Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine

Medical Genetics

Dr. Wojciech K. Wiszniewski, MD

Doctor Wojciech K. Wiszniewski, MD practices Medical Genetics. He attended Baylor College of Medicine. Doctor Wojciech K. Wiszniewski, MD is also published. He has 38 publications published. The lastest publication: "Genetic and molecular definition of complementation group D in MHC class II deficiency.'

Publications

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
FBN1 contributing to familial congenital diaphragmatic hernia.
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function.
NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability.
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.
[Analysis of hearing impairment causes in molecular diagnosis of deafness].
High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.
Mutation in the class II trans-activator leading to a mild immunodeficiency.
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
[Molecular diagnosis of inherited disease].
[Neurofibromatosis type 2 (NF2)--classical example of a rare familial cancer syndrome].
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.
Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.
Genetic and molecular definition of complementation group D in MHC class II deficiency.
Defective class II transactivator expression in a B lymphoma cell line.
[Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy].
[The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss].
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.
Whole-genome sequencing for optimized patient management.
Genomic medicine and neurological disease.
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
GJB2 mutations and degree of hearing loss: a multicenter study.
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).
[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Evolution of ABCA4 proteins in vertebrates.

Doctors Specialties

Clinical Genetics
Medical Genetics

Accepted Insurances

Education

Baylor College of Medicine
Medical University of Warsaw

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