Jozef Hertecant

Tawam Hospital — AE

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index2.4kcitations75works0.02yr avg
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Research Topics

Genomics and Rare Diseases(18), Metabolism and Genetic Disorders(14), Genetics and Neurodevelopmental Disorders(13), Mitochondrial Function and Pathology(10), RNA regulation and disease(5)

Publications75 total

Expansion of the clinical and molecular spectrum of <i>WWOX</i>‐related epileptic encephalopathy
American Journal of Medical Genetics Part A·2022· 6 cited
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Human Molecular Genetics·2022· 8 citedOpen Access
Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene
Frontiers in Pediatrics·2022· 2 citedOpen Access
<scp>Bi‐allelic</scp> null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive
Clinical Genetics·2022· 9 cited
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1
Hepatology Communications·2021· 16 citedOpen Access
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients
Genes·2021· 9 citedOpen Access
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
Molecular Brain·2021· 10 citedOpen Access
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population
Clinical Genetics·2021· 22 cited
Author response for "Spectrum of neuro‐genetic disorders in the United Arab Emirates ( UAE ) National population"
2021Open Access
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Genetics in Medicine·2021· 26 citedOpen Access
Biallelic loss‐of‐function <scp><i>HACD1</i></scp> variants are a bona fide cause of congenital myopathy
Clinical Genetics·2020· 10 cited
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Genetics in Medicine·2020· 2 citedOpen Access
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Genetics in Medicine·2020· 65 citedOpen Access
Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
Case Reports in Pediatrics·2020· 2 citedOpen Access
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases
Journal of Central Nervous System Disease·2020· 16 citedOpen Access
An Unorthodox Disease Mechanism
2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Acta Neuropathologica·2019· 68 citedOpen Access
<i>RARS1</i>‐related hypomyelinating leukodystrophy: Expanding the spectrum
Annals of Clinical and Translational Neurology·2019· 29 citedOpen Access
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases
2019· 7 citedOpen Access
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
Scientific Reports·2019· 24 citedOpen Access
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Frequent Co-authors

Lihadh Al‐Gazali(14), Bassam R. Ali(11), Aisha Al‐Shamsi(9), Fatma Al‐Jasmi(7), L.I. Al-Gazali(5), Salma Ben‐Salem(5), Ayman W. El‐Hattab(4), Christine M. Eng(4), Yaping Yang(4), Fatma Al Jasmi(4), Henry Houlden(3), Nicole I. Wolf(3), Ehsan Ghayoor Karimiani(3), Reza Maroofian(3), Abdul‐Kader Souid(3), Majid Alfadhel(3), Aisha Al Shamsi(3), Fan Xia(3), Enrico Bertini(2), Mohammed Al‐Owain(2)