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

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Imbalance between Neutrophil Elastase and its Inhibitor α1-Antitrypsin in Obesity Alters Insulin Sensitivity, Inflammation, and Energy Expenditure von Mansuy-Aubert, Virginie, Zhou, Qiong L., Xie, Xiangyang, Gong, Zhenwei, Huang, Jun-Yuan, Khan, Abdul R., Aubert, Gregory, Candelaria, Karla, Thomas, Shantele, Shin, Dong-Ju, Booth, Sarah, Baig, Shahid M., Bilal, Ahmed, Hwang, Daehee, Zhang, Hui, Lovell-Badge, Robin, Smith, Steven R., Awan, Fazli R., Jiang, Zhen Y.

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

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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 von Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O, Decker, Christian, Preising, Markus N, Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Charbel Issa, Peter, 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

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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy von 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.

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Abolished InsP3R2 function inhibits sweat secretion in both humans and mice von Klar, Joakim, Hisatsune, Chihiro, Baig, Shahid M, Tariq, Muhammad, Johansson, Anna C V, Rasool, Mahmood, Malik, Naveed Altaf, Ameur, Adam, Sugiura, Kotomi, Feuk, Lars, Mikoshiba, Katsuhiko, Dahl, Niklas

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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family von Khan, Muzammil A, Rupp, Verena M, Orpinell, Meritxell, Hussain, Muhammad S, Altmüller, Janine, Steinmetz, Michel O, Enzinger, Christian, Thiele, Holger, Höhne, Wolfgang, Nürnberg, Gudrun, Baig, Shahid M, Ansar, Muhammad, Nürnberg, Peter, Vincent, John B, Speicher, Michael R, Gönczy, Pierre, Windpassinger, Christian

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Epigenetic regulation of HIV-1 latency: focus on polycomb group (PcG) proteins von Khan, Sheraz, Iqbal, Mazhar, Tariq, Muhammad, Baig, Shahid M, Abbas, Wasim

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A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features von Kellaris, Georgios, Khan, Kamal, Baig, Shahid M, Tsai, I-Chun, Zamora, Francisca Millan, Ruggieri, Paul, Natowicz, Marvin R, Katsanis, Nicholas

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Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia von FRÖJMARK, Anne-Sophie, SCHUSTER, Jens, DAHL, Niklas, SOBOL, Maria, ENTESARIAN, Miriam, KILANDER, Michaela B. C, GABRIKOVA, Dana, NAWAZ, Sadia, BAIG, Shahid M, SCHULTE, Gunnar, KLAR, Joakim

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Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele von Akram, Talia, Fatima, Ambrin, Klar, Joakim, Hoeber, Jan, Zakaria, Muhammad, Tariq, Muhammad, Baig, Shahid M., Schuster, Jens, Dahl, Niklas

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Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development von Cui, Chang-Yi, Klar, Joakim, Georgii-Heming, Patrik, Fröjmark, Anne-Sophie, Baig, Shahid M., Schlessinger, David, Dahl, Niklas

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Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I) von Khan, Tahir Naeem, Klar, Joakim, Nawaz, Sadia, Jameel, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Baig, Shahid M, Dahl, Niklas

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Loss of Ca v 1.3 ( CACNA1D ) function in a human channelopathy with bradycardia and congenital deafness von Striessnig, Jörg, Bolz, Hanno J, Baig, Shahid M, Koschak, Alexandra, Lieb, Andreas, Gebhart, Mathias, Dafinger, Claudia, Nürnberg, Gudrun, Ali, Amjad, Ahmad, Ilyas, Sinnegger-Brauns, Martina J, Brandt, Niels, Engel, Jutta, Mangoni, Matteo E, Farooq, Muhammad, Khan, Habib U, Nürnberg, Peter

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Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness von Baig, Shahid M, Koschak, Alexandra, Lieb, Andreas, Gebhart, Mathias, Dafinger, Claudia, Nürnberg, Gudrun, Ali, Amjad, Ahmad, Ilyas, Sinnegger-Brauns, Martina J, Brandt, Niels, Engel, Jutta, Mangoni, Matteo E, Farooq, Muhammad, Khan, Habib U, Nürnberg, Peter, Striessnig, Jörg, Bolz, Hanno J

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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss von Ullah, Farid, Rauf, Waqar, Khan, Kamal, Khan, Sheraz, Bell, Katrina M., de Oliveira, Vanessa Cristina, Tariq, Muhammad, Bakhshalizadeh, Shabnam, Touraine, Philippe, Katsanis, Nicholas, Sinclair, Andrew, He, Sijie, Tucker, Elena J., Baig, Shahid M., Davis, Erica E.

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

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A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability von Yousaf, Hammad, Rehmat, Shagufta, Jameel, Muhammad, Ibrahim, Rabab, Hashmi, Sohana Nadeem, Makhdoom, Ehtisham Ul Haq, Iwaszkiewicz, Justyna, Saadi, Saadia Maryam, Tariq, Muhammad, Baig, Shahid M., Toft, Mathias, Fatima, Ambrin, Iqbal, Zafar

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A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family von Yousaf, Hammad, Fatima, Ambrin, Ali, Zafar, Baig, Shahid M, Toft, Mathias, Iqbal, Zafar

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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia von Asif, Maria, Khayyat, Arwa Ishaq A., Alawbathani, Salem, Abdullah, Uzma, Sanner, Anne, Georgomanolis, Theodoros, Haasters, Judith, Becker, Kerstin, Budde, Birgit, Becker, Christian, Thiele, Holger, Baig, Shahid M., Isidoro-García, María, Winter, Dominic, Pogoda, Hans-Martin, Muhammad, Sajjad, Hammerschmidt, Matthias, Kraft, Florian, Kurth, Ingo, Martin, Hilario Gomez, Wagner, Matias, Nürnberg, Peter, Hussain, Muhammad Sajid

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