Connection

Co-Authors

This is a "connection" page, showing publications co-authored by JENNIFER POSEY and DONNA MUZNY.
Connection Strength

2.074
  1. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812.
    View in: PubMed
    Score: 0.166
  2. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31.
    View in: PubMed
    Score: 0.143
  3. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
    View in: PubMed
    Score: 0.133
  4. VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data. bioRxiv. 2024 Oct 29.
    View in: PubMed
    Score: 0.062
  5. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
    View in: PubMed
    Score: 0.059
  6. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
    View in: PubMed
    Score: 0.059
  7. The impact of the Turkish population variome on the genomic architecture of rare disease traits. Genet Med Open. 2024; 2:101830.
    View in: PubMed
    Score: 0.059
  8. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188.
    View in: PubMed
    Score: 0.055
  9. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
    View in: PubMed
    Score: 0.055
  10. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
    View in: PubMed
    Score: 0.054
  11. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
    View in: PubMed
    Score: 0.053
  12. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 Jan 13; 3(1):100074.
    View in: PubMed
    Score: 0.051
  13. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
    View in: PubMed
    Score: 0.050
  14. Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 11; 22(7):960-968.
    View in: PubMed
    Score: 0.050
  15. 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.
    View in: PubMed
    Score: 0.047
  16. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet. 2020 Oct; 6(5):e498.
    View in: PubMed
    Score: 0.046
  17. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776.
    View in: PubMed
    Score: 0.046
  18. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
    View in: PubMed
    Score: 0.045
  19. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus. 2020 Mar; 4(3):e10335.
    View in: PubMed
    Score: 0.044
  20. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
    View in: PubMed
    Score: 0.044
  21. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986.
    View in: PubMed
    Score: 0.044
  22. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 08 01; 104(8):3049-3067.
    View in: PubMed
    Score: 0.043
  23. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
    View in: PubMed
    Score: 0.043
  24. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
    View in: PubMed
    Score: 0.043
  25. 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.
    View in: PubMed
    Score: 0.043
  26. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
    View in: PubMed
    Score: 0.042
  27. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 03 25; 11(1):16.
    View in: PubMed
    Score: 0.042
  28. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
    View in: PubMed
    Score: 0.042
  29. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285.
    View in: PubMed
    Score: 0.040
  30. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703.
    View in: PubMed
    Score: 0.040
  31. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075.
    View in: PubMed
    Score: 0.040
  32. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet. 2018 Dec; 7(4):164-173.
    View in: PubMed
    Score: 0.040
  33. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
    View in: PubMed
    Score: 0.039
  34. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
    View in: PubMed
    Score: 0.039
  35. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
    View in: PubMed
    Score: 0.037
  36. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
    View in: PubMed
    Score: 0.035
  37. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42.
    View in: PubMed
    Score: 0.035
  38. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
    View in: PubMed
    Score: 0.034
  39. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94.
    View in: PubMed
    Score: 0.033
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.