Hertecant J - Search Results

1

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

Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: hertecant j. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.

2

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

Ben-Salem S, Hertecant J, Al-Shamsi AM, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: hertecant j. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):764-9. doi: 10.1002/bdra.23170. Epub 2013 Sep 6. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24014090

3

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

Al-Shamsi A, Hertecant JL, Al-Hamad S, Souid AK, Al-Jasmi F. Al-Shamsi A, et al. Sultan Qaboos Univ Med J. 2014 Feb;14(1):e42-9. doi: 10.12816/0003335. Epub 2014 Jan 27. Sultan Qaboos Univ Med J. 2014. PMID: 24516753 Free PMC article.

4

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

Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L. Ben-Salem S, et al. Among authors: hertecant j. Metab Brain Dis. 2015 Jun;30(3):687-94. doi: 10.1007/s11011-014-9618-0. Epub 2014 Sep 17. Metab Brain Dis. 2015. PMID: 25227173 Free PMC article.

5

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

Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F. Al-Shamsi AM, et al. Among authors: hertecant j. Eur J Pediatr. 2015 May;174(5):661-8. doi: 10.1007/s00431-014-2449-5. Epub 2014 Nov 12. Eur J Pediatr. 2015. PMID: 25388407

6

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

Al-Jasmi FA, Al-Shamsi A, Hertecant JL, Al-Hamad SM, Souid AK. Al-Jasmi FA, et al. JIMD Rep. 2016;28:127-135. doi: 10.1007/8904_2015_512. Epub 2015 Nov 21. JIMD Rep. 2016. PMID: 26589311 Free PMC article.

7

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

Al-Shamsi A, Baker A, Dhawan A, Hertecant J. Al-Shamsi A, et al. Among authors: hertecant j. JIMD Rep. 2016;30:59-62. doi: 10.1007/8904_2016_532. Epub 2016 Apr 28. JIMD Rep. 2016. PMID: 27117295 Free PMC article.

8

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

Al-Shamsi A, Hertecant JL, Souid AK, Al-Jasmi FA. Al-Shamsi A, et al. Orphanet J Rare Dis. 2016 Jul 8;11(1):94. doi: 10.1186/s13023-016-0474-3. Orphanet J Rare Dis. 2016. PMID: 27391121 Free PMC article.

9

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

Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Meng L, et al. Among authors: hertecant j. Am J Med Genet A. 2017 Feb;173(2):460-470. doi: 10.1002/ajmg.a.38049. Epub 2016 Nov 11. Am J Med Genet A. 2017. PMID: 27860360 Review.

10

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

Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS. Al Mutairi F, et al. Among authors: hertecant j. Pediatr Neurol. 2018 Jan;78:35-40. doi: 10.1016/j.pediatrneurol.2017.09.002. Epub 2017 Oct 5. Pediatr Neurol. 2018. PMID: 29239743

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