Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Cynthia Casson Morton, Ph.D.

Co-Author

This page shows the publications co-authored by Cynthia Morton and James Gusella.
Connection Strength

2.354
  1. Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet. 2016 Nov 03; 99(5):1015-1033.
    View in: PubMed
    Score: 0.175
  2. Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. Eur J Hum Genet. 2016 11; 24(11):1622-1626.
    View in: PubMed
    Score: 0.172
  3. Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet. 2014 May 01; 94(5):695-709.
    View in: PubMed
    Score: 0.147
  4. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet. 2013 May; 132(5):537-52.
    View in: PubMed
    Score: 0.135
  5. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 06; 367(23):2226-32.
    View in: PubMed
    Score: 0.134
  6. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
    View in: PubMed
    Score: 0.130
  7. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37.
    View in: PubMed
    Score: 0.128
  8. Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011 Apr 08; 88(4):469-81.
    View in: PubMed
    Score: 0.119
  9. Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide. Int J Neuropsychopharmacol. 2010 May; 13(4):527-8.
    View in: PubMed
    Score: 0.108
  10. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22.
    View in: PubMed
    Score: 0.096
  11. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan; 82(1):199-207.
    View in: PubMed
    Score: 0.095
  12. Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 2007 Apr; 80(4):792-9.
    View in: PubMed
    Score: 0.090
  13. Candidate loci for Zimmermann-Laband syndrome at 3p14.3. . 2007 Jan 15; 143A(2):107-11.
    View in: PubMed
    Score: 0.089
  14. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
    View in: PubMed
    Score: 0.081
  15. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969.
    View in: PubMed
    Score: 0.046
  16. Cover Image, Volume 173A, Number 2, February 2017. Am J Med Genet A. 2017 Feb; 173(2):i.
    View in: PubMed
    Score: 0.045
  17. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
    View in: PubMed
    Score: 0.044
  18. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.
    View in: PubMed
    Score: 0.044
  19. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. . 2017 Feb; 173(2):395-406.
    View in: PubMed
    Score: 0.044
  20. Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. Hum Mol Genet. 2016 Apr 01; 25(7):1255-70.
    View in: PubMed
    Score: 0.042
  21. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89.
    View in: PubMed
    Score: 0.039
  22. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79.
    View in: PubMed
    Score: 0.034
  23. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013 Feb 07; 92(2):210-20.
    View in: PubMed
    Score: 0.034
  24. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 07; 91(6):1128-34.
    View in: PubMed
    Score: 0.034
  25. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec; 69(12):1238-46.
    View in: PubMed
    Score: 0.033
  26. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 2012 Apr; 33(4):728-40.
    View in: PubMed
    Score: 0.032
  27. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Mar 04; 44(4):390-7, S1.
    View in: PubMed
    Score: 0.032
  28. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 07; 89(4):551-63.
    View in: PubMed
    Score: 0.031
  29. The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet. 2012 Feb; 131(2):235-50.
    View in: PubMed
    Score: 0.030
  30. Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? . 2007 Aug 01; 143A(15):1796-8.
    View in: PubMed
    Score: 0.023
  31. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80.
    View in: PubMed
    Score: 0.023
  32. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32.
    View in: PubMed
    Score: 0.022
  33. Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72.
    View in: PubMed
    Score: 0.017
  34. Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. Am J Hum Genet. 1988 Oct; 43(4):511-9.
    View in: PubMed
    Score: 0.006
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.