Periklis Makrythanasis
National and Kapodistrian University of Athens
H-index: 30
Europe-Greece
Top articles of Periklis Makrythanasis
A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
Genes
2024/4/23
Periklis Makrythanasis
H-Index: 20
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin‐Related Parkinson's Disease
Movement Disorders
2024/2/15
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
The American Journal of Human Genetics
2023/3/2
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
2023/1/2
Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)
European Journal of Human Genetics
2023/10
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Genes
2023/7/25
Periklis Makrythanasis
H-Index: 20
Maria Tzetis
H-Index: 22
Germline CNV detection through whole-exome sequencing (WES) Data Analysis enhances Resolution of Rare Genetic Diseases
Genes
2023/7/21
FOXI3 pathogenic variants cause one form of craniofacial microsomia
Nature Communications
2023/4/11
Muhammad Ansar
H-Index: 0
Periklis Makrythanasis
H-Index: 20
Bingqing Wang
H-Index: 3
Xiaopeng Xu
H-Index: 1
Qiang Li
H-Index: 25
Xavier Blanc
H-Index: 18
Hao Zhu
H-Index: 30
Qi Chen
H-Index: 9
Sunita Singh
H-Index: 12
Hongyuan Zhang
H-Index: 11
Xiaogang Wang
H-Index: 12
Peiwei Chen
H-Index: 1
Alessandro De Luca
H-Index: 38
International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto …
Orphanet journal of rare diseases
2022/7/19
Periklis Makrythanasis
H-Index: 20
Marcel Zwahlen
H-Index: 71
NFB-17." Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1)
Neuro-Oncology
2022/6
Genetic predisposition in pediatric acute myocarditis: a pilot study
European Heart Journal
2021/10/1
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
Genetics in Medicine
2021/7
Generation of non-small cell lung cancer patient-derived xenografts to study intratumor heterogeneity
Cancers
2021/5/18
Ioannis S Pateras
H-Index: 22
Margaritis Avgeris
H-Index: 16
Periklis Makrythanasis
H-Index: 20
Evi Lianidou
H-Index: 41
14P Studying tumour heterogeneity of primary non-small cell lung cancer in humans and mice (PDX)
Journal of Thoracic Oncology
2021/4/1
Genome Sequencing of five Lacticaseibacillus Strains and Analysis of Type I and II Toxin-Antitoxin System Distribution
Microorganisms
2021/3/21
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy
The American Journal of Human Genetics
2020/9/3
Periklis Makrythanasis
H-Index: 20
Gabrielle Lemire
H-Index: 3
Sophie Ehresmann
H-Index: 7
Sylviane Hanquinet
H-Index: 15
Identification, Characterization, and Treatment for a Taurine Transporter (SLC6A6) Variant Resulting in Taurine Deficiency and Pathologies in a Consanguineous Family.
The FASEB Journal
2020/4
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
Human molecular genetics
2020/2/15
Distribution of runs of homozygosity (ROHs) along the human genome is shaped by recombination and purifying selection
2020
