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Ambrin Fatima

the aga khan university
H指数:13
被引数:712

个人简介

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教育背景

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工作经历

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荣誉奖项

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Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings

资源有限环境下对肢体带型肌营养不良症的综合性诊断方法

Human Mutation
IF3.7
2026-10-030
OAAI
Hammad Yousaf; Lubaba Bintee Khalid; Affan Ahmed; Rafia Zafar Ghumman; Shaheer Hassan; Hijab Zahra; Ghazala Zafar; Kinza Rubab; Hazaratullah Azakai; Haq Nawaz Khan; Qamar Mahmood; Asmat Ali; Bilal Ahmad Mian; Zafar Ali; Mohammad Raza; Sanam Bano; Khairunnisa Mukhtiar; Uzma Abdullah; Shahnaz H. Ibrahim; Shahid M. Baig; Mathias Toft; Salman Kirmani; Zafar Iqbal; Ambrin Fatima
Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature

在一个近亲婚配家庭中早期发作癫痫患者中鉴定出一个新型纯合SCN1B剪接位点变异：病例系列及文献综述

Molecular Genetics & Genomic Medicine
IF1.6
2026-04-270
OAAI
Muhammad, Anees; Ramzan, Shafaq; Yousaf, Hammad; Ghumman, Rafia Zafar; Ali, Farhan Bahadar; Khalily, Muhammad Athar; Ali, Asmat; Ali, Wajid; Zia, Salma; Khan, Najeeb Ullah; Sarwar, Muhammad Tahir; Toft, Matias; Iqbal, Zafar; Fatima, Ambrin
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management

扩展HACE1基因失活变异谱以引发复杂痉挛性截瘫：文献综述及临床管理建议

Human Genomics
IF4.3
2026-02-110
OAAI
Hammad Yousaf; Sajid Ali; Ahad Yousuf Moulvi; Lubaba Bintee Khalid; Iram Javed; Rafia Zafar Ghumman; Cindy Colson; Shahnaz Ibrahim; Salma Zia; Muhammad Musawer Khan; Perrine Brunelle; Juan Pablo Trujillo-Quintero; Anna Ruiz; Salman Kirmani; Henry Houlden; Mathias Toft; Ambrin Fatima; Zafar Iqbal
Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield

巴基斯坦男性不育队列的外显子测序：分子诊断、遗传异质性和诊断产率的视角

MOLECULAR GENETICS AND GENOMICS
IF2.1
2025-09-040
PRE
Zhou, Dapeng; Fatima, Ambrin; Ahmed, Afrasiab; Afridi, Tehseen Ullah Khan; Khan, Haq Nawaz; Ashraf, Mussarat; Naeem, Muhammad; Jamal, Syed Babar; Hassan, Ishtiaq; Davis, Erica E.; Zhang, Feng; Rehman, Rehana; Liu, Chunyu; Khan, Tahir N.
Response to Haliloğlu et al

对Haliloğlu等人的回应

Genetics in Medicine
IF6.2
2025-08-050
PRE
Lettie E. Rawlins; Stuart J. Cannon; Bilal Ahmad Mian; Farhan Bahadar Ali; Shahnaz Ibrahim; Mathias Toft; Ambrin Fatima; Zafar Iqbal; Emma L. Baple; Andrew H. Crosby
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism

基因组测序揭示了患有先天性低促性腺激素性性腺功能减退症的巴基斯坦家庭中新的致病结构和单核苷酸变异

BMC GENOMICS
IF3.7
2024-08-141
OAAI
Zouaghi, Yassine; Choudhary, Anbreen Mazhar; Irshad, Saba; Adamo, Michela; Rehman, Khaleeq ur; Fatima, Ambrin; Shahid, Mariam; Najmi, Nida; Correa, Fernanda De Azevedo; Habibi, Imen; Boizot, Alexia; Niederlander, Nicolas J.; Ansar, Muhammad; Santoni, Federico; Acierno, James; Pitteloud, Nelly
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (vol 108, pg 739, 2021)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-03-010
OAAI
Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-04-0116
OAAI
Fatima, Ambrin; Hoeber, Jan; Schuster, Jens; Koshimizu, Eriko; Maya-Gonzalez, Carolina; Keren, Boris; Mignot, Cyril; Akram, Talia; Ali, Zafar; Miyatake, Satoko; Tanigawa, Junpei; Koike, Takayoshi; Kato, Mitsuhiro; Murakami, Yoshiko; Abdullah, Uzma; Ali, Muhammad Akhtar; Fadoul, Rein; Laan, Loora; Castillejo-Lopez, Casimiro; Liik, Maarika; Jin, Zhe; Birnir, Bryndis; Matsumoto, Naomichi; Baig, Shahid M.; Klar, Joakim; Dahl, Niklas
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
NATURE COMMUNICATIONS
IF15.7
2020-11-1636
OAAI
Farooq, Muhammad; Lindbaek, Louise; Krogh, Nicolai; Doganli, Canan; Keller, Cecilie; Monnich, Maren; Goncalves, Andre Bras; Sakthivel, Srinivasan; Mang, Yuan; Fatima, Ambrin; Andersen, Vivi Sogaard; Hussain, Muhammad S.; Eiberg, Hans; Hansen, Lars; Kjaer, Klaus Wilbrandt; Gopalakrishnan, Jay; Pedersen, Lotte Bang; Mollgard, Kjeld; Nielsen, Henrik; Baig, Shahid M.; Tommerup, Niels; Christensen, Soren Tvorup; Larsen, Lars Allan
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
ANNALS OF NEUROLOGY
IF7.7
2017-10-1467
PREAI
Moawia, Abubakar; Shaheen, Ranad; Rasool, Sajida; Waseem, Syeda Seema; Ewida, Nour; Budde, Birgit; Kawalia, Amit; Motameny, Susanne; Khan, Kamal; Fatima, Ambrin; Jameel, Muhammad; Ullah, Farid; Akram, Talia; Ali, Zafar; Abdullah, Uzma; Irshad, Saba; Hoehne, Wolfgang; Noegel, Angelika Anna; Al-Owain, Mohammed; Hoertnagel, Konstanze; Stoebe, Petra; Baig, Shahid Mahmood; Nuernberg, Peter; Alkuraya, Fowzan Sami; Hahn, Andreas; Hussain, Muhammad Sajid
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
HUMAN MOLECULAR GENETICS
IF3.2
2013-08-04100
OAAI
Hussain, Muhammad S.; Baig, Shahid M.; Neumann, Sascha; Peche, Vivek S.; Szczepanski, Sandra; Nuernberg, Gudrun; Tariq, Muhammad; Jameel, Muhammad; Khan, Tahir N.; Fatima, Ambrin; Malik, Naveed A.; Ahmad, Ilyas; Altmueller, Janine; Frommolt, Peter; Thiele, Holger; Hoehne, Wolfgang; Yigit, Goekhan; Wollnik, Bernd; Neubauer, Bernd A.; Nuernberg, Peter; Noegel, Angelika A.

研究方向

暂未获取到该数据
S
Shahid Mahmood Baig
H 指数:36论文数:170被引数:4,788
N
Niklas Dahl
H 指数:62论文数:354被引数:1.5万
J
Joakim Klar
H 指数:32论文数:131被引数:4,238
Z
Zafar Ali
H 指数:16论文数:60被引数:1,069
J
Jens Schuster
H 指数:22论文数:86被引数:1,605
U
Uzma Abdullah
H 指数:14论文数:58被引数:610
H
Hammad Yousaf
H 指数:5论文数:14被引数:71
T
Talia Akram
H 指数:5论文数:12被引数:137
M
Muhammad Jameel
H 指数:17论文数:47被引数:1,026
J
Jan Hoeber
H 指数:10论文数:34被引数:318