Epigenetic regulation of HIV-1 latency: focus on polycomb group (PcG) proteins

por Khan, Sheraz, Iqbal, Mazhar, Tariq, Muhammad, Baig, Shahid M., Abbas, Wasim
Publicado 2018

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family

por Yousaf, Hammad, Fatima, Ambrin, Ali, Zafar, Baig, Shahid M., Toft, Mathias, Iqbal, Zafar
Publicado 2022

Frizzled6 deficiency disrupts the differentiation process of nail development

por Cui, Chang-Yi, Klar, Joakim, Georgii-Heming, Patrik, Fröjmark, Anne-Sophie, Baig, Shahid M., Schlessinger, David, Dahl’, Niklas
Publicado 2013

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

por Khan, Tahir Naeem, Klar, Joakim, Nawaz, Sadia, Jameel, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Baig, Shahid M, Dahl, Niklas
Publicado 2012

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

por Kellaris, Georgios, Khan, Kamal, Baig, Shahid M., Tsai, I-Chun, Zamora, Francisca Millan, Ruggieri, Paul, Natowicz, Marvin R., Katsanis, Nicholas
Publicado 2018

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families

por Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar, Tommerup, Niels, Baig, Shahid M.
Publicado 2021

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

por Klar, Joakim, Piontek, Jörg, Milatz, Susanne, Tariq, Muhammad, Jameel, Muhammad, Breiderhoff, Tilman, Schuster, Jens, Fatima, Ambrin, Asif, Maria, Sher, Muhammad, Mäbert, Katrin, Fromm, Anja, Baig, Shahid M., Günzel, Dorothee, Dahl, Niklas
Publicado 2017

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

por Asif, Maria, Anayat, Maryam, Tariq, Faiza, Noureen, Tanzeela, Din, Ghulam Naseer Ud, Becker, Christian, Becker, Kerstin, Thiele, Holger, Makhdoom, Ehtisham ul Haq, Shaiq, Pakeeza Arzoo, Baig, Shahid M., Nürnberg, Peter, Hussain, Muhammad Sajid, Raja, Ghazala Kaukab, Abdullah, Uzma
Publicado 2022

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

por Farooq, Muhammad, Lindbæk, Louise, Krogh, Nicolai, Doganli, Canan, Keller, Cecilie, Mönnich, Maren, Gonçalves, André Brás, Sakthivel, Srinivasan, Mang, Yuan, Fatima, Ambrin, Andersen, Vivi Søgaard, Hussain, Muhammad S., Eiberg, Hans, Hansen, Lars, Kjaer, Klaus Wilbrandt, Gopalakrishnan, Jay, Pedersen, Lotte Bang, Møllgård, Kjeld, Nielsen, Henrik, Baig, Shahid. M., Tommerup, Niels, Christensen, Søren Tvorup, Larsen, Lars Allan
Publicado 2020

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

por 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
Publicado 2021

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

por 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
Publicado 2022

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...

por Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller‐Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel‐Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.
Publicado 2017

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

por Khan, Kamal, Zech, Michael, Morgan, Angela T., Amor, David J., Skorvanek, Matej, Khan, Tahir N., Hildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Coleman, Matthew, Rigbye, Kristin A., Scheffer, Ingrid E., Bahlo, Melanie, Wagner, Matias, Lam, Daniel D., Berutti, Riccardo, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Han, Vladimir, Dosekova, Petra, Gdovinova, Zuzana, Laccone, Franco, Jameel, Muhammad, Mooney, Marie R., Baig, Shahid M., Jech, Robert, Davis, Erica E., Katsanis, Nicholas, Winkelmann, Juliane
Publicado 2019

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

por Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J.
Publicado 2013

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

por Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.
Publicado 2020