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Amal Alhashem

college of medicine, alfaisal university , riyadh 11533 ,
H指数:38
被引数:5,233

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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.
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
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
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
AMERICAN JOURNAL OF NEURORADIOLOGY
IF3.7
2024-08-150
PRE
Neeman, Bar; Sudhakar, Sniya; Biswas, Asthik; Rosenblum, Jessica; Sidpra, Jai; D'Arco, Felice; Lobel, Ulrike; Gomez-Chiari, Marta; Serrano, Mercedes; Bolasell, Merce; Reddy, Kartik; Ben-Sira, Liat; Zakzouk, Reem; Al-Hashem, Amal; Mirsky, David M.; Patel, Rajan; Radhakrishnan, Rupa; Shekdar, Karuna; Whitehead, Matthew T.; Mankad, Kish
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-08-0111
OAAI
Rosenhahn, Erik; O'Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Nasab, Mahya Ebrahimi; Hussien, Haytham; Omar, Tarek E., I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M. H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E. X.; Maroofian, Reza; Platzer, Konrad
The morbid genome of ciliopathies: an update (vol 22, pg 1051, 2021)
GENETICS IN MEDICINE
IF6.2
2022-04-015
OA
Shamseldin, Hanan E.; Shaheen, Ranad; Ewida, Nour; Bubshait, Dalal K.; Alkuraya, Hisham; Almardawi, Elham; Howaidi, Ali; Sabr, Yasser; Abdalla, Ebtesam M.; Alfaifi, Abdullah Y.; Alghamdi, Jameel Mohammed; Alsagheir, Afaf; Alfares, Ahmed; Morsy, Heba; Hussein, Maged H.; Al-Muhaizea, Mohammad A.; Shagrani, Mohammad; Al Sabban, Essam; Salih, Mustafa A.; Meriki, Neama; Khan, Rubina; Almugbel, Maisoon; Qari, Alya; Tulba, Maha; Mahnashi, Mohammed; Alhazmi, Khalid; Alsalamah, Abrar K.; Nowilaty, Sawsan R.; Alhashem, Amal; Hashem, Mais; Abdulwahab, Firdous; Ibrahim, Niema; Alshidi, Tarfa; AlObeid, Eman; Alenazi, Mona M.; Alzaidan, Hamad; Rahbeeni, Zuhair; Al-Owain, Mohammed; Sogaty, Sameera; Seidahmed, Mohammed Zain; Alkuraya, Fowzan S.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
BRAIN
IF11.7
2021-10-0417
OA
Marafi, Dana; Fatih, Jawid M.; Kaiyrzhanov, Rauan; Ferla, Matteo P.; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S.; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M.; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A.; Mullegama, Sureni, V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S.; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Akdemir, Zeynep Coban; Gibbs, Richard A.; Taylor, Jenny C.; Fakhro, Khalid A.; Hunter, Jill, V; Pehlivan, Davut; Zaki, Maha S.; Gleeson, Joseph G.; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E.; Sutton, V. Reid; Alkuraya, Fowzan S.; Elsea, Sarah H.; Lupski, James R.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
GENETICS IN MEDICINE
IF6.2
2021-10-0117
OAAI
Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernandez, Hector Adrian Diaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Fowler, Ben; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders
GENETICS IN MEDICINE
IF6.2
2021-08-0137
OAAI
Bertoli-Avella, Aida M.; Kandaswamy, Krishna K.; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patricia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A.; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N.; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S.; Huning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S.; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M.; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy
CIRCULATION-GENOMIC AND PRECISION MEDICINE
IF5.5
2020-10-0123
OAAI
Al-Hassnan, Zuhair N.; Almesned, Abdulrahman; Tulbah, Sahar; Alakhfash, Ali; Alhadeq, Faten; Alruwaili, Nadiah; Alkorashy, Maarab; Alhashem, Amal; Alrashdan, Ahmad; Faqeih, Eissa; Alkhalifi, Salwa M.; Al Humaidi, Zainab; Sogaty, Sameera; Azhari, Nawal; Bakhaider, Abdulrahman M.; Al Asmari, Ali; Awaji, Ali; Albash, Buthaina; Alhabdan, Mohammed; Alghamdi, Malak A.; Alshuaibi, Walaa; Al-Hassnan, Raghad Z.; Alshenqiti, Abduljabbar; Alqahtani, Aisha; Shinwari, Zarghuna; Rbabeh, Monther; Takroni, Saud; Alomrani, Ahmed; Albert Brotons, Dimpna C.; AlQwaee, Abdullah M.; Almanea, Waleed; Alfadley, Fadel A.; Alfayyadh, Majid; Alwadai, Abdullah
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2020-08-2879
OAAI
Bertoli-Avella, Aida M.; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K.; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurascu, Marius-Ionut; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M.; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A.; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter

研究方向

暂未获取到该数据
F
Fowzan S. Alkuraya
H 指数:88论文数:819被引数:2.9万
B
Brahim Tabarki
H 指数:36论文数:165被引数:4,031
R
Ranad Shaheen
H 指数:57论文数:130被引数:8,292
M
Majid Alfadhel
H 指数:45论文数:277被引数:7,653
H
Hanan E. Shamseldin
H 指数:43论文数:114被引数:5,292
M
Mais Hashem
H 指数:43论文数:220被引数:5,532
E
Eissa Faqeih
H 指数:51论文数:184被引数:7,557
F
Firdous Abdulwahab
H 指数:31论文数:145被引数:3,814
N
Niema Ibrahim
H 指数:31论文数:104被引数:3,377
D
Dorota Monies
H 指数:39论文数:125被引数:5,173