J. Hertecant

发表

Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

S. Young, J. Kastelein, A. Beigneux, 2010, Circulation. Cardiovascular genetics.

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

T. Vacík, Ľ. Lacinová, J. Ibrahim, 2021, Molecular brain.

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

K. Kandaswamy, W. Reardon, P. Bauer, 2020, European journal of human genetics : EJHG.

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

L. Al-Gazali, B. Ali, J. Hertecant, 2012, Genetic testing and molecular biomarkers.

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

L. Al-Gazali, N. Akawi, B. Ali, 2011, Saudi medical journal.

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

L. Al-Gazali, B. Ali, J. Hertecant, 2009, Saudi medical journal.

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Mohammad A. Ghattas, Yaping Yang, C. Eng, 2017, European journal of medical genetics.

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

M. He, C. Thiel, T. Gadomski, 2017, Genetics in Medicine.

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

A. El-Hattab, K. Al-Thihli, J. Hertecant, 2020, Journal of central nervous system disease.

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

L. Huber, S. Mansour, H. Uhlig, 2021, Journal of clinical medicine.

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Emily H Turner, J. Shendure, J. Swanson, 2013, American journal of human genetics.

Zellweger syndrome and secondary mitochondrial myopathy

M. Kinali, V. Salpietro, M. Ruggieri, 2015, European Journal of Pediatrics.

Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.

C. Shackleton, J. Funder, R. C. Wilson, 1995, The Journal of clinical endocrinology and metabolism.

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.

D. Cassiman, C. Thiel, P. Vermeersch, 2019, American journal of human genetics.

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

R. Rodenburg, J. Smeitink, E. Mayatepek, 2015, Human mutation.

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

A. Souid, J. Hertecant, Aisha M Al-Shamsi, 2015, JIMD reports.

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

K. Al-Thihli, O. Al-Dirbashi, J. Okun, 2019, Scientific Reports.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

Can untreated PKU patients escape from intellectual disability? A systematic review

A. Federico, C. V. van Karnebeek, C. Hollak, 2018, Orphanet Journal of Rare Diseases.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

J. Gleeson, L. Al-Gazali, B. Ali, 2015, Metabolic Brain Disease.

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

F. Alkuraya, E. Faqeih, A. El-Hattab, 2018, Pediatric neurology.

Severe exfoliative erythema of malnutrition in a child with coexisting coeliac and Hartnup’s disease

T. Berger, Y. Abdulrazzaq, Y. Abdulrazzaq, 2009, Clinical and experimental dermatology.

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

A. Woolf, A. Gropman, M. Wessling-Resnick, 2018, Molecular genetics and metabolism.

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

C. V. van Karnebeek, M. Stojiljkovic, P. Mathisen, 2019, Nutrients.

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

L. Al-Gazali, N. Akawi, B. Ali, 2016, Orphanet Journal of Rare Diseases.

On the phenotypic spectrum of serine biosynthesis defects

F. Alkuraya, A. El-Hattab, R. Shaheen, 2016, Journal of Inherited Metabolic Disease.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

C. Woods, D. Owen, A. Phelan, 2015, Brain : a journal of neurology.

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

W. Sly, Sarah M Robbins, G. Cutting, 2016, Human molecular genetics.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

A. Need, A. Pagnamenta, M. Bleda, 2021, Genetics in Medicine.

A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family

L. Al-Gazali, B. Ali, A. John, 2018, American journal of medical genetics. Part A.

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

L. Al-Gazali, B. Ali, J. Hertecant, 2016, Meta gene.

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

A. Souid, J. Hertecant, Aisha M Al-Shamsi, 2014, Sultan Qaboos University medical journal.

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

L. Al-Gazali, B. Ali, J. Hertecant, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy

J. Rosenfeld, K. Gripp, W. Bi, 2022, American journal of medical genetics. Part A.

M. Gambello, Henry C. Lin, Julia Wang, 2018, Human mutation.

An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy.

L. Al-Gazali, M. Bakir, A. Kakadekar, 2002, Clinical dysmorphology.

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.

A. Dhawan, J. Hertecant, Aisha M Al-Shamsi, 2016, JIMD reports.

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

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

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

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

Pneumatosis and pneumoperitoneum in chronic idiopathic intestinal pseudoobstruction.

F. Luks, C. Roy, J. Hertecant, 1991, Journal of pediatric surgery.

Spectrum of neuro‐genetic disorders in the United Arab Emirates national population

L. Al-Gazali, J. Hertecant, Ela Beyyumi, 2021, Clinical genetics.

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.

L. Al-Gazali, B. Ali, J. Hertecant, 2012, European journal of medical genetics.

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

C. Boland, C. Putnam, Martín G. Martín, 2018, Human mutation.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

E. Bertini, M. Simpson, H. Goebel, 2012, Nature Genetics.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

S. Antonarakis, J. Hunter, Yaping Yang, 2018, Human mutation.

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2019, Annals of clinical and translational neurology.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

J. Gleeson, L. Al-Gazali, B. Ali, 2014, Metabolic Brain Disease.

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

A. Souid, J. Hertecant, Aisha M Al-Shamsi, 2016, Orphanet Journal of Rare Diseases.

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

J. Rosenfeld, J. Lupski, R. Gibbs, 2020, Annals of clinical and translational neurology.

Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

J. Hertecant, Osama Hamdoun, Amar Al-Shibli, 2020, Case reports in pediatrics.

Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy

P. Bauer, A. Bertoli-Avella, A. Rolfs, 2020, Clinical genetics.

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

J. Hertecant, Amanat Ali, F. Al-Jasmi, 2022, Frontiers in Pediatrics.

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.

B. Ali, A. Souid, F. Bastaki, 2013, JIMD reports.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Colin A. Johnson, Vagheesh M. Narasimhan, A. Barton, 2020, Genetics in Medicine.

Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

A. Souid, H. Narchi, J. Hertecant, 2017, Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association.

Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.

J. Balfe, C. D. Santis, M. New, 1998, The Journal of clinical endocrinology and metabolism.

Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency

T. Yuen, S. Haider, M. Yau, 2017, Proceedings of the National Academy of Sciences.

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

T. Vacík, Ľ. Lacinová, J. Ibrahim, 2020, Molecular Brain.

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability

J. Hertecant, Aisha M Al-Shamsi, S. Ben-Salem, 2015, European Journal of Pediatrics.

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family

M. Dattani, L. Al-Gazali, J. Hertecant, 2008, American journal of medical genetics. Part A.

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.

D. Kerr, M. Patel, C. Prasad, 2008, Molecular genetics and metabolism.

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

R. Weksberg, T. Meitinger, N. Boddaert, 2022, Human molecular genetics.

Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive

L. Al-Gazali, N. Akawi, B. Ali, 2022, Clinical genetics.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

S. Wortmann, N. Voermans, L. Al-Gazali, 2020, Molecular genetics and metabolism.

Further delineation of Hennekam syndrome

L. Al-Gazali, R. Padmanabhan, R. Ahmed, 2003, Clinical dysmorphology.

Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1

Richard J. Thompson, M. Deheragoda, A. Dhawan, 2021, Hepatology communications.

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

A. El-Hattab, B. Ali, J. Hertecant, 2018, Epileptic disorders : international epilepsy journal with videotape.

Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

Yaping Yang, F. Xia, Z. Niu, 2017, American journal of medical genetics. Part A.

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

J. Hertecant, Amanat Ali, Ranjit Vijayan, 2021, Genes.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

On the phenotypic spectrum of serine biosynthesis defects

F. Alkuraya, A. El-Hattab, R. Shaheen, 2016, Journal of Inherited Metabolic Disease.

Adrenoleukodystrophy: Cortical Hypoperfusion Demonstrated With 99mTc-HMPAO SPECT

L. Sztriha, J. Hertecant, A. A. Al Suhaili, 1994, Journal of child neurology.