Connection

Co-Authors

This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and SAU WAI CHEUNG.
Connection Strength

0.531
  1. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76.
    View in: PubMed
    Score: 0.105
  2. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
    View in: PubMed
    Score: 0.094
  3. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86.
    View in: PubMed
    Score: 0.093
  4. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87.
    View in: PubMed
    Score: 0.028
  5. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
    View in: PubMed
    Score: 0.025
  6. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
    View in: PubMed
    Score: 0.025
  7. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
    View in: PubMed
    Score: 0.023
  8. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77.
    View in: PubMed
    Score: 0.021
  9. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33.
    View in: PubMed
    Score: 0.021
  10. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602.
    View in: PubMed
    Score: 0.021
  11. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
    View in: PubMed
    Score: 0.021
  12. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
    View in: PubMed
    Score: 0.019
  13. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
    View in: PubMed
    Score: 0.018
  14. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35.
    View in: PubMed
    Score: 0.016
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.