 | Up a level |
2022
Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Honing, Stefan, Baig, Shahid Mahmood, Nurnberg, Peter and Hussain, Muhammad Sajid (2022). A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome (vol 100, pg 486, 2021). Clin. Genet., 101 (2). S. 272 - 273. HOBOKEN: WILEY. ISSN 1399-0004
2021
Kaygusuz, Emrah, Khayyat, Arwa Ishaq A., Abdullah, Uzma, Budde, Birgit Susanne, Asif, Maria, Ahmed, Ilyas, Makhdoom, Ehtisham Ul Haq, Sur-Erdem, Ilknur, Baig, Jamshaid Mahmood, Khan, Muhammad Mohsin Ali, Toliat, Mohammad Reza, Becker, Christian, Anwar, Haseeb, Iqbal, Maria, Fischer, Sarah, Jameel, Muhammad, Sher, Muhammad, Tariq, Muhammad 
ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, Noegel, Angelika A., Hassan, Muhammad Jawad, Thiele, Holger, Tinschert, Sigrid, Eichinger, Ludwig, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid
(2021).
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin. Genet., 100 (4).
S. 486 - 489.
HOBOKEN:
WILEY.
ISSN 1399-0004
Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Hoehne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam ORCID: 0000-0001-5962-2101, Yousaf, Hammad, Ali, Zafar ORCID: 0000-0002-2389-3337, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Anjum, Iram, Altmueller, Janine, Thiele, Holger, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid
(2021).
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Genes, 12 (5).
BASEL:
MDPI.
ISSN 2073-4425
Ramzan, Shafaq, Tennstedt, Stephanie ORCID: 0000-0001-9063-3087, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Sheraz ORCID: 0000-0003-3207-4074, Ul Ayan, Hafiza Noor, Ali, Aamir, Munz, Matthias, Thiele, Holger, Korejo, Asad Aslam, Mughal, Abdul Razzaq, Jamal, Syed Zahid, Nuernberg, Peter, Baig, Shahid Mahmood, Erdmann, Jeanette ORCID: 0000-0002-4486-6231 and Ahmad, Ilyas
(2021).
A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.
Genes, 12 (8).
BASEL:
MDPI.
ISSN 2073-4425
Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Ayaz, Ali, Zafar ORCID: 0000-0002-2389-3337, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf ORCID: 0000-0002-7392-9449, ul Haque, Saif, Altmueller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood and Nuernberg, Peter
(2021).
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Genes, 12 (10).
BASEL:
MDPI.
ISSN 2073-4425
2020
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, ul Haque, Saif, Mir, Asif, Anjum, Iram ORCID: 0000-0002-9015-3179, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter and Hussain, Muhammad Sajid
(2020).
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Mol. Genet. Genom. Med., 8 (9).
HOBOKEN:
WILEY.
ISSN 2324-9269
2017
Sukumaran, Salil K., Stumpf, Maria, Salamon, Sarah, Ahmad, Ilyas, Bhattacharya, Kurchi, Fischer, Sarah ORCID: 0000-0001-6227-3950, Mueller, Rolf, Altmueller, Janine, Budde, Birgit, Thiele, Holger, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Malik, Naveed Altaf, Nuernberg, Peter, Baig, Shahid Mahmood, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Noegel, Angelika A.
(2017).
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
Mol. Genet. Genomics, 292 (2).
S. 365 - 384.
HEIDELBERG:
SPRINGER HEIDELBERG.
ISSN 1617-4623
2013
Hussain, Muhammad S., Baig, Shahid M., Neumann, Sascha, Peche, Vivek S., Szczepanski, Sandra, Nuernberg, Gudrun, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Jameel, Muhammad, Khan, Tahir N., Fatima, Ambrin, Malik, Naveed A., Ahmad, Ilyas, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Thiele, Holger, Hoehne, Wolfgang, Yigit, Goekhan, Wollnik, Bernd, Neubauer, Bernd A., Nuernberg, Peter and Noegel, Angelika A.
(2013).
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hum. Mol. Genet., 22 (25).
S. 5199 - 5215.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083