JEFFREY MILUNSKY

Summary

Affiliation: Boston University
Country: USA

Publications

  1. doi request reprint Genotype-phenotype analysis of the branchio-oculo-facial syndrome
    Jeff M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118, USA
    Am J Med Genet A 155:22-32. 2011
  2. ncbi request reprint LADD syndrome is caused by FGF10 mutations
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA
    Clin Genet 69:349-54. 2006
  3. ncbi request reprint Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 64:509-16. 2003
  4. ncbi request reprint Cerebro-oculo-facial-lymphatic syndrome
    J M Milunsky
    Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Massachusetts 02118, USA
    Clin Genet 63:291-6. 2003
  5. ncbi request reprint 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
    Jeff M Milunsky
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Am J Med Genet A 116:249-54. 2003
  6. pmc TFAP2A mutations result in branchio-oculo-facial syndrome
    Jeff M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118 2526, USA
    Am J Hum Genet 82:1171-7. 2008
  7. ncbi request reprint Mutation analysis in Rett syndrome
    J M Milunsky
    Center for Human Genetics and the Department of Pediatrics, Boston University School of Medicine, Boston, MA 02118, USA
    Genet Test 5:321-5. 2001
  8. ncbi request reprint The value of MLPA in Waardenburg syndrome
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
    Genet Test 11:179-82. 2007
  9. ncbi request reprint Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins
    J Milunsky
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Mass 07118 7394, USA
    Fetal Diagn Ther 13:167-8. 1998
  10. ncbi request reprint Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
    J M Milunsky
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Am J Med Genet 100:311-4. 2001

Research Grants

  1. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
  2. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006

Detail Information

Publications19

  1. doi request reprint Genotype-phenotype analysis of the branchio-oculo-facial syndrome
    Jeff M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118, USA
    Am J Med Genet A 155:22-32. 2011
    ..Clinical testing for TFAP2A mutations is now available and will assist geneticists in confirming the typical cases or excluding the diagnosis in atypical cases...
  2. ncbi request reprint LADD syndrome is caused by FGF10 mutations
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA
    Clin Genet 69:349-54. 2006
    ..We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations...
  3. ncbi request reprint Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 64:509-16. 2003
    ..1. As the six patients with KS represent different races, this duplication may represent a common etiologic basis for this disorder...
  4. ncbi request reprint Cerebro-oculo-facial-lymphatic syndrome
    J M Milunsky
    Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Massachusetts 02118, USA
    Clin Genet 63:291-6. 2003
    ..We propose the syndromic appellation of cerebro-oculo-facial-lymphatic syndrome, suggest cardinal diagnostic features, and discuss several possible overlapping syndromic diagnoses...
  5. ncbi request reprint 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
    Jeff M Milunsky
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Am J Med Genet A 116:249-54. 2003
    ..The mild maternal phenotype has been described previously. However, this nonmosaic missense mutation has resulted in a severe phenotype in her surviving son...
  6. pmc TFAP2A mutations result in branchio-oculo-facial syndrome
    Jeff M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118 2526, USA
    Am J Hum Genet 82:1171-7. 2008
    ..We conclude BOFS is caused by mutations involving TFAP2A. More patients need to be studied to determine possible genetic heterogeneity and to establish whether there are genotype-phenotype correlations...
  7. ncbi request reprint Mutation analysis in Rett syndrome
    J M Milunsky
    Center for Human Genetics and the Department of Pediatrics, Boston University School of Medicine, Boston, MA 02118, USA
    Genet Test 5:321-5. 2001
    ..Analysis of common mutations before sequencing the entire gene is anticipated to be the most efficacious strategy to identify Rett syndrome gene mutations...
  8. ncbi request reprint The value of MLPA in Waardenburg syndrome
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
    Genet Test 11:179-82. 2007
    ....
  9. ncbi request reprint Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins
    J Milunsky
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Mass 07118 7394, USA
    Fetal Diagn Ther 13:167-8. 1998
    ..This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations...
  10. ncbi request reprint Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
    J M Milunsky
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    Am J Med Genet 100:311-4. 2001
    ..Molecular analysis is now available and recommended for presymptomatic diagnosis in those at-risk individuals and for confirmatory diagnosis in those having PGL...
  11. ncbi request reprint Connexin-26 gene analysis in hearing-impaired newborns
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, MA 02118, USA
    Genet Test 4:345-9. 2000
    ..Molecular analysis of hearing-impaired newborns will be important for genetic counseling in these families. Failures with Guthrie cards may make use of other collection methods preferable...
  12. ncbi request reprint Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfalls
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, MA 02118, USA
    Genet Test 3:255-8. 1999
    ..However, maternal cell contamination of CVS samples can confound these analyses, and the possibility of contamination must be excluded routinely...
  13. ncbi request reprint Schizophrenia susceptibility gene locus at Xp22.3
    J Milunsky
    Center for Human Genetics, and Department of Pediatrics, Boston University School of Medicine, MA 02118, USA
    Clin Genet 55:455-60. 1999
    ..Hence, the deletion within Xp22.3 almost certainly contains a gene involved in the pathogenesis of paranoid schizophrenia...
  14. ncbi request reprint Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome fluorescent in situ hybridization, and high-resolution comparative genomic hybridizatio
    H F L Mark
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 68:146-51. 2005
    ..The paternal translocation is noted with prolonged infertility and oligospermia, which again highlights the utility and necessity of chromosome analysis in this setting...
  15. ncbi request reprint XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease
    J M Milunsky
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 64:70-3. 2003
    ..Without this innovation we would not have been able to demonstrate the large CAG expansion. This assay could become part of a standard protocol for HD testing in molecular diagnostic laboratories...
  16. ncbi request reprint Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region
    R V Lebo
    Center for Human Genetics, Boston University School of Medicine, 715 Albany St, Boston, MA 02118 2526, USA
    Clin Genet 59:406-17. 2001
    ..Although prone to disease-causing deletion, this region is unique in humans and highly conserved among mammals for the last 75 000 000 years to maintain the MECP2 gene's critical function...
  17. ncbi request reprint Highly polymorphic short tandem repeat analyses clarify complex molecular test results
    R V Lebo
    Center for Human Genetics, Department of Pediatric, Boston University School of Medicine, MA 02118 2526, USA
    Diagn Mol Pathol 10:179-89. 2001
    ....
  18. ncbi request reprint An unstable dicentric Robertsonian translocation in a markedly discordant twin
    R V Lebo
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, Boston, MA, USA
    Clin Genet 62:383-9. 2002
    ..Selection against unbalanced mitotic products of the unstable, functionally dicentric chromosome in early fetal development is proposed to result in Twin B's highly discordant small birth size...
  19. ncbi request reprint A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90
    J C Skare
    Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, MA
    Clin Genet 39:6-12. 1991
    ..The discovery of this mutation suggests that intermolecular binding between hydrophobic polypeptide loops on the surface of transthyretin can lead to familial amyloidotic polyneuropathy...

Research Grants4

  1. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
    ..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
  2. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
    ..Further investigation into the etiology of KS and related phenotypes with identification of specific responsible genes will increase our understanding of human growth, mental development, and hearing loss. ..