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  1. Article ; Online: Point: Treating Human Genetic Disease One Base Pair at a Time: The Benefits of Gene Editing.

    Katsanis, Nicholas

    Clinical chemistry

    2018  Volume 64, Issue 3, Page(s) 486–488

    MeSH term(s) CRISPR-Cas Systems ; Gene Editing/methods ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/therapy ; Genetic Therapy/methods ; Human Genetics/methods ; Humans
    Language English
    Publishing date 2018-04-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1373/clinchem.2017.278309
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: 2017 Curt Stern Award: The Complexity of Simple Genetics.

    Katsanis, Nicholas

    American journal of human genetics

    2018  Volume 102, Issue 3, Page(s) 355–358

    MeSH term(s) Awards and Prizes ; Bardet-Biedl Syndrome/genetics ; Genetics, Medical ; History, 20th Century ; History, 21st Century ; Humans
    Language English
    Publishing date 2018-04-06
    Publishing country United States
    Document type Address ; Autobiography ; Historical Article ; Journal Article ; Portrait
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.02.004
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  3. Article ; Online: The continuum of causality in human genetic disorders.

    Katsanis, Nicholas

    Genome biology

    2016  Volume 17, Issue 1, Page(s) 233

    Abstract: Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on ... ...

    Abstract Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on their population frequencies. The availability of exome and genome data, as well as gene and allele discovery for various conditions, is beginning to challenge classic definitions of genetic causality. Here, I discuss recent advances in our understanding of the overlap between rare and complex diseases and the context-dependent effect of both rare and common alleles that underscores the need for revising the traditional categorizations of genetic traits.
    MeSH term(s) Alleles ; Genetic Diseases, Inborn ; Genetic Predisposition to Disease ; Genetics, Medical/trends ; Genetics, Population ; Genome, Human ; Genome-Wide Association Study ; Humans ; Pedigree ; Rare Diseases/genetics
    Language English
    Publishing date 2016-11-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2040529-7
    ISSN 1474-760X ; 1465-6914 ; 1465-6906
    ISSN (online) 1474-760X ; 1465-6914
    ISSN 1465-6906
    DOI 10.1186/s13059-016-1107-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models.

    Yusuff, Tanzeen / Kellaris, Georgios / Girirajan, Santhosh / Katsanis, Nicholas

    Current opinion in genetics & development

    2021  Volume 68, Page(s) 79–87

    Abstract: Genetic architecture predisposes regions of the human genome to copy-number variants, which confer substantial disease risk, most prominently towards neurodevelopmental disorders. These variants typically contain multiple genes and are often associated ... ...

    Abstract Genetic architecture predisposes regions of the human genome to copy-number variants, which confer substantial disease risk, most prominently towards neurodevelopmental disorders. These variants typically contain multiple genes and are often associated with extensive pleiotropy and variable phenotypic expressivity. Despite the expansion of the fidelity of CNV detection, and the study of such lesions at the population level, understanding causal mechanisms for CNV phenotypes will require biological testing of constituent genes and their interactions. In this regard, model systems amenable to high-throughput phenotypic analysis of dosage-sensitive genes (and combinations thereof) are beginning to offer improved granularity of CNV-driven pathology. Here, we review the utility of Drosophila and zebrafish models for pathogenic CNV regions, highlight the advances made in discovery of single gene drivers and genetic interactions that determine specific CNV phenotypes, and argue for their validity in dissecting conserved developmental mechanisms associated with CNVs.
    MeSH term(s) Animals ; DNA Copy Number Variations ; Disease Models, Animal ; Drosophila/genetics ; Gene Dosage ; Genetic Association Studies ; Genetic Predisposition to Disease ; High-Throughput Screening Assays ; Humans ; Neurodevelopmental Disorders/genetics ; Zebrafish/genetics
    Language English
    Publishing date 2021-03-31
    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.2021.02.013
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  5. Article: The continuum of causality in human genetic disorders

    Katsanis, Nicholas

    Genome biology. 2016 Dec., v. 17, no. 1

    2016  

    Abstract: Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on ... ...

    Abstract Studies of human genetic disorders have traditionally followed a reductionist paradigm. Traits are defined as Mendelian or complex based on family pedigree and population data, whereas alleles are deemed rare, common, benign, or deleterious based on their population frequencies. The availability of exome and genome data, as well as gene and allele discovery for various conditions, is beginning to challenge classic definitions of genetic causality. Here, I discuss recent advances in our understanding of the overlap between rare and complex diseases and the context-dependent effect of both rare and common alleles that underscores the need for revising the traditional categorizations of genetic traits.
    Keywords alleles ; genetic disorders ; genetic traits ; humans ; pedigree
    Language English
    Dates of publication 2016-12
    Size p. 233.
    Publishing place BioMed Central
    Document type Article
    ZDB-ID 2040529-7
    ISSN 1474-760X ; 1465-6906
    ISSN (online) 1474-760X
    ISSN 1465-6906
    DOI 10.1186/s13059-016-1107-9
    Database NAL-Catalogue (AGRICOLA)

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  6. Article ; Online: Mitochondrial Copy Number as a Biomarker for Autism?

    Golzio, Christelle / Katsanis, Nicholas

    Pediatrics

    2016  Volume 137, Issue 4

    MeSH term(s) Autistic Disorder ; Biomarkers ; Humans
    Chemical Substances Biomarkers
    Language English
    Publishing date 2016-03-31
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 207677-9
    ISSN 1098-4275 ; 0031-4005
    ISSN (online) 1098-4275
    ISSN 0031-4005
    DOI 10.1542/peds.2016-0049
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    Zs.MO 357: Show issues

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  7. Article: Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation.

    Mooney, Marie R / Davis, Erica E / Katsanis, Nicholas

    Frontiers in genetics

    2019  Volume 10, Page(s) 949

    Abstract: Therapeutic applications of CRISPR-Cas9 gene editing have spurred innovation in Cas9 enzyme engineering and single guide RNA (sgRNA) design algorithms to minimize potential off-target events. While recent work in rodents outlines favorable conditions for ...

    Abstract Therapeutic applications of CRISPR-Cas9 gene editing have spurred innovation in Cas9 enzyme engineering and single guide RNA (sgRNA) design algorithms to minimize potential off-target events. While recent work in rodents outlines favorable conditions for specific editing and uses a trio design (mother, father, offspring) to control for the contribution of natural genome variation, the potential for CRISPR-Cas9 to induce
    Language English
    Publishing date 2019-10-11
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2019.00949
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  8. Article ; Online: Molecular genetic testing and the future of clinical genomics.

    Katsanis, Sara Huston / Katsanis, Nicholas

    Nature reviews. Genetics

    2013  Volume 14, Issue 6, Page(s) 415–426

    Abstract: Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how ... ...

    Abstract Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.
    MeSH term(s) Animals ; Evaluation Studies as Topic ; Genetic Testing/economics ; Genetic Testing/ethics ; Genetic Testing/legislation & jurisprudence ; Genetic Testing/standards ; Genome-Wide Association Study ; Genomics ; Humans ; Karyotyping ; Molecular Diagnostic Techniques/economics ; Molecular Diagnostic Techniques/ethics ; Molecular Diagnostic Techniques/standards ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; United States
    Language English
    Publishing date 2013-05-16
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2035157-4
    ISSN 1471-0064 ; 1471-0056
    ISSN (online) 1471-0064
    ISSN 1471-0056
    DOI 10.1038/nrg3493
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  9. Article ; Online: From association to causality: the new frontier for complex traits.

    Katsanis, Nicholas

    Genome medicine

    2009  Volume 1, Issue 2, Page(s) 23

    Abstract: Technological and analytical advances have led to an unprecedented catalog of genomic regions associated with a broad range of clinically relevant phenotypes in humans. However, some examples notwithstanding, the causes of the overwhelming majority of ... ...

    Abstract Technological and analytical advances have led to an unprecedented catalog of genomic regions associated with a broad range of clinically relevant phenotypes in humans. However, some examples notwithstanding, the causes of the overwhelming majority of genetic diseases remain obscure. More importantly, an emerging lesson from genome-wide association studies is that, in most instances, the resolution necessary for identifying actual genes that underlie the phenotype is limited, as is our ability to develop mechanistic, testable disease models from such studies. These new realities will probably necessitate a paradigm shift in our approach to complex traits, for which the combinatorial application of genomic and functional studies will be necessary to understand the mechanism and pathology of genetic disease. Here I will discuss these issues and highlight how additional sequencing and genotyping of ever-increasing cohort sizes without functional interpretation is unlikely to improve our ability to dissect the genetic basis of complex traits.
    Language English
    Publishing date 2009-02-25
    Publishing country England
    Document type Journal Article
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/gm23
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: The Genetic Basis of Hydrocephalus.

    Kousi, Maria / Katsanis, Nicholas

    Annual review of neuroscience

    2016  Volume 39, Page(s) 409–435

    Abstract: Studies of syndromic hydrocephalus have led to the identification of >100 causative genes. Even though this work has illuminated numerous pathways associated with hydrocephalus, it has also highlighted the fact that the genetics underlying this phenotype ...

    Abstract Studies of syndromic hydrocephalus have led to the identification of >100 causative genes. Even though this work has illuminated numerous pathways associated with hydrocephalus, it has also highlighted the fact that the genetics underlying this phenotype are more complex than anticipated originally. Mendelian forms of hydrocephalus account for a small fraction of the genetic burden, with clear evidence of background-dependent effects of alleles on penetrance and expressivity of driver mutations in key developmental and homeostatic pathways. Here, we synthesize the currently implicated genes and inheritance paradigms underlying hydrocephalus, grouping causal loci into functional modules that affect discrete, albeit partially overlapping, cellular processes. These in turn have the potential to both inform pathomechanism and assist in the rational molecular classification of a clinically heterogeneous phenotype. Finally, we discuss conceptual methods that can lead to enhanced gene identification and dissection of disease basis, knowledge that will potentially form a foundation for the design of future therapeutics.
    Language English
    Publishing date 2016-07-08
    Publishing country United States
    Document type Journal Article
    ZDB-ID 282459-0
    ISSN 1545-4126 ; 0147-006X
    ISSN (online) 1545-4126
    ISSN 0147-006X
    DOI 10.1146/annurev-neuro-070815-014023
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