Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

Authors: Faqeih, Eissa A., Alghamdi, Malak Ali, Almahroos, Marwa A., Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M., Clément, Prouteau, Calame, Daniel G., Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R., Pastore, Annalisa, Peake, Roy W.A., Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A.M.

Source: In Genetics in Medicine February 2023 25(2)

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination

Authors: Ijaz, Ambreen, Alfadhli, Fatima, Alharbi, Azizah, Khan, Yasir Naseem, Alhawas, Yasser Khaled, Hashmi, Jamil A., Wali, Abdul, Basit, Sulman

Source: In European Journal of Medical Genetics October 2022 65(10)

A novel frameshift mutation in the ITGB3 gene leading to Glanzmann's thrombasthenia in a Saudi Arabian family

Authors: Alharbi, Asma, Hashmi, Jamil A., Alharby, Essa, Albalawi, Alia M., Ramzan, Khushnooda, Basit, Sulman

Source: In Hematology/Oncology and Stem Cell Therapy January 2021

Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes

Authors: Al‐Fadhli, Fatima M., Afqi, Manal, Sairafi, Mona Hamza, Almuntashri, Makki, Alharby, Essa, Alharbi, Ghadeer, Abdud Samad, Firoz, Hashmi, Jamil Amjad, Zaytuni, Dimah, Bahashwan, Ahmed A., Choi, Jin Huk, Peake, Roy W. A., Beutler, Bruce, Almontashiri, Naif A. M.

Source: Clinical genetics. 99(5):694-703

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100119171156.0x000001&indx=1&recIds=ETOCvdc_100119171156.0x000001

De novo SCN1A missense variant in a patient with Parkinson's disease.

Authors: Alluqmani, Majed, Alayoubi, Abdulfatah M., Hashmi, Jamil A., Basit, Sulman

Source: Frontiers in Genetics; 2024, p1-6, 6p

Subject Terms: MIGRAINE aura, HEPATOLENTICULAR degeneration, PARKINSON'S disease, SYMPTOMS, FEBRILE seizures, MISSENSE mutation

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family

Authors: Hashmi, Jamil A., Fadhli, Fatima, Almatrafi, Ahmed, Afzal, Sibtain, Ramzan, Khushnooda, Thiele, Holger, Nürnberg, Peter, Basit, Sulman

Source: Brain & development. 42(8):587-593

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120608108.0x000001&indx=1&recIds=ETOCvdc_100120608108.0x000001

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder

Authors: Alharby, Essa, Bakhsh, Mohammad A, Albalawi, Alia M, Almutairi, Sultan O, Hashmi, Jamil A, Basit, Sulman

Source: Platelets. 31(5):646-651

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110747599.0x000001&indx=1&recIds=ETOCvdc_100110747599.0x000001

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

Authors: Albalawi, Alia M., Hashmi, Jamil A., Alfadhli, Fatima, Almatrafi, Ahmad, Ramzan, Khushnooda, Basit, Sulman

Source: Annals of dermatology. 32(1):77-80

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN622866790&indx=1&recIds=ETOCRN622866790

Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome

Authors: Basit, Sulman, Al-Edressi, Howaida Mohammed, Sairafi, Mona Hamza, Hashmi, Jamil Amjad, Alharby, Essa, Safar, Ramzia, Ramzan, Khushnooda

Source: Journal of nephrology. 33(4):763-769

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172449749.0x000001&indx=1&recIds=ETOCvdc_100172449749.0x000001

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Authors: Hashmi, Jamil Amjad, Latif, Muhammad, Balahmar, Reham M., Ali, Muhammad Zeeshan, Alfadhli, Fatima, Khan, Muzammil Ahmad, Basit, Sulman

Source: Frontiers in Genetics; 2024, p1-10, 10p

Subject Terms: SYMPTOMS, HEARING disorders, PATIENTS' families, CLUBFOOT, SKELETAL abnormalities

Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.

Authors: Almatrafi, Ahmad M., Alayoubi, Abdulfatah M., Alluqmani, Majed, Hashmi, Jamil A., Basit, Sulman

Source: Journal of Clinical Medicine; Jul2024, Vol. 13 Issue 14, p4252, 10p

Subject Terms: MISSENSE mutation, GENETIC disorders, SEQUENCE analysis, DYSTONIA, PHENOTYPES

An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant

Authors: Hashmi, Jamil Amjad, Almatrafi, Ahmad, Latif, Muhammad, Nasir, Abdul, Basit, Sulman

Source: In European Journal of Medical Genetics February 2019 62(2):124-128

NR2F1 mediated down-regulation of osteoblast differentiation was rescued by bone morphogenetic protein-2 (BMP-2) in human MSC

Authors: Manikandan, Muthurangan, Abuelreich, Sarah, Elsafadi, Mona, Alsalman, Hussain, Almalak, Hassan, Siyal, Abdulaziz, Hashmi, Jamil Amjad, Aldahmash, Abdullah, Kassem, Moustapha, Alfayez, Musaad, Mahmood, Amer

Source: In Differentiation November-December 2018 104:36-41

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita

Authors: Almatrafi, Ahmad, Alfadhli, Fatima, Khan, Yasir Naseem, Afzal, Sibtain, Hashmi, Jamil A., Ullah, Anhar, Albalawi, Alia M., Basit, Sulman

Source: Genetic testing and molecular biomarkers. 23(5):310-315

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121096768.0x000001&indx=1&recIds=ETOCvdc_100121096768.0x000001

Genetics of developmental dysplasia of the hip: Recent progress and future perspectives

Authors: Hashmi, Jamil, Basit, Sulman, Khoshhal, Khalid

Source: Journal of Musculoskeletal Surgery and Research. 3(3):245-253

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088647166.0x000001&indx=1&recIds=ETOCvdc_100088647166.0x000001

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

Authors: Albarry, Maan Abdullah, Hashmi, Jamil Amjad, Alreheli, Ahdab Qasem, Albalawi, Alia M., Khan, Bushra, Ramzan, Khushnooda, Basit, Sulman

Source: Ophthalmic genetics. 40(6):507-513

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097162642.0x000001&indx=1&recIds=ETOCvdc_100097162642.0x000001

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families

Authors: AlAyadhi, Laila Y., Hashmi, Jamil A., Iqbal, Muhammad, Albalawi, Alia M., Samman, Mohammad I., Elamin, Nadra E., Bashir, Shahid, Basit, Sulman

Source: In Neuroscience 17 December 2016 339:561-570

Identification of Novel and Recurrent Variants in BTD , GBE1 , AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia.

Authors: Latif, Muhammad^1,2 (AUTHOR) jamjadali@taibahu.edu.sa, Hashmi, Jamil Amjad^1,2 (AUTHOR) aayoubi@taibahu.edu.sa, Alayoubi, Abdulfatah M.¹ (AUTHOR), Ayub, Arusha³ (AUTHOR) arushaayub.std@ug.edu.ge, Basit, Sulman^1,2 (AUTHOR) latifmayo@gmail.com

Source: Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1193. 11p.

Subject Terms: *METABOLIC disorders, *CARRIER proteins, *GENETIC mutation, *SYMPTOMS, *MISSENSE mutation, *RECURRENT miscarriage

Geographic Terms: SAUDI Arabia

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

Authors: Hashmi, Jamil A., Al-Harbi, Khalid M., Ramzan, Khushnooda, Albalawi, Alia M., Mehmood, Amir, Samman, Mohammed I., Basit, Sulman

Source: Annals of Saudi medicine. 36(6):391-396

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN609741568&indx=1&recIds=ETOCRN609741568

Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome

Authors: Basit, Sulman, Al-Edressi, Howaida Mohammed, Sairafi, Mona Hamza, Hashmi, Jamil Amjad, Alharby, Essa, Safar, Ramzia, Ramzan, Khushnooda

Source: Journal of Nephrology; 20240101, Issue: Preprints p1-7, 7p