Co-Authors
This is a "connection" page, showing publications co-authored by CHRISTOPHER GROCHOWSKI and DAVUT PEHLIVAN.
Connection Strength
1.530
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.241
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Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03.
Score: 0.230
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
Score: 0.200
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.171
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Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1616.
Score: 0.062
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
Score: 0.059
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Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
Score: 0.058
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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2023 May; 25(5):100799.
Score: 0.055
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.055
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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2022 10; 24(10):2187-2193.
Score: 0.053
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
Score: 0.053
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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. HGG Adv. 2022 Oct 13; 3(4):100132.
Score: 0.053
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.052
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Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Eur J Med Genet. 2021 Dec; 64(12):104367.
Score: 0.050
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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
Score: 0.048
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Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104.
Score: 0.047
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
Score: 0.044