1. A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. Issue 1 (December 2016) Authors: Akawi, Nadia; Ben-Salem, Salma; Hertecant, Jozef; John, Anne; Pramathan, Thachillath; Kizhakkedath, Praseetha; Ali, Bassam; Al-Gazali, Lihadh Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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. Issue 9 (28th July 2018) Authors: Abdelrahman, Hanadi A.; Al‐Shamsi, Aisha; John, Anne; Hertecant, Jozef; Lootah, Ali; Ali, Bassam R.; Al‐Gazali, Lihadh Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 1996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Issue 5 (14th April 2020) Authors: Marafi, Dana; Mitani, Tadahiro; Isikay, Sedat; Hertecant, Jozef; Almannai, Mohammed; Manickam, Kandamurugu; Abou Jamra, Rami; El‐Hattab, Ayman W.; Rajah, Jaishen; Fatih, Jawid M.; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Boerwinkle, Eric;... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 5(2020) Page Start: 610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Issue 3 (25th December 2018) Authors: Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W... Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: 267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive. Issue 4 (8th January 2022) Authors: Abdelrahman, Hanadi A.; Akawi, Nadia; Al‐Shamsi, Aisha M.; Ali, Amanat; Al‐Jasmi, Fatma; John, Anne; Hertecant, Jozef; Al‐Gazali, Lihadh; Ali, Bassam R. Journal: Clinical genetics Issue: Volume 101:Issue 4(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Issue 5 (14th April 2015) Authors: Huemer, Martina; Karall, Daniela; Schossig, Anna; Abdenur, Jose E.; Al Jasmi, Fatma; Biagosch, Caroline; Distelmaier, Felix; Freisinger, Peter; Graham, Brett H.; Haack, Tobias B.; Hauser, Natalie; Hertecant, Jozef; Ebrahimi‐Fakhari, Darius; Konstantopoulou, Vassiliki; Leydiker, Karen; Lourenco, C... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 5(2015) Page Start: 905 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 40, Issue 3. Issue 3 (10th February 2019) Authors: Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W... Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases. (February 2020) Authors: Al Jasmi, Fatma; Al Zaabi, Nuha; Al-Thihli, Khalid; Al Teneiji, Amal M; Hertecant, Jozef; El-Hattab, Ayman W Journal: Journal of central nervous system disease Issue: Volume 12(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome. Issue 2 (29th November 2018) Authors: Pathak, Sagar J.; Mueller, James L.; Okamoto, Kevin; Das, Barun; Hertecant, Jozef; Greenhalgh, Lynn; Cole, Trevor; Pinsk, Vered; Yerushalmi, Baruch; Gurkan, Odul E.; Yourshaw, Michael; Hernandez, Erick; Oesterreicher, Sandy; Naik, Sandhia; Sanderson, Ian R.; Axelsson, Irene; Agardh, Daniel; Bolan... Journal: Human mutation Issue: Volume 40:Issue 2(2019) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy. Issue 3 (19th December 2022) Authors: Chong, Shuk Ching; Cao, Ye; Fung, Eva L. W.; Kleppe, Soledad; Gripp, Karen W.; Hertecant, Jozef; El‐Hattab, Ayman W.; Suleiman, Jehan; Clark, Gary; von Allmen, Gretchen; Rodziyevska, Olga; Lewis, Richard A.; Rosenfeld, Jill A.; Dong, Jie; Wang, Xia; Miller, Marcus J.; Bi, Weimin; Liu, Pengfei; Sc... Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 776 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗