Cristina Skrypnyk

Arabian Gulf University — BH

Biochemistry, Genetics and Molecular Biology · Life Sciences

10h-index574citations28works1.52yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genetics and Neurodevelopmental Disorders(5), Asthma and respiratory diseases(3), Metabolism and Genetic Disorders(3), Genomic variations and chromosomal abnormalities(3), Genomics and Rare Diseases(3)

Publications28 total

Expanding families: a pilot study on preconception expanded carrier screening in Bahrain
BMC Pregnancy and Childbirth·2024· 1 citedOpen Access
Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders
Frontiers in Genetics·2024· 2 citedOpen Access
Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome
Case Reports in Hepatology·2023· 5 citedOpen Access
Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy
Frontiers in Genetics·2023· 2 citedOpen Access
A novel bi‐allelic loss‐of‐function mutation in <scp> <i>STIM1</i> </scp> expands the phenotype of <scp>STIM1</scp> ‐related diseases
Clinical Genetics·2021· 7 cited
Author response for "A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases"
2021
Author response for "A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases"
2021Open Access
Author response for "A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases"
2021Open Access
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
Neurology Genetics·2021· 13 citedOpen Access
Novel phenotype in STIM1-related disorders including bones abnormalities and absence of immune defect
HAL (Le Centre pour la Communication Scientifique Directe)·2021Open Access
Hypertrophic Cardiomyopathy and Arrhythmias as Phenotype Spectrum of Emery Dreifuss Muscular Dystrophy: First Case Report in Bahrain
Journal of the Bahrain Medical Society·2021Open Access
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases
HAL (Le Centre pour la Communication Scientifique Directe)·2021· 1 citedOpen Access
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
The American Journal of Human Genetics·2019· 80 citedOpen Access
The Value of FLT3, NPM1 and DNMT3A Gene Mutation Analysis in Acute Myeloid Leukemia Diagnosis
Revista română de medicină de laborator·2019· 6 citedOpen Access
Current Management of Duchenne Muscular Dystrophy in the Middle East: Expert Report
Neurodegenerative Disease Management·2019· 20 citedOpen Access
Effects of Topiramate on Pregnancy Outcome in Rats
Bahrain Medical Bulletin·2016· 3 cited
Decreased expression of circulating microRNA-126 in patients with type 2 diabetic nephropathy: A potential blood-based biomarker
Experimental and Therapeutic Medicine·2016· 69 citedOpen Access
Exome Sequencing and the Management of Neurometabolic Disorders
New England Journal of Medicine·2016· 274 citedOpen Access
Among a panel of polymorphisms in genes related to oxidative stress, <i>CAT</i>-262 C&gt;T, <i>GPX1</i> Pro198Leu and <i>GSTP1</i> Ile105Val influence the risk of developing <i>BCR-ABL</i> negative myeloproliferative neoplasms
Hematology·2016· 11 citedOpen Access
Genome wide array analysis of patients with conotruncal heart defects in the Kingdom of Bahrain
日本人類遺伝学会大会プログラム・抄録集·2016
page 1 of 2Next →

Frequent Co-authors

André Mégarbané(7), Alexandra Salvi(6), Nathalie Da Silva(6), Valérie Delague(6), Marc Bartoli(6), Jon Andoni Urtizberea(5), Nicolas Lévy(5), Moiz Bakhiet(4), Catherine Robert(4), Ghada Al‐Kafaji(3), Oliver Bartsch(3), Maja Tarailo‐Graovac(2), Colin J.D. Ross(2), Britt I. Drögemöller(2), Leo A. J. Kluijtmans(2), Ron A. Wevers(2), Wyeth W. Wasserman(2), Clara D.M. van Karnebeek(2), Claudia Bănescu(2), Marius Bembea(2)