1. A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features. Issue 5 (13th March 2022) Authors: Salah, Azza; Almannai, Mohammed; Al Ojaimi, Mode; Radefeldt, Mandy; Gulati, Nishtha; Iqbal, Maria; Alawbathani, Salem; Al‐Ali, Ruslan; Beetz, Christian; El‐Hattab, Ayman W. Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 565 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Issue 3 (26th November 2016) Authors: Machol, Keren; Jain, Mahim; Almannai, Mohammed; Orand, Thibault; Lu, James T.; Tran, Alyssa; Chen, Yuqing; Schlesinger, Alan; Gibbs, Richard; Bonafe, Luisa; Campos‐Xavier, Ana Belinda; Unger, Sheila; Superti‐Furga, Andrea; Lee, Brendan H.; Campeau, Philippe M.; Burrage, Lindsay C. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 733 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Disorders of histone methylation: Molecular basis and clinical syndromes. Issue 3 (6th July 2022) Authors: Al Ojaimi, Mode; Banimortada, Bashar J.; Othman, Amna; Riedhammer, Korbinian M.; Almannai, Mohammed; El‐Hattab, Ayman W. Journal: Clinical genetics Issue: Volume 102:Issue 3(2022) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Issue 5 (12th April 2022) Authors: Almannai, Mohammed; Marafi, Dana; Abdel‐Salam, Ghada M. H.; Zaki, Maha S.; Duan, Ruizhi; Calame, Daniel; Herman, Isabella; Levesque, Felix; Elbendary, Hasnaa M.; Hegazy, Ibrahim; Chung, Wendy K.; Kavus, Haluk; Saeidi, Kolsoum; Maroofian, Reza; AlHashim, Aqeela; Al‐Otaibi, Ali; Al Madhi, Asma; Abo... Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Further delineation of METTL23‐associated intellectual disability. Issue 4 (18th February 2020) Authors: Almannai, Mohammed; Obaid, Osama; Faqeih, Eissa; Alasmari, Ali; Samman, Manar M.; Pinz, Hailey; Braddock, Stephen R.; Alkuraya, Fowzan S. Journal: American journal of medical genetics Issue: Volume 182:Issue 4(2020) Page Start: 785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy. (2nd April 2021) Authors: Almannai, Mohammed; Luo, Shiyu; Faqeih, Eissa; Almutairi, Fuad; Li, Qifei; Agrawal, Pankaj B. Journal: Circulation Issue: Volume 14:Number 2(2021) Page Start: e003310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn. (30th November 2020) Authors: Almannai, Mohammed; Aldehaimi, Abdulwahed; Peake, Roy W A; Almontashiri, Naif A M Journal: Clinical chemistry Issue: Volume 67:Number 1(2021) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular and clinical spectra of FBXL4 deficiency. Issue 12 (6th October 2017) Authors: El‐Hattab, Ayman W.; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; Elamin, Mohammed A. O.; Alfadhel, Majid; Alkuraya, Fowzan S.; Hashem, Mais; Aldosary, Mazhor S.; Almass, Rawan; Almutairi, Faten B.; Alsagob, Maysoon; Al‐Owain, Mohammed;... Journal: Human mutation Issue: Volume 38:Issue 12(2017) Page Start: 1649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Issue 4 (13th January 2018) Authors: El‐Hattab, Ayman W.; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J.; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J.; Afqi, Manal; Saleh, Mohammed A. M.; Faqeih, Eissa A.; Alzaidan, Hamad I.; Alshenqiti, Abduljabbar; Flore, Leigh Anne;... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗