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2022
Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Hoehne, Wolfgang, Altmueller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nuernberg, Peter, Graul-Neumann, Luitgard and Hussain, Muhammad Sajid (2022). A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am. J. Med. Genet. A, 188 (4). S. 1251 - 1259. HOBOKEN: WILEY. ISSN 1552-4833
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
Iqbal, Maria, Maroofian, Reza, Cavdarli, Busranur, Riccardi, Florence 
ORCID: 0000-0002-7223-2172, Field, Michael, Banka, Siddharth ORCID: 0000-0002-8527-2210, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Abdullah, Uzma ORCID: 0000-0002-7168-8266, Makhdoom, Ehtisham Ul Haq, Ali, Zafar ORCID: 0000-0002-2389-3337, de Almeida, Tobias Scherf, Molinari, Florence ORCID: 0000-0001-5111-7215, Mignon-Ravix, Cecile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara ORCID: 0000-0002-6719-3447, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz ORCID: 0000-0003-3207-4074, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit ORCID: 0000-0001-9385-4168, Altmueller, Janine, Motameny, Susanne, Hoehne, Wolfgang, Houlden, Henry, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Villard, Laurent ORCID: 0000-0001-6657-5008, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 and Yigit, Gokhan ORCID: 0000-0003-2777-0198
(2021).
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet. Med., 23 (11).
S. 2138 - 2150.
LONDON:
SPRINGERNATURE.
ISSN 1530-0366
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
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