D. Šafka Brožková

发表

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

P. Seeman, F. Cihlář, A. Mészárosová, 2020, Clinical dysmorphology.

HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

P. Seeman, R. Mazanec, J. Haberlová, 2016, Clinical genetics.

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

S. Züchner, Michael A. Gonzalez, P. Seeman, 2016, Brain : a journal of neurology.

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

P. Seeman, R. Mazanec, I. Sakmaryová, 2013, neurogenetics.

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

M. Skopkova, D. Gašperíková, P. Seeman, 2020, Orphanet Journal of Rare Diseases.

Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases.

P. Seeman, L. Sedláčková, P. Laššuthová, 2020, Genetic testing and molecular biomarkers.

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing

P. Seeman, Z. Čada, J. Laštůvková, 2020, Clinical genetics.

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

P. Seeman, R. Mazanec, P. Laššuthová, 2016, Orphanet Journal of Rare Diseases.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

A. Ferbert, C. Rivolta, A. Antonellis, 2015, Brain : a journal of neurology.

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

P. Seeman, A. Mészárosová, D. Šafka Brožková, 2020, Neuroscience Letters.

Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene

P. Seeman, J. Plzák, R. Černý, 2019, European Archives of Oto-Rhino-Laryngology.

Demyelinating Charcot–Marie–Tooth neuropathy associated with FBLN5 mutations

S. Züchner, A. Kochański, P. Latour, 2020, European journal of neurology.

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

P. Seeman, P. Laššuthová, D. Gróh, 2016, International journal of pediatric otorhinolaryngology.

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

D. Gašperíková, P. Seeman, L. Varga, 2021, Genes.

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.

M. Trková, P. Seeman, J. Laštůvková, 2012, International journal of pediatric otorhinolaryngology.

DFNB49 is an important cause of non‐syndromic deafness in Czech Roma patients but not in the general Czech population

M. Trková, H. Štěpánková, P. Seeman, 2012, Clinical genetics.

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.

P. Seeman, D. Stejskal, P. Laššuthová, 2013, Brain : a journal of neurology.