Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models von Batool, Tahira, Irshad, Saba, Riaz, Muhammad, Mahmood Baig, Shahid, Nuernberg, Peter, Hussain, Muhammad Sajid

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A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function von Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Neumann, Sascha, Nürnberg, Gudrun, Farooq, Muhammad, Ahmad, Ilyas, Alef, Thomas, Hennies, Hans Christian, Technau, Martin, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Noegel, Angelika Anna, Nürnberg, Peter

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Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability von Hansen, Lars, Tawamie, Hasan, Murakami, Yoshiko, Mang, Yuan, ur Rehman, Shoaib, Buchert, Rebecca, Schaffer, Stefanie, Muhammad, Safia, Bak, Mads, Nöthen, Markus M., Bennett, Eric P., Maeda, Yusuke, Aigner, Michael, Reis, André, Kinoshita, Taroh, Tommerup, Niels, Baig, Shahid Mahmood, Abou Jamra, Rami

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Role of cholesterol and sphingolipids in brain development and neurological diseases von Hussain, Ghulam, Wang, Jing, Rasul, Azhar, Anwar, Haseeb, Imran, Ali, Qasim, Muhammad, Zafar, Shamaila, Kamran, Syed Kashif Shahid, Razzaq, Aroona, Aziz, Nimra, Ahmad, Waseem, Shabbir, Asghar, Iqbal, Javed, Baig, Shahid Mahmood, Sun, Tao

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A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families von Akram, Rabia, Baig, Shahid Mahmood, Anwar, Haseeb, Hussain, Ghulam

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Genome-Wide Supported Risk Variants in MIR137 , CACNA1C , CSMD1 , DRD2 , and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population von Fatima, Ambrin, Farooq, Muhammad, Abdullah, Uzma, Tariq, Muhammad, Mustafa, Tanveer, Iqbal, Muhammad, Tommerup, Niels, Mahmood Baig, Shahid

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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy von Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Daire, Valérie Cormier, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P

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The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans von Ahmad, Ilyas, Lokau, Juliane, Kespohl, Birte, Malik, Naveed Altaf, Baig, Shahid Mahmood, Hartig, Roland, Behme, Daniel, Schwab, Roland, Altmüller, Janine, Jameel, Muhammad, Mucha, Sören, Thiele, Holger, Tariq, Muhammad, Nürnberg, Peter, Erdmann, Jeanette, Garbers, Christoph

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Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families von Zhou, Yingjie, Tariq, Muhammad, He, Sijie, Abdullah, Uzma, Zhang, Jianguo, Baig, Shahid Mahmood

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Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family von Zulfiqar, Shumaila, Tariq, Muhammad, Ramzan, Shafaq, Khan, Ayaz, Sher, Muhammad, Ali, Zafar, Dahl, Niklas, Abdullah, Uzma, Mahmood Baig, Shahid

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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis von 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

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Compound heterozygous ASPM mutations in Pakistani MCPH families von Muhammad, Farooq, Mahmood Baig, Shahid, Hansen, Lars, Sajid Hussain, Muhammad, Anjum Inayat, Iram, Aslam, Muhammad, Anver Qureshi, Javed, Toilat, Muhammad, Kirst, Elisabeth, Wajid, Muhammad, Nürnberg, Peter, Eiberg, Hans, Tommerup, Niels, Kjaer, Klaus W.

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A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family von Akram, Rabia, Anwar, Haseeb, Muzaffar, Humaira, Turchetti, Valentina, Lau, Tracy, Vona, Barbara, Makhdoom, Ehtisham Ul Haq, Iqbal, Javed, Mahmood Baig, Shahid, Hussain, Ghulam, Efthymiou, Stephanie, Houlden, Henry

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Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review von Zhang, Wei, Tariq, Muhammad, Roy, Bhaskar, Shen, Juan, Khan, Ayaz, Altaf Malik, Naveed, He, Sijie, Baig, Shahid Mahmood, Fang, Xiaodong, Zhang, Jianguo

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WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome von Nawaz, Sadia, Klar, Joakim, Wajid, Muhammad, Aslam, Muhammad, Tariq, Muhammad, Schuster, Jens, Baig, Shahid Mahmood, Dahl, Niklas

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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family von 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

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Sensitive detection of pre-existing BCR-ABL kinase domain mutations in CD34+ cells of newly diagnosed chronic-phase chronic myeloid leukemia patients is associated with imatinib re... von Iqbal, Zafar, Aleem, Aamer, Iqbal, Mudassar, Naqvi, Mubashar Iqbal, Gill, Ammara, Taj, Abid Sohail, Qayyum, Abdul, ur-Rehman, Najeeb, Khalid, Ahmad Mukhtar, Shah, Ijaz Hussain, Khalid, Muhammad, Haq, Riazul, Khan, Mahwish, Baig, Shahid Mahmood, Jamil, Abid, Abbas, Muhammad Naeem, Absar, Muhammad, Mahmood, Amer, Rasool, Mahmood, Akhtar, Tanveer

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan von 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

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A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family von Farooq, Muhammad, Fatima, Ambrin, Mang, Yuan, Hansen, Lars, Kjaer, Klaus Wilbrandt, Baig, Shahid Mahmood, Larsen, Lars Allan, Tommerup, Niels

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A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family von Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Marriam Bakhtiar, Syeda, Fatima, Ambrin, Hansen, Lars, Kjaer, Klaus Wilbrandt, Larsen, Lars Allan, Faryal, Sanam, Tommerup, Niels, Mahmood Baig, Shahid

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