List of works - Renata Posmyk

Analysis of chosen SNVs in GPC5, CD58 and IRF8 genes in multiple sclerosis patients

scientific article published on 26 February 2019

Association between polymorphisms of a folate - homocysteine - methionine - SAM metabolising enzyme gene and multiple sclerosis in a Polish population

scientific article published on 30 May 2019

Breast cancer in an 18-year-old female: A fatal case report and literature review

scientific article published on 01 July 2018

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

scientific article published on 01 February 2020

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

scientific article (publication date: September 2014)

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Expression of the energy substrate transporters in uterine fibroids

scientific article

Frequency of thrombophilia associated genes variants: population-based study

scientific article published on 09 October 2020

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

scientific article published on 11 November 2014

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

scientific article published on 16 March 2010

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

scientific article

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

scientific article published on 04 July 2019

Mutations in ZBTB20 cause Primrose syndrome

scientific article

New case of Primrose syndrome with mild intellectual disability

scientific article published on 09 September 2011

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

scientific article published on 09 April 2016

Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area

scientific article published on 24 December 2020

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

scientific article published on 16 March 2015

Primrose Syndrome: characterization of the phenotype in 42 patients

scientific article published on 08 April 2020

Salivary Gland Function, Antioxidant Defence and Oxidative Damage in the Saliva of Patients with Breast Cancer: Does the BRCA1 Mutation Disturb the Salivary Redox Profile?

scientific article published on 08 October 2019

Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

scientific article published on 11 November 2020

The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor

scientific article published on 18 September 2018

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor

scientific article published on 05 November 2019

The natural history of Möbius syndrome in a 32-year-old man ⬇️

scientific article published on 01 January 2011

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities

scientific article published on 23 January 2014

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

scientific article published on 26 September 2016

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

scientific article published on 08 July 2011

List of works by Renata Posmyk

Analysis of chosen SNVs in GPC5, CD58 and IRF8 genes in multiple sclerosis patients

Association between polymorphisms of a folate - homocysteine - methionine - SAM metabolising enzyme gene and multiple sclerosis in a Polish population

Breast cancer in an 18-year-old female: A fatal case report and literature review

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Expression of the energy substrate transporters in uterine fibroids

Frequency of thrombophilia associated genes variants: population-based study

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects

Mutations in ZBTB20 cause Primrose syndrome

New case of Primrose syndrome with mild intellectual disability

PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Primrose Syndrome: characterization of the phenotype in 42 patients

Salivary Gland Function, Antioxidant Defence and Oxidative Damage in the Saliva of Patients with Breast Cancer: Does the BRCA1 Mutation Disturb the Salivary Redox Profile?

Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

The FOXP3 rs3761547 Gene Polymorphism in Multiple Sclerosis as a Male-Specific Risk Factor

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor

The natural history of Möbius syndrome in a 32-year-old man ⬇️

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter