Kristen Deak to Humans
This is a "connection" page, showing publications Kristen Deak has written about Humans.
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0.166
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Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution. J Mol Diagn. 2021 10; 23(10):1324-1333.
Score: 0.022
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Transfusion medicine illustrated: Mosaic Trisomy 9 in an infant with mixed-field ABO blood grouping. Transfusion. 2013 Sep; 53(9):1884.
Score: 0.013
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The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. Clin Lab Med. 2011 Dec; 31(4):543-64, viii.
Score: 0.011
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Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Res A Clin Mol Teratol. 2008 Oct; 82(10):662-9.
Score: 0.009
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Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 2007 Feb 20; 68(8):578-82.
Score: 0.008
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Clinical Utility of Copy Number Abnormality Analysis in the Evaluation of Melanocytic Lesions for Diagnosis and Prognosis: An Evidence-Based Review from the Cancer Genomics Consortium Working Group for Melanocytic Lesions. Genes (Basel). 2026 Mar 18; 17(3).
Score: 0.008
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Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2. Birth Defects Res A Clin Mol Teratol. 2005 Nov; 73(11):868-75.
Score: 0.007
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SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects. Hum Genet. 2005 Jul; 117(2-3):133-42.
Score: 0.007
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Blast Phase of Myeloproliferative Neoplasm Resembles Acute Myeloid Leukemia, Myelodysplasia-Related, in Clinical Presentation, Cytogenetic Pattern, and Genomic Profile, and Often Undergoes Reversion to Second Chronic Phase Status After Induction Chemotherapy. Arch Pathol Lab Med. 2024 12 01; 148(12):1310-1319.
Score: 0.007
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt. HGG Adv. 2024 07 18; 5(3):100288.
Score: 0.007
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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. Am J Med Genet A. 2023 11; 191(11):2757-2767.
Score: 0.006
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Chronic Lymphocytic Leukemia With Two B-Cell Populations of Discordant Light Chain Restrictions in Individual Patients: Parallel Development of Biclonal B-Cell Neoplasms or Clonal Evolution With Isotype Switch? Am J Clin Pathol. 2023 04 04; 159(4):337-351.
Score: 0.006
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Automated next-generation profiling of genomic alterations in human cancers. Nat Commun. 2022 05 20; 13(1):2830.
Score: 0.006
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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Mol Genet Genomic Med. 2021 07; 9(7):e1665.
Score: 0.005
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Acute myeloid leukemia arising from polycythemia vera underwent reversion to chronic phase of myeloproliferative neoplasm status post chemotherapy: Biclonal myeloid neoplasms with genomic evidence of a common early hematopoietic progenitor. Hematol Oncol. 2021 Apr; 39(2):254-257.
Score: 0.005
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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. Genet Med. 2020 07; 22(7):1269-1275.
Score: 0.005
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 07; 22(7):1133-1141.
Score: 0.005
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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Hum Mutat. 2020 03; 41(3):655-667.
Score: 0.005
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Pulmonary Granular Cell Tumors: A Study of 4 Cases Including a Malignant Phenotype. Am J Surg Pathol. 2019 10; 43(10):1397-1402.
Score: 0.005
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
Score: 0.004
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Composite lymphoma of follicular B-cell and peripheral T-cell types with distinct zone distribution in a 75-year-old male patient: a case study. Hum Pathol. 2018 06; 76:110-116.
Score: 0.004
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False positives in multiplex PCR-based next-generation sequencing have unique signatures. J Mol Diagn. 2014 Sep; 16(5):541-549.
Score: 0.003
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Banding pattern on polarized hair microscopic examination and unilateral polymicrogyria in a patient with steroid sulfatase deficiency. Arch Dermatol. 2012 Jan; 148(1):73-8.
Score: 0.003
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Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology. 2008 Nov 25; 71(22):1764-9.
Score: 0.002
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Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environ Health Perspect. 2006 Oct; 114(10):1547-52.
Score: 0.002