, are clinically defined and etiologically heterogeneous conditions with a wide range of outcomes. Rare pathogenic copy number and single ... ...

    Abstract Developmental brain disorders (DBD), including autism spectrum disorder, intellectual disability, and schizophrenia, are clinically defined and etiologically heterogeneous conditions with a wide range of outcomes. Rare pathogenic copy number and single nucleotide genomic variants are among the most common known etiologies, with diagnostic yields approaching for some DBD cohorts. Incorporating genetic testing into the care of adult patients with DBD, paired with targeted genetic counseling and family cascade testing, may increase self-advocacy and decrease stigma. In the long-term, breakthroughs in the understanding of DBD pathophysiology will hinge on the identification, engagement, and study of individuals with rare genetic DBD etiologies, consistent with successful precision medicine approaches to the treatment of cancer and cardiovascular disease.
    MeSH term(s) Adult ; Brain Diseases/diagnosis ; Brain Diseases/genetics ; DNA Copy Number Variations ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Genomics/methods ; Humans ; Precision Medicine
    Language English
    Publishing date 2020-06-13
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2020.05.001
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3240: Show issues Location:
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  10. Article ; Online: Identification of a novel missense variant in SLC45A2 associated with dilute snowdrop phenotype in Gypsy horses.

    Bisbee, Danielle / Carpenter, Meredith L / Hoefs-Martin, Katie / Brooks, Samantha A / Lafayette, Christa

    Animal genetics

    2020  Volume 51, Issue 2, Page(s) 342–343

    MeSH term(s) Animals ; Female ; Horses/genetics ; Male ; Membrane Transport Proteins/genetics ; Mutation, Missense ; Pigmentation
    Chemical Substances Membrane Transport Proteins
    Language English
    Publishing date 2020-01-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 632766-7
    ISSN 1365-2052 ; 0268-9146 ; 0268-9154
    ISSN (online) 1365-2052
    ISSN 0268-9146 ; 0268-9154
    DOI 10.1111/age.12913
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