Harvard Catalyst Profiles

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

Michael Edward Talkowski, Ph.D.

Co-Author

This page shows the publications co-authored by Michael Talkowski and Cynthia Morton.
Connection Strength

3.642
  1. 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: 0.537
  2. SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. Am J Hum Genet. 2020 01 02; 106(1):41-57.
    View in: PubMed
    Score: 0.219
  3. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet. 2018 03; 26(3):374-381.
    View in: PubMed
    Score: 0.191
  4. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017 Aug 03; 101(2):206-217.
    View in: PubMed
    Score: 0.185
  5. 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: 0.183
  6. 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: 0.178
  7. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.
    View in: PubMed
    Score: 0.176
  8. 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
  9. 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
  10. 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: 0.148
  11. Mechanisms for Structural Variation in the Human Genome. Curr Genet Med Rep. 2013 Jun 01; 1(2):81-90.
    View in: PubMed
    Score: 0.139
  12. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79.
    View in: PubMed
    Score: 0.138
  13. 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: 0.136
  14. 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: 0.134
  15. 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: 0.134
  16. 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
  17. 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: 0.127
  18. 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: 0.124
  19. 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: 0.120
  20. Cover Image, Volume 173A, Number 2, February 2017. Am J Med Genet A. 2017 Feb; 173(2):i.
    View in: PubMed
    Score: 0.045
  21. Implication of LRRC4C and DPP6 in neurodevelopmental disorders. . 2017 Feb; 173(2):395-406.
    View in: PubMed
    Score: 0.044
  22. 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
  23. Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing. Prenat Diagn. 2015 Mar; 35(3):299-301.
    View in: PubMed
    Score: 0.039
  24. 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
  25. 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: 0.033
  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. 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
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.