Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Debeljak · SciRah

Researcher profile · Semantic Scholar

M. Debeljak

Share profile

M. Debeljak — researcher profile on SciRah

h-index: 22
Works: 118
Citations: 1,668

Most-cited papers

Disease evolution and outcomes in familial AML with germline CEBPA mutations.
K. Tawana, Jun Wang, Aline Renneville, C. Bödör +37 more
2015Blood187 citations Open access
Semantic Scholar
Next-Generation Sequencing in Newborn Screening: A Review of Current State
Ž. I. Remec, Katarina Trebušak Podkrajšek, Barbka Repič Lampret, J. Kovač +4 more
2021Frontiers in Genetics75 citations Open access
Semantic Scholar
Influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in childhood acute lymphoblastic leukemia
N. Erčulj, B. Kotnik, M. Debeljak, J. Jazbec +1 more
2012Leukemia and Lymphoma73 citations
Semantic Scholar
Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients
D. Perko, M. Debeljak, N. Toplak, T. Avčin
2015Mediators of Inflammation70 citations Open access
Semantic Scholar
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study.
Kanika I. Dharmayat, A. Vallejo-Vaz, Christophe A. T. Stevens, J. Brandts +481 more
2023The Lancet52 citations Open access
Semantic Scholar
Extracellular Vesicles Derived Human-miRNAs Modulate the Immune System in Type 1 Diabetes
T. Tesovnik, J. Kovač, K. Pohar, S. Hudoklin +9 more
2020Frontiers in Cell and Developmental Biology48 citations Open access
Semantic Scholar
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling
Maud Tusseau, E. Lovšin, C. Samaille, R. Pescarmona +24 more
2022Journal of Clinical Immunology38 citations
Semantic Scholar
Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing
B. R. Lampret, Ž. I. Remec, A. Torkar, M. Tanšek +10 more
2020Slovenian Journal of Public Health36 citations Open access
Semantic Scholar
Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency—a Report from the Slovenian National Registry
S. Blazina, Gašper Markelj, A. Jeverica, N. Toplak +6 more
2016Journal of Clinical Immunology33 citations
Semantic Scholar
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature
Lana Stavber, T. Hovnik, P. Kotnik, L. Lovrečić +7 more
2019European Journal of Endocrinology32 citations Open access
Semantic Scholar
Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review
N. Gregorič, U. Grošelj, N. Bratina, M. Debeljak +6 more
2021Frontiers in Endocrinology31 citations Open access
Semantic Scholar
Polymorphisms in GRIA1 gene are a risk factor for asparaginase hypersensitivity during the treatment of childhood acute lymphoblastic leukemia
V. Rajić, M. Debeljak, K. Goričar, J. Jazbec
2015Leukemia and Lymphoma30 citations
Semantic Scholar
Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity
R. Šket, P. Kotnik, B. Bizjan, Valentina Kocen +5 more
2022Frontiers in Endocrinology28 citations Open access
Semantic Scholar
Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein α with 13 years difference at onset
M. Debeljak, L. Kitanovski, T. Pajič, J. Jazbec
2013Haematologica26 citations Open access
Semantic Scholar
The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes
Barbara Čugalj Kern, Katarina Trebušak Podkrajšek, J. Kovač, R. Šket +5 more
2022Genes24 citations Open access
Semantic Scholar
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
R. Machado, C. Welch, M. Haimel, M. Bleda +18 more
2021Journal of Medical Genetics23 citations Open access
Semantic Scholar
Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.
P. Fister, A. Soltirovska-Šalamon, M. Debeljak, D. Paro-Panjan
2013European journal of paediatric neurology23 citations
Semantic Scholar
Technological Approaches in the Analysis of Extracellular Vesicle Nucleotide Sequences
T. Tesovnik, Barbara Jenko Bizjan, R. Šket, M. Debeljak +2 more
2021Frontiers in Bioengineering and Biotechnology22 citations Open access
Semantic Scholar
Electrophysiological Studies to Detect Peripheral Neuropathy in Children Treated With Vincristine
Marko Kavčič, B. Koritnik, M. Kržan, Orjana Velikonja +4 more
2017Journal of pediatric hematology/oncology22 citations
Semantic Scholar
Challenges in identifying large germline structural variants for clinical use by long read sequencing
Barbara Jenko Bizjan, T. Katsila, T. Tesovnik, R. Šket +3 more
2019Computational and Structural Biotechnology Journal21 citations Open access
Semantic Scholar
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
S. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, B. Wolska-Kuśnierz +48 more
2020Frontiers in Immunology19 citations Open access
Semantic Scholar
Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation
Jelena Milenković, J. Vojinović, M. Debeljak, N. Toplak +8 more
2016Pediatric Rheumatology Online Journal19 citations Open access
Semantic Scholar
DNA repair polymorphisms influence the risk of second neoplasm after treatment of childhood acute lymphoblastic leukemia
N. Erčulj, Barbara Faganel Kotnik, M. Debeljak, J. Jazbec +1 more
2012Journal of Cancer Research and Clinical Oncology17 citations Open access
Semantic Scholar
PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome
E. Lovšin, J. Kovač, T. Tesovnik, N. Toplak +4 more
2020Frontiers in Immunology16 citations Open access
Semantic Scholar
Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls
A. Kopitar, Gašper Markelj, M. Oražem, S. Blazina +3 more
2019Frontiers in Immunology16 citations Open access
Semantic Scholar
Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population
B. R. Lampret, Simona Murko, M. Tanšek, K. T. Podkrajšek +3 more
2014Journal of Medical Biochemistry15 citations Open access
Semantic Scholar
Heterozygous NPR2 Variants in Idiopathic Short Stature
Lana Stavber, M. Gaia, T. Hovnik, Barbara Jenko Bizjan +6 more
2022Genes14 citations Open access
Semantic Scholar
A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review
Janez Jan Arko, M. Debeljak, M. Tanšek, T. Battelino +1 more
2020Journal of International Medical Research14 citations Open access
Semantic Scholar
The influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in children with non-Hodgkin malignant lymphoma
N. Erčulj, B. Kotnik, M. Debeljak, J. Jazbec +1 more
2014Radiology and Oncology14 citations Open access
Semantic Scholar
Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic
A. Šedivá, R. Horváth, V. Maňásek, A. Gřegořová +5 more
2014Clinical Genetics14 citations
Semantic Scholar
Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies
S. Blazina, M. Debeljak, M. Košnik, S. Simčič +7 more
2018Frontiers in Immunology13 citations Open access
Semantic Scholar
The association of folate pathway and DNA repair polymorphisms with susceptibility to childhood acute lymphoblastic leukemia.
K. Goričar, N. Erčulj, Barbara Faganel Kotnik, M. Debeljak +3 more
2015Gene13 citations
Semantic Scholar
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study.
Amany Elshorbagy, A. R. Lyons, A. Vallejo-Vaz, Christophe A. T. Stevens +496 more
2024The Lancet Diabetes and Endocrinology12 citations Open access
Semantic Scholar
The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations.
M. Debeljak, N. Toplak, N. Abazi, B. Szabados +7 more
2015Clinical and Experimental Rheumatology12 citations
Semantic Scholar
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)
B. R. Lampret, Simona Murko, M. Debeljak, M. Tanšek +2 more
2015Biochemia Medica12 citations Open access
Semantic Scholar
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency
Tjaša Krašovec, J. Šikonja, Mojca Žerjav Tanšek, M. Debeljak +12 more
2022Genes11 citations Open access
Semantic Scholar
Integrating Genetic Insights, Technological Advancements, Screening, and Personalized Pharmacological Interventions in Childhood Obesity
R. Šket, Barbara Slapnik, P. Kotnik, Klementina Črepinšek +8 more
2024Advances in Therapy10 citations Open access
Semantic Scholar
Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis
Tamara Rojnik, Nataša Sedlar, Nana Turk, A. Kastrin +2 more
2023Scientific Reports10 citations Open access
Semantic Scholar
Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi–Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency
Mojca Železnik, Aneta Soltirovska Šalamon, M. Debeljak, Aleš Goropevšek +4 more
2023Frontiers in Immunology10 citations Open access
Semantic Scholar
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient
Ana Drole Torkar, Magdalena Avbelj Stefanija, S. Bertok, Katarina Trebušak Podkrajšek +4 more
2021Frontiers in Endocrinology10 citations Open access
Semantic Scholar
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
Ž. I. Remec, U. Grošelj, Ana Drole Torkar, Mojca Žerjav Tanšek +8 more
2021Frontiers in Genetics10 citations Open access
Semantic Scholar
Clinical Impacts of Copy Number Variations in B-cell Differentiation and Cell Cycle Control Genes in Pediatric B-cell Acute Lymphoblastic Leukemia: a Single Centre Experience
Klementina Črepinšek, Gašper Marinšek, Marko Kavčič, T. Prelog +3 more
2021Radiology and Oncology10 citations Open access
Semantic Scholar
Cathepsin C Gene 5′-Untranslated Region Mutation in Papillon-Lefèvre Syndrome
Rok Kosem, M. Debeljak, Barbka Repič Lampret, A. Kansky +2 more
2012Dermatology10 citations
Semantic Scholar
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
A. Kavčič, M. Homan, M. Živanović, M. Debeljak +6 more
2022The American journal of case reports9 citations Open access
Semantic Scholar
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening
A. Šmon, U. Grošelj, M. Debeljak, Mojca Žerjav Tanšek +5 more
2018Journal of International Medical Research8 citations Open access
Semantic Scholar
Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).
Alenka Trampuš Bakija, M. Debeljak, I. Zupan, Majda Benedik Dolničar +2 more
2015Blood transfusion = Trasfusione del sangue8 citations
Semantic Scholar
PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol
Klementina Črepinšek, Nika Klobučar, T. Tesovnik, R. Šket +7 more
2024Cancers7 citations Open access
Semantic Scholar
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
N. Molk, M. Bitenc, D. Urlep, Mojca Žerjav Tanšek +7 more
2023Frontiers in Medicine7 citations Open access
Semantic Scholar
The use of quetiapine in treatment of acute psychotic symptoms in an adolescent patient with primary brain calcification: a case report
Barbara Plemeniti Tololeski, M. Debeljak, Mirjana Perkovič Benedik, Tristan Rigler +4 more
2019BMC Psychiatry7 citations Open access
Semantic Scholar
Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children.
U. Grošelj, J. Kafol, N. Molk, K. Sedej +7 more
2024Atherosclerosis6 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

T. Battelino×22
Invite
T. Battelino — researcher profile on SciRah
J. Kovač×18
Invite
J. Kovač — researcher profile on SciRah
J. Jazbec×12
Invite
J. Jazbec — researcher profile on SciRah
U. Grošelj×12
Invite
U. Grošelj — researcher profile on SciRah

×11

Invite

T. Tesovnik — researcher profile on SciRah

Invite

T. Avčin — researcher profile on SciRah

Katarina Trebušak Podkrajšek×8

Invite

Katarina Trebušak Podkrajšek — researcher profile on SciRah

Invite

P. Kotnik — researcher profile on SciRah

Invite

N. Toplak — researcher profile on SciRah

Invite

S. Bertok — researcher profile on SciRah

Invite

R. Šket — researcher profile on SciRah

Barbara Jenko Bizjan×6

Invite

Barbara Jenko Bizjan — researcher profile on SciRah