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JAMES LUPSKI, MD., PHD

MD., PHD

Pediatrics Physician

NPI: 1467532861Individual

Specialties, Licenses & Credentials

Clinical Genetics (M.D.) Physician

Medical Genetics — Clinical Genetics (M.D.)

Code: 207SG0201X

H5185(TX)
Pediatrics PhysicianPrimary

Pediatrics

Code: 208000000X

H5185(TX)

Research & Publications (20)

Genomic disorders ten years on.
PMID 19439022·Genome Med·2009
8-other
Allan Award Introduction: Arthur L. Beaudet.
PMID 18610510·Am J Hum Genet·2008
8-other
An evolution revolution provides further revelation.
PMID 18008371·Bioessays·2007
7-preclinical
Genomic rearrangements and sporadic disease.
PMID 17597781·Nat Genet·2007
6-review
Structural variation in the human genome.
PMID 17360997·N Engl J Med·2007
8-other
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
PMID 16444292·PLoS Genet·2005
6-review
Hotspots of homologous recombination in the human genome: not all homologous sequences are equal.
PMID 15461806·Genome Biol·2004
6-review
2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.
PMID 12596790·Am J Hum Genet·2003
8-other
Recessive Charcot-Marie-tooth disease.
PMID 10632095·Ann Neurol·2000
8-other
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
PMID 19584063·J Med Genet·2009
8-other
Mechanisms of change in gene copy number.
PMID 19597530·Nat Rev Genet·2009
6-review
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
PMID 19290556·Neurogenetics·2009
7-preclinical
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
PMID 19557438·Hum Genet·2009
5-case
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
PMID 19324899·Hum Mol Genet·2009
8-other
Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
PMID 19324990·J Mol Diagn·2009
8-other
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
PMID 19543269·Nat Genet·2009
8-other
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
PMID 19293338·Hum Mol Genet·2009
8-other
Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.
PMID 19627867·PM R·2009
6-review
Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.
PMID 19627868·PM R·2009
6-review
Complex human chromosomal and genomic rearrangements.
PMID 19560228·Trends Genet·2009
6-review

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

Contact & Hours

Address
6701 FANNIN ST
HOUSTON, TX 77030

Location

Practice Location

6701 FANNIN ST, HOUSTON, TX
(832) 822-4280

Quick Facts

NPI
1467532861
Entity Type
Individual
Gender
Male
Medicare
Not confirmed
Specialties
2
Locations
1
Publications
20

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