Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
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, Höhne, Wolfgang, Noegel, Angelika Anna, Al‐Owain, Mohammed, Hörtnagel, Konstanze, Stöbe, Petra, Baig, Shahid Mahmood, Nürnberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas, Hussain, Muhammad Sajid
Published in Annals of neurology (01.10.2017)
Published in Annals of neurology (01.10.2017)
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Journal Article
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly
Asif, Maria, Abdullah, Uzma, Nürnberg, Peter, Tinschert, Sigrid, Hussain, Muhammad Sajid
Published in Cells (Basel, Switzerland) (01.02.2023)
Published in Cells (Basel, Switzerland) (01.02.2023)
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Journal Article
Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features
Ali, Zafar, Zulfiqar, Shumaila, Klar, Joakim, Wikström, Johan, Ullah, Farid, Khan, Ayaz, Abdullah, Uzma, Baig, Shahid, Dahl, Niklas
Published in BMC medical genetics (06.12.2017)
Published in BMC medical genetics (06.12.2017)
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Journal Article
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family
Szczepanski, Sandra, Hussain, Muhammad Sajid, Sur, Ilknur, Altmüller, Janine, Thiele, Holger, Abdullah, Uzma, Waseem, Syeda Seema, Moawia, Abubakar, Nürnberg, Gudrun, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter
Published in Human genetics (01.02.2016)
Published in Human genetics (01.02.2016)
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Journal Article
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
Gauhar, Zeeshan, Tejwani, Leon, Abdullah, Uzma, Saeed, Sadia, Shafique, Shagufta, Badshah, Mazhar, Choi, Jungmin, Dong, Weilai, Nelson-Williams, Carol, Lifton, Richard P, Lim, Janghoo, Raja, Ghazala K
Published in Cells (Basel, Switzerland) (30.09.2022)
Published in Cells (Basel, Switzerland) (30.09.2022)
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Journal Article
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
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Journal Article
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency
Jameel, Muhammad, Klar, Joakim, Tariq, Muhammad, Moawia, Abubakar, Altaf Malik, Naveed, Seema Waseem, Syeda, Abdullah, Uzma, Naeem Khan, Tahir, Raininko, Raili, Baig, Shahid Mahmood, Dahl, Niklas
Published in BMC genetics (14.12.2014)
Published in BMC genetics (14.12.2014)
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Journal Article
TRANSABDOMINAL ULTRASONOGRAPHY IN STAGING OF WILMS TUMOR
Ali, Humaira, Abdullah, Uzma, Shahid, Rahat, Qamar, Khadija
Published in Pakistan Armed Forces medical journal (30.04.2018)
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Published in Pakistan Armed Forces medical journal (30.04.2018)
Journal Article
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
Rasool, Sajida, Baig, Jamshaid Mahmood, Moawia, Abubakar, Ahmad, Ilyas, Iqbal, Maria, Waseem, Syeda Seema, Asif, Maria, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Kaygusuz, Emrah, Zakaria, Muhammad, Ramzan, Shafaq, Haque, Saif ul, Mir, Asif, Anjum, Iram, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid
Published in Molecular genetics & genomic medicine (01.09.2020)
Published in Molecular genetics & genomic medicine (01.09.2020)
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Journal Article
Genome-Wide Supported Risk Variants in MIR137 , CACNA1C , CSMD1 , DRD2 , and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population
Fatima, Ambrin, Farooq, Muhammad, Abdullah, Uzma, Tariq, Muhammad, Mustafa, Tanveer, Iqbal, Muhammad, Tommerup, Niels, Mahmood Baig, Shahid
Published in Psychiatry investigation (01.09.2017)
Published in Psychiatry investigation (01.09.2017)
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Journal Article
Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population
Ambrin Fatima, Muhammad Farooq, Uzma Abdullah, Muhammad Tariq, Tanveer Mustafa, Muhammad Iqbal, Niels Tomm
Published in Psychiatry investigation (30.09.2017)
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Published in Psychiatry investigation (30.09.2017)
Journal Article
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families
Ilyas, Muhammad, Tariq, Faiza, Ishaq, Rafaqat, Habiba, Umme, Bibi, Farah, Khan, Sadiq Noor, Ali, Yasir, Haider, Shehzad, Efthymiou, Stephanie, Abdullah, Uzma, Raja, Ghazala Kaukab, Shaiq, Pakeeza Arzoo
Published in Epilepsy research (01.03.2024)
Published in Epilepsy research (01.03.2024)
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Journal Article
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects
Werren, Elizabeth A, Rodriguez Bey, Guillermo, Majethia, Purvi, Kaur, Parneet, Patil, Siddaramappa J, Kekatpure, Minal, Afenjar, Alexandra, Qebibo, Leila, Burglen, Lydie, Tomoum, Hoda, Demurger, Florence, Duborg, Christele, Siddiqui, Shahyan, Tsan, Yao-Chang, Abdullah, Uzma, Ali, Zafar, Saadi, Saadia Maryam, Baig, Shahid Mahmood, Houlden, Henry, Maroofian, Reza, Padiath, Quasar Saleem, Bielas, Stephanie L, Shukla, Anju
Published in Brain (London, England : 1878) (18.09.2024)
Published in Brain (London, England : 1878) (18.09.2024)
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Journal Article
Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy
Ilyas, Muhammad, Holzwarth, Dorothea, Ishaq, Rafaqat, Ali, Yasir, Habiba, Umme, Raja, Asad Mehmood, Saeed, Sadia, Abdullah, Uzma, Khan, Sadiq Noor, Ullah, Ata, Raja, Ghazala Kaukab, Baig, Shahid Mehmood, Fazeli, Walid, Kunz, Wolfram S., Shaiq, Pakeeza Arzoo
Published in Seizure (London, England) (01.03.2024)
Published in Seizure (London, England) (01.03.2024)
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Journal Article
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
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-López, Casimiro, Liik, Maarika, Jin, Zhe, Birnir, Bryndis, Matsumoto, Naomichi, Baig, Shahid M., Klar, Joakim, Dahl, Niklas
Published in American journal of human genetics (01.04.2021)
Published in American journal of human genetics (01.04.2021)
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Journal Article
Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family
Zulfiqar, Shumaila, Tariq, Muhammad, Ramzan, Shafaq, Khan, Ayaz, Sher, Muhammad, Ali, Zafar, Dahl, Niklas, Abdullah, Uzma, Mahmood Baig, Shahid
Published in Journal of clinical neuroscience (01.12.2021)
Published in Journal of clinical neuroscience (01.12.2021)
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Journal Article
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Asif, Maria, Khayyat, Arwa Ishaq A., Alawbathani, Salem, Abdullah, Uzma, Sanner, Anne, Georgomanolis, Theodoros, Haasters, Judith, Becker, Kerstin, Budde, Birgit, Becker, Christian, Thiele, Holger, Baig, Shahid M., Isidoro-García, María, Winter, Dominic, Pogoda, Hans-Martin, Muhammad, Sajjad, Hammerschmidt, Matthias, Kraft, Florian, Kurth, Ingo, Martin, Hilario Gomez, Wagner, Matias, Nürnberg, Peter, Hussain, Muhammad Sajid
Published in Genetics in medicine (01.07.2024)
Published in Genetics in medicine (01.07.2024)
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Journal Article
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
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-López, Casimiro, Liik, Maarika, Jin, Zhe, Birnir, Bryndis, Matsumoto, Naomichi, Baig, Shahid M., Klar, Joakim, Dahl, Niklas
Published in American journal of human genetics (03.03.2022)
Published in American journal of human genetics (03.03.2022)
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