Co-Director, Center for Human Genetics
Medical Genetics
Dr. Jeff M. Milunsky, MD
|
|
Give Review
Jeff M. Milunsky, MD works in the field of Medical Genetics. He graduated from Boston University School of Medicine. Boston University School of Medicine has a rank of 30 in research and a 52 in primary care Dr. Jeff M. Milunsky has written publications. He has 78 publications published with PubMed. The lastest paper is: 'Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes).' He is registered with Medicare.
Publications
- Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
- A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
- Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.
- De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism.
- Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
- Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray.
- Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.
- A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
- A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.
- A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.
- Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation.
- A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.
- Prenatal molecular diagnosis of tuberous sclerosis complex.
- Further delineation of the critical region for the 9p-duplication syndrome.
- TFAP2A mutations result in branchio-oculo-facial syndrome.
- Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
- Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
- Autosomal dominant syndrome resembling Coffin-Siris syndrome.
- 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.
- Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.
- Constitutional partial 1q trisomy mosaicism and Wilms tumor.
- Adult-onset neuronal ceroid lipofuscinosis type B in an African-American.
- Fragile X carrier screening and spinocerebellar ataxia in older males.
- Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mut...
- Connexin-30 deletion analysis in connexin-26 heterozygotes.
- Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, t...
- The syndrome of hypoparathyroidism, deafness, and renal anomalies.
- Preserved proinsulin production in homozygous protein tyrosine phosphatase nonreceptor type 22 C1858T variant type 1 diabetes: a possible explanation for absence of ov...
- Clinical genetic testing for patients with autism spectrum disorders.
- Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis.
- Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.
- Delineation of a supernumerary marker chromosome utilizing a multimodal approach of G-banding, fluorescent in situ hybridization, confirmatory P1 artificial chromosome...
- LADD syndrome is caused by FGF10 mutations.
- The value of MLPA in Waardenburg syndrome.
- A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.
- Autism spectrum disorders: clinical and research frontiers.
- XL PCR for the detection of large trinucleotide expansions in juvenile Huntington''s disease.
- Cerebro-oculo-facial-lymphatic syndrome.
- Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.
- An unstable dicentric Robertsonian translocation in a markedly discordant twin.
- Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.
- Emerging phenotype of duplication (7p): a report of three cases and review of the literature.
- Mutation analysis in Rett syndrome.
- Highly polymorphic short tandem repeat analyses clarify complex molecular test results.
- Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region.
- Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
- Kabuki syndrome in a Haitian patient.
- Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome.
- Connexin-26 gene analysis in hearing-impaired newborns.
- Agenesis or hypoplasia of major salivary and lacrimal glands.
- Breast-feeding during colchicine therapy for familial Mediterranean fever.
- Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.
- A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.
- Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy with linked DNA probes.
- Cytogenetic studies of an adrenal cortical carcinoma.
- Renal tubular dysgenesis with microcephaly.
- Genetic counseling in perinatal medicine.
- Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant.
- Familial supernumerary chromosome and malignancy.
- Case report: cystic fibrosis and embryonal carcinoma of the testis.
- Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes.
- Tandem duplication/deletion in a maternally derived chromosome 9 supernumerary derivative resulting in 9p trisomy and partial 9q tetrasomy.
- Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
- Prenatal diagnosis of spinal muscular atrophy by direct molecular analysis: efficacy and potential pitfalls.
- A locus for autosomal recessive achromatopsia on human chromosome 8q.
- Schizophrenia susceptibility gene locus at Xp22.3.
- Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination.
- Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome.
- Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations.
- Evidence for genetic heterogeneity of the Carney complex (familial atrial myxoma syndromes).
- Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.
- Use of conformation sensitive gel electrophoresis to detect single-base changes in the gene for COL10A1.
- Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.
- Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.
- Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations.
- L2, a DNA fragment from Xq24-q27, detects an EcoR1 RFLP (HGM9 no. DXS12).
- The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?
Schools
Boston University School Of Medicine
Boston Floating Hospital New Eng Med Center
Boston University
Doctors Specialties
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
-
Boston University Medical Center -
Tufts Medical Center -
Boston University School of Medicine
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1316916372 |
| Last Name Of The Provider | MILUNSKY |
| First Name Of The Provider | JEFF |
| View All |
Similar Doctors
|
|
Dr. Dwight Cordero, MD
 This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Pearl S. Riney, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Aubrey Milunsky, MD
This Doctor is OpenDoctor Recommended.
 This doctor has more publications
|
|
|
Dr. Polakit Teekakirikul, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Thomas E. Mullen, PHD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Matthew S. Lebo, PHD |
|
|
Dr. Victoria A. Joshi, PHD |
|
|
Dr. Birgit Funke, PHD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Heidi L. Rehm, PHD |
|
|
Dr. Ellen S. Sigman, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Alan F. Meyers, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Susan E. Holzman, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Gopal K. Gupta, MD
This Doctor is OpenDoctor Recommended.
|