Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region

(2021) R. A. Zinchenko et al.   RUSSIAN JOURNAL OF GENETICS

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

(2020) Rena A. Zinchenko et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Analysis of genotype–phenotype correlations in PAX6-associated aniridia

(2020) Tatyana A. Vasilyeva et al.   JOURNAL OF MEDICAL GENETICS

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

(2019) N. V. Petrova et al.   BMC Medical Genetics

The burden of rare diseases

(2019) Carlos R. Ferreira   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome

(2019) Andrey V Marakhonov et al.   HUMAN MOLECULAR GENETICS

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

(2019) Stéphanie Nguengang Wakap et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic

(2019) R. A. Zinchenko et al.   RUSSIAN JOURNAL OF GENETICS

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients

(2019) O. A. Shchagina et al.   MOLECULAR BIOLOGY REPORTS

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

(2018) Andrey V. Marakhonov et al.   BMC Medical Genomics

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus

(2018) Polina Gundorova et al.   PLoS One

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation

(2018) Nika V. Petrova et al.   CLINICAL GENETICS

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

(2016) N.V. Petrova et al.   Journal of Cystic Fibrosis

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

(2016) Nikolay V. Zernov et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

(2016) T. V. Andreeva et al.   Scientific Reports

Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group

(2015) Trevor Richter et al.   VALUE IN HEALTH

Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development

(2014) Anne R. Pariser et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

(2009) Elena A Bliznetz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS