Back to Search
JEFF MILUNSKY, M.D.
M.D.
NPI: 1316916372Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
80918(MA)
Research & Publications (20)
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.
PMID 14986831·Clin Genet·2003
4-observational
XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease.
PMID 12791042·Clin Genet·2003
8-other
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.
PMID 12503101·Am J Med Genet A·2003
5-case
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
PMID 11343322·Am J Med Genet·2001
8-other
Prenatal molecular diagnosis of tuberous sclerosis complex.
PMID 19254590·Am J Obstet Gynecol·2009
8-other
Further delineation of the critical region for the 9p-duplication syndrome.
PMID 19161157·Am J Med Genet A·2009
5-case
A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.
PMID 18336587·Clin Genet·2008
8-other
Autism spectrum disorders: clinical and research frontiers.
PMID 18305076·Arch Dis Child·2008
6-review
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
PMID 18000912·Am J Med Genet A·2007
5-case
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
PMID 17606542·Pediatrics·2007
8-other
Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis.
PMID 16491010·Fetal Diagn Ther·2006
3-trial
Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.
PMID 17253933·Genet Test·2006
5-case
Autosomal dominant syndrome resembling Coffin-Siris syndrome.
PMID 16691594·Am J Med Genet A·2006
5-case
Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
PMID 16516886·Exp Mol Pathol·2006
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 840 MEMORIAL DR, SUITE 101
CAMBRIDGE, MA 02139 - Phone
- (617) 492-7083
Quick Facts
- NPI
- 1316916372
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
Are you this provider?
Claim Your Profile