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A

Afaf Alsagheir

king abdulaziz medical city - jeddah
H指数:15
被引数:1,304

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High-throughput evidence generation to support tentative gene-disease relationship from a cohort enriched for autozygosity and founder effect

高通量证据生成以支持来自富集自交亲和奠基者效应队列的候选基因-疾病关系

Genetics in Medicine
IF6.2
2026-08-010
PRE
Bakur, Khadijah; Alhaddad, Bader; Balubaid, Ali; Makki, Syed; Mohamed, Sarar; Al Mutairi, Fuad; Alswaid, Abdulrahman; Al Ghamdi, Malak; Alanzi, Talal; Eyaid, Wafaa; Almuqbil, Mohammed A.; Mahnashi, Mohammed A.; Al-Otaibi, Maha; Awaji, Ali; Bubshait, Dalal K.; Alshuaibi, Walaa; Altassan, Ruqaiah; Gosadi, Ghadah; Almardawi, Elham; Alshenqiti, Abduljabbar; Al Faifi, Abdullah; Bin Abbas, Bassam; Al-Muhaizea, Mohammad A.; AlZaidan, Hamad; Al-Owain, Mohammed; Busehail, Maryam; Al Balushi, Aaisha; Abadel, Basma Ali; Al Shehhi, Maryam; Al Tenaiji, Amal; Al-Nawfal, Abdullah; Aljack, Moayed; AlBadawi, Ahmed; Hamid, Halima; Al Shalan, Maha; Alotaibi, Modhi; Alathel, Hala; Algaeed, Fahad; Musambil, Mohthash; Naji, Hamzah; Alhefdhi, Shatha; Alrabee, Hadeel; Al Harbi, Maha; Hakami, Fahad; Abothnain, Manal; Kari, Jameela A.; Shalaby, Mohamed A.; Almajhad, Nabil; Baarma, Hanan; Tabarki, Brahim; Al Masseri, Zainab; Sulaiman, Raashda A.; Ababneh, Faroug; Abukhaled, Musaad; Bashaikh, Afnan; AlGarni, Abdulaziz Mohammed; Alghamdi, Khalid A.; Alsowat, Daad; Alfarsi, Anar; Habhab, Wisam; AlAali, Wajeih; Tulbah, Maha I.; AlTaifi, Hatoon Ahmed; Almubayedh, Sondos; Alsalamah, Abrar K.; Alqassmi, Amal; Abdullah, Sameer; Al Tala, Saeed; Howsawi, Yousef; Alhumaidi, Suzan Suliman; Shok, Ahmed Abkar; Alwadei, Ali H.; Shagrani, Mohammad; Alkuraya, Hisham; Alshaya, Wael; Abumansour, Iman Sabri; Mushiba, Aziza M.; Algethami, Albandari; Assiri, Asma; Ba-Abbad, Rola; Alaskar, Ahmed S.; Almoallem, Basamat; Al Mahroos, Marwa; Alanazi, Rola; Alanezi, Ahmad A.; Albert-Brotons, Dimpna C.; Alhashem, Amal; Alatawi, Mona; Ben-Omran, Tawfeg; Alsagheir, Afaf; Kaya, Namik; Maddirevula, Sateesh; Baalawi, Wail; Alfadhel, Majid; AlAbdi, Lama; Alkuraya, Fowzan S.
Genetics and clinical landscape of pediatric monogenic diabetes in consanguineous cohort: high diagnostic yield and recessive burden

近亲结婚群体中儿科单基因糖尿病的遗传学和临床概况：高诊断率和隐性负担

Diabetes Research and Clinical Practice
IF7.4
2026-07-010
PRE
Al Shaikh, Adnan; Alsagheir, Afaf; Bahha, Abdullah Talal; Alharthi, Mohammed; Al Bunyan, Abdulhameed; Alyahyawi, Naseem Yahya; Al Harbi, Tahani; Hakim, Sarah Y. Al; Mohammed, Moneera; Al Noaim, Khalid; Majrashi, Nada; Almutair, Angham; Al-Hamed, Mohamed H.
Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia

罕见病儿童父母的生存质量预测因素：沙特阿拉伯一家三级护理中心的横断面研究

Frontiers in Public Health
IF3.4
2026-04-040
OAAI
AA Abdullah Alkhani; MM Mariam M. Aleissa; FA Fahad Almsned; AA Albara Arefi; SA Sarah Alsaleh; AM Aya Mousli; HA Haifa Almuhanna; NM Nasser M. Alzain; SA Sami Alhaider; RA Raghad Alhuthil; AA Afaf Alsagheir
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem Manifestations

RNU6ATAC基因的双等位基因变异导致一种次要剪接障碍，其特征为转录组范围的次要内含子滞留事件、身材矮小以及多变的全身性表现。

Human Genetics and Genomics Advances
IF3.6
2026-03-090
OAAI
Rodrigo Mendez; Taylor M. Arriaga; Jialan Ma; Devon E. Bonner; Sara Emami; Rebecca J. Levy; Afaf Alsagheir; Bader Alhaddad; Khadijah Bakur; Rachel A. Ungar; Dena R. Matalon; Alexander M. Miller; Jonathan Nguyen; Kevin S. Smith; Stuart A. Scott; Linda Liao; Zena Ng; Shruti Marwaha; Alistair Ward; Danica Novacic
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population

沙特人群中1α-羟化酶缺陷的分子遗传学

Journal of the Endocrine Society
IF3.1
2026-02-010
OA
Bin-Abbas, Bassam; Alsagheir, Afaf; Alghamdi, Balgees; Benito, Allianah; Shi, Yufei; Alzelaye, Somaya Khader; Ahmad, Noman; Al Juraibah, Fahad; Alali, Amer Omar; Al Shaikh, Adnan; Attia, Najya; Albunyan, Abdulhameed Abdulmohsen; Alshahrany, Abdullah Saad; Nahari, Ahmed Ali; Sulaimani, Nabilah; Alrubaya, Khloud M.; Alzahrani, Ali S.
Expert Opinion Statement on Continuous Glucose Monitoring in Type 2 Diabetes in the Arab Gulf Region

阿拉伯海湾地区2型糖尿病连续血糖监测专家意见声明

Journal of Diabetes Science and Technology
IF3.7
2025-11-210
OA
Abdulrahman Alshaikh; Abdulmohsen Bakhsh; Afaf Al-Sagheir; Ahmed El-Laboudi; Dabia Al-Mohanadi; Fatheya Al Awadi; Hussein Elbadawi; Lamya Alzubaidi; Mohammed E. Al-Sofiani; Muhammad Hamed Farooqi; Raed Aldahash; Reem Alamoudi; Saud Alsifri; Mohammed Almehthel
The role of digital health in growth hormone therapy: perspectives from Gulf Cooperation Council pediatric endocrinologists

数字健康在生长激素治疗中的作用：来自海湾合作委员会儿科内分泌学家的观点

Frontiers in Endocrinology
IF4.6
2025-10-150
OAAI
Walid Kaplan; Abdullah Alherbish; Abdullah Aljnaibi; Afaf Alsagheir; Angham Almutair; Aqeel Farooque; Asma Deeb; Bassam Bin Abbas; Jamal Al Jubeh; Najya Attia; Nandu Thalange; Sareea Salem Al Remeithi; Paul Dimitri; Octavio Rivera-Romero; Ekaterina Koledova
Adult genomic medicine: lessons from a multisite study of 2700 patients

成人基因组医学：来自一项涉及2700名患者的多中心研究的经验教训

Genome Medicine
IF11.2
2025-09-300
OAAI
Khadijah Bakur; Halima Hamid; Bader Alhaddad; Majid Alfadhel; Amal Alhashem; Wafaa Eyaid; Talal Alanzi; Fuad Al Mutairi; Abdulrahman Alswaid; Farouq Ababneh; Malak Al Ghamdi; Sarar Mohamed; Ahmed Alaskar; Farjah Alqahtani; Hamad Alzaidan; Mohammed Al-Owain; Eissa A. Faqeih; Aziza M. Mushiba; Rola Alanazi; Basamat Almoallem; Norah Saleh Alsaleh; Saeed Al Tala; Muneera Alshammari; Alyazeed Turkistani; Ghadah Gosadi; Fahad Hakami; Fahad Alobaid; Hadeel Al Rukban; Ahmed Alfaidi; Rola Ba-Abbad; Mohammed A. Almuqbil; Ahmad Al-Boukai; Abdulrahman Saad Alamri; Ali Alshehri; Raashda A. Sulaiman; Ali Almontasheri; Enam Danish; Afaf AlSagheir; Deema Aljeaid; Bashayer S. Al-Awam; Aiman Shawli; Maha Al-Otaibi; Wed Sameer Majdali; Zohor Asaad Azher; Mohammed Almannai; Wail Baalawi; Lama AlAbdi; Touati Benoukraf; Fowzan S. Alkuraya
Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort

高近亲结婚人群中纯合子家族性高胆固醇血症：来自沙特队列的见解

Journal of Clinical Lipidology
IF4.6
2025-04-100
PRE
Afaf Alsagheir; Ismail A. Abdullah; Mohammed Albitar; Alhanouf Aljaser; Rahaf Alansari; Anas Ali; Maeen Aldamouni; Ziad Alhosainy; Rojina Mohamed; Heba Jaamour; Raghad Alhuthil; Saad Al-hamoudi; Abdualziz Aldayel; Mohammad Aljumaa; Yara Khamaj; Ali Mcrabi; Meshari Alquayt; Abdullah Al-Ashwal
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, et al. ADAT3变体破坏了ADAT tRNA脱氨酶复合物的活性并损害神经元迁移。Brain: J Neurol. (2025) 148:3407–21. doi: 10.1093/brain/awaf109

Brain
IF11.7
2025-03-220
OAAI
Jordi Del-Pozo-Rodriguez; Peggy Tilly; Romain Lecat; Hugo Rolando Vaca; Laureline Mosser; Elena Brivio; Till Balla; Marina Vitoria Gomes; Elizabeth Ramos-Morales; Noémie Schwaller; Thalia Salinas-Giegé; Grace VanNoy; Eleina M England; Alysia Kern Lovgren; Melanie O’Leary; Maya Chopra; Naomi Meave Ojeda; Mehran Beiraghi Toosi; Atieh Eslahi; Masoome Alerasool; Majid Mojarrad; Lynn S Pais; Rebecca C Yeh; Dustin L Gable; Mais O Hashem; Firdous Abdulwahab; Muath Rakiz Alqurashi; Loai Z Sbeih; Omar Abu Adas Blanco; Renad Abu Khater; Gabriela Oprea; Aboulfazl Rad; Hamad Alzaidan; Hesham Aldhalaan; Ehab Tous; Afaf Alsagheir; Mohammed Alowain; Abdullah Tamim; Khowlah Alfayez; Amal Alhashem; Aisha Alnuzha; Mona Kamel; Bashayer S Al-Awam; Walaa Elnaggar; Nihal Almenabawy; Anne O'Donnell-Luria; Jennifer E Neil; Joseph G Gleeson; Christopher A Walsh; Fowzan S Alkuraya; Lama AlAbdi; Nour Elkhateeb; Laila Selim; Siddharth Srivastava; Danny D Nedialkova; Laurence Drouard; Christophe Romier; Efil Bayam; Juliette D Godin
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-03-130
OAAI
Al Yaarubi, Saif; Alsagheir, Afaf; Al Shidhani, Azza; Alzelaye, Somaya; Alghazir, Nadia; Brema, Imad; Alsaffar, Hussain; Al Dubayee, Mohammed; Alshahrani, Awad; Abdelmeguid, Yasmine; Omar, Omneya M.; Attia, Najya; Al Amiri, Elham; Al Jubeh, Jamal; Algethami, Albandari; Alkhayyat, Haya; Haleem, Azad; Al Yahyaei, Mouza; Khochtali, Ines; Babli, Saleha; Nugud, Ahmed; Thalange, Nandu; Albalushi, Sarah; Hergli, Nadia; Deeb, Asma; Alfadhel, Majid

研究方向

暂未获取到该数据
A
Amal Alhashem
H 指数:38论文数:158被引数:5,311
F
Fowzan S. Alkuraya
H 指数:88论文数:819被引数:2.9万
R
Raghad Alhuthil
H 指数:4论文数:58被引数:76
H
Hamad Alzaidan
H 指数:27论文数:99被引数:2,641
A
Ali S. Alzahrani
H 指数:38论文数:237被引数:6,515
B
Bassam Bin‐Abbas
H 指数:20论文数:71被引数:1,244
M
Mohammed Al‐Owain
H 指数:43论文数:208被引数:7,254
M
Majid Alfadhel
H 指数:45论文数:277被引数:7,729
M
Mohammed Mahnashi
H 指数:5论文数:18被引数:487
D
Dalal Bubshait
H 指数:16论文数:45被引数:1,436