Heather E. McDermid

Research interests

Publications

• The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

  Molecular Syndromology · 2011 · https://doi.org/10.1159/000334260

• Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

  European Journal of Human Genetics · 2008 · 10.1038/ejhg.2008.107

• CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L

  Human Molecular Genetics · 2005 · 10.1093/hmg/ddi048

• Phylogenetic Analysis Reveals a Novel Protein Family Closely Related to Adenosine Deaminase

  Journal of Molecular Evolution · 2005 · 10.1007/s00239-005-0046-y

• Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome

  The American Journal of Human Genetics · 2005 · 10.1086/429841

• Genomic Disorders on 22q11

  The American Journal of Human Genetics · 2002 · https://doi.org/10.1086/340363

• Requirement of CHROMOMETHYLASE3 for Maintenance of CpXpG Methylation

  · 2001

• 22q13 deletion syndrome

  American Journal of Medical Genetics · 2001 · https://doi.org/10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c

• Analysis of the Cat Eye Syndrome Critical Region in Humans and the Region of Conserved Synteny in Mice: A Search for Candidate Genes at or near the Human Chromosome 22 Pericentromere

  Genome Research · 2001 · 10.1101/gr.154901

• The Human Homolog of Insect-Derived Growth Factor, CECR1, Is a Candidate Gene for Features of Cat Eye Syndrome

  Genomics · 2000 · 10.1006/geno.1999.6099

• Position effect of human telomeric repeats on replication timing

  Proceedings of the National Academy of Sciences · 1999 · 10.1073/pnas.96.20.11434

• Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

  Cytogenetic and Genome Research · 1998 · 10.1159/000015035

• Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.

  PubMed · 1997

• Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

  Journal of Medical Genetics · 1997 · 10.1136/jmg.34.8.640

• The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

  Nature Genetics · 1995 · https://doi.org/10.1038/ng0295-132

• Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

  PubMed · 1995

• Molecular characterization of the marker chromosome associated with cat eye syndrome.

  PubMed · 1994

• Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion

  American Journal of Medical Genetics · 1992 · 10.1002/ajmg.1320430524

• Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage

  Nature · 1987 · https://doi.org/10.1038/328528a0

• Isolation and characterization of an ?-satellite repeated sequence from human chromosome 22

  Chromosoma · 1986 · 10.1007/bf00288497

• Characterization of the Supernumerary Chromosome in Cat Eye Syndrome

  Science · 1986 · 10.1126/science.3961499

Current projects

No projects listed.