Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic

SY Lim, AH Tan, A Ahmad-Annuar… - The Lancet …, 2024 - thelancet.com
Knowledge on the genetic basis of Parkinson's disease has grown tremendously since the
discovery of the first monogenic form, caused by a mutation in α-synuclein, and with the …

WGS data collections: how do genomic databases transform medicine?

ZJ Król, P Dobosz, A Ślubowska… - International Journal of …, 2023 - mdpi.com
As a scientific community we assumed that exome sequencing will elucidate the basis of
most heritable diseases. However, it turned out it was not the case; therefore, attention has …

[HTML][HTML] Whole-genome sequencing of 502 individuals from Latvia: the first step towards a population-specific reference of genetic variation

R Reščenko, M Brīvība, I Atava, V Rovīte… - International Journal of …, 2023 - mdpi.com
Despite rapid improvements in the accessibility of whole-genome sequencing (WGS),
understanding the extent of human genetic variation is limited by the scarce availability of …

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children

K Shchubelka, L Turova, W Wolfsberger… - Journal of …, 2024 - Springer
Background Global developmental delay or intellectual disability usually accompanies
various genetic disorders as a part of the syndrome, which may include seizures, autism …

Scientists without borders: lessons from Ukraine

W Wolfsberger, K Chhugani, K Shchubelka… - …, 2023 - academic.oup.com
Conflicts and natural disasters affect entire populations of the countries involved and, in
addition to the thousands of lives destroyed, have a substantial negative impact on the …

Predisposing deleterious variants in the cancer-associated human kinases in the global populations

SA Khan, M Anwar, A Gohar, MR Roosan, DC Hoessli… - Plos one, 2024 - journals.plos.org
Human kinases play essential and diverse roles in the cellular activities of maintaining
homeostasis and growth. Genetic mutations in the genes encoding the kinases (or …

[PDF][PDF] Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Njideka Ulunma Okubadejo, Katja Lohmann, Huw R Morris, Tzi Shin Toh, Yi Wen Tay, Lara M Lange …

R Ojha, AB Singleton, C Blauwendraat, C Klein - Lancet Neurol, 2024 - binasss.sa.cr
Knowledge on the genetic basis of Parkinson's disease has grown tremendously since the
discovery of the first monogenic form, caused by a mutation in α-synuclein, and with the …

ROUA Database: 300 Human Genomes from the border of Ukraine and Romania

K Shchubelka, WW Wolfsberger, OT Oleksyk… - bioRxiv, 2024 - biorxiv.org
We present a multi-layered data source (ROUA Database) providing the results of Whole
Genome Sequencing of two human populations in the Carpathian Mountains region …

Does Ukraine need a specific regulation related to the applying of genetic information for risk assessment in insurance?

M Arych, K Shchubelka, W Wolfsberger… - Finance of …, 2024 - finukr.com.ua
Introduction. The article examines the specifics and role of genetic information for insurance
risk assessment in the life insurance market in Ukraine. Problem Statement. The insurance …

Medically Relevant Genome Diversity in Ukraine

K Shchubelka - 2023 - search.proquest.com
Ukraine, the second-largest country in Europe, has a rich history characterized by
migrations, epidemics, famines, wars, and occupations, all of which have contributed to the …