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2021
Fatima, Ambrin, Abdullah, Uzma 
ORCID: 0000-0002-7168-8266, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar ORCID: 0000-0002-2389-3337, Tommerup, Niels and Baig, Shahid M.
(2021).
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.
Genes, 12 (12).
BASEL:
MDPI.
ISSN 2073-4425
2020
Farooq, Muhammad, Lindbaek, Louise, Krogh, Nicolai ORCID: 0000-0001-8870-7091, 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 and Larsen, Lars Allan
(2020).
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
Nat. Commun., 11 (1).
BERLIN:
NATURE RESEARCH.
ISSN 2041-1723
2017
Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J.
(2017).
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Mol. Genet. Genom. Med., 5 (5).
S. 531 - 553.
HOBOKEN:
WILEY.
ISSN 2324-9269
2014
Eisenberger, Tobias, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Baig, Shahid M., Neuhaus, Christine, Beyer, Anke, Decker, Eva, Muerbe, Dirk, Decker, Christian, Bergmann, Carsten and Bolz, Hanno J.
(2014).
Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the DFNA48 Gene, as a Cause of Deafness.
Hum. Mutat., 35 (5).
S. 565 - 571.
HOBOKEN:
WILEY.
ISSN 1098-1004
Khan, Muzammil A., Rupp, Verena M., Orpinell, Meritxell, Hussain, Muhammad S., Altmueller, Janine, Steinmetz, Michel O., Enzinger, Christian, Thiele, Holger, Hoehne, Wolfgang, Nuernberg, Gudrun, Baig, Shahid M., Ansar, Muhammad ORCID: 0000-0001-5891-7063, Nuernberg, Peter, Vincent, John B., Speicher, Michael R., Goenczy, Pierre and Windpassinger, Christian
(2014).
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum. Mol. Genet., 23 (22).
S. 5940 - 5950.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
2013
Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad ORCID: 0000-0001-6127-6308, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Boerger, Doris, Bohring, Axel, Schreml, Julia, Koertge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah ORCID: 0000-0002-0668-1762, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nuernberg, Gudrun, Nuernburg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit and Bolz, Hanno J.
(2013).
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.
PLoS One, 8 (11).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
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