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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Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly von Asif, Maria, Abdullah, Uzma, Nürnberg, Peter, Tinschert, Sigrid, Hussain, Muhammad Sajid

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Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome pro... von Kinfe, Thomas M, Asif, Maria, Chakravarthy, Krishnan V, Deer, Timothy R, Kramer, Jeffery M, Yearwood, Thomas L, Hurlemann, Rene, Hussain, Muhammad Sajid, Motameny, Susanne, Wagle, Prerana, Nürnberg, Peter, Gravius, Sascha, Randau, Thomas, Gravius, Nadine, Chaudhry, Shafqat R, Muhammad, Sajjad

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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan von 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, Haque, Saif ul, Mir, Asif, Anjum, Iram, Fiaz, Mehak, Ali, Zafar, Tariq, Muhammad, Saba, Neelam, Hussain, Wajid, Budde, Birgit, Irshad, Saba, Noegel, Angelika Anna, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway von Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid

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Valproic Acid-Induced Thrombocytopenia in Treatment-Resistant GABRB3 Genetic Epilepsy: A Case Report von Schuler, Matthew, Shammout, Ali, Asif, Maria, Mullikin, Amy

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Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive p... von Aslam, Komal, Saeed, Aysha, Saeed, Hafiza Iqra, Bashir, Rasheeda, Abid, Hanna, Akhtar, Roeha, Habib, Nida, Khan, Ramisha, Asif, Roha, Rafiq, Shereen, Asif, Maria, Makhdoom, Ehtisham Ul Haq, Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Anjum, Iram

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Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome von Braun, Daniela A, Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Eddy, Kaitlyn, Kitzler, Thomas M, Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A, Lawson, Jennifer A, Gee, Heon Yung, Warejko, Jillian K, Hermle, Tobias, Majmundar, Amar J, Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M, Gale, Daniel P, Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A, Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S, Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P, Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K, Hildebrandt, Friedhelm

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Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family von Aslam, Komal, Saeed, Aysha, Jamil, Iffat, Saeed, Hafiza Iqra, Khan, Ramisha, Hassan, Samina, Rafiq, Shereen, Asif, Maria, Makhdoom, Ehtisham Ul Haq, Bashir, Rasheeda, Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Anjum, Iram

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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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Nesprin-1 impact on tumorigenic cell phenotypes von Sur-Erdem, Ilknur, Hussain, Muhammed Sajid, Asif, Maria, Pınarbası, Nareg, Aksu, Ali Cenk, Noegel, Angelika A.

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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling von Dufour, William, Alawbathani, Salem, Jourdain, Anne-Sophie, Asif, Maria, Baujat, Geneviève, Becker, Christian, Budde, Birgit, Gallacher, Lyndon, Georgomanolis, Theodoros, Ghoumid, Jamal, Höhne, Wolfgang, Lyonnet, Stanislas, Ba-Saddik, Iman Ali, Manouvrier-Hanu, Sylvie, Motameny, Susanne, Noegel, Angelika A., Pais, Lynn, Vanlerberghe, Clémence, Wagle, Prerana, White, Susan M., Willems, Marjolaine, Nürnberg, Peter, Escande, Fabienne, Petit, Florence, Hussain, Muhammad Sajid

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A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family von Asif, Maria, Mocanu, Ionut Dragos, Abdullah, Uzma, Höhne, Wolfgang, Altmüller, Janine, Makhdoom, Ehtisham Ul Haq, Thiele, Holger, Baig, Shahid Mahmood, Nürnberg, Peter, Graul‐Neumann, Luitgard, Hussain, Muhammad Sajid

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A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome von 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, Höning, Stefan, Baig, Shahid Mahmood, Nürnberg, Peter, Hussain, Muhammad Sajid

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

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Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families von Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar, Tommerup, Niels, Baig, Shahid M.

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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ von Makhdoom, Ehtisham Ul Haq, Waseem, Syeda Seema, Iqbal, Maria, Abdullah, Uzma, Hussain, Ghulam, Asif, Maria, Budde, Birgit, Hoehne, Wolfgang, Tinschert, Sigrid, Saadi, Saadia Maryam, Yousaf, Hammad, Ali, Zafar, Fatima, Ambrin, Kaygusuz, Emrah, Khan, Ayaz, Jameel, Muhammad, Khan, Sheraz, Tariq, Muhammad, Anjum, Iram, Altmueller, Janine, Thiele, Holger, Hoening, Stefan, Baig, Shahid Mahmood, Nuernberg, Peter, Hussain, Muhammad Sajid

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Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism von Young, Natalie, Asif, Maria, Jackson, Matthew, Martin Fernandez-Mayoralas, Daniel, Jimenez de la Pena, Mar, Calleja-Perez, Beatriz, Alvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A., Hohne, Wolfgang, Nuernberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernandez-Jaen, Alberto

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Studies on Extracellular Protein Metabolites of Thermophilic Bacterial Strains Isolated from Local Hotspring von Saleem, Farah, Asif, Maria, Ajaz, Munazza, Rasool, Sheikh Ajaz

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Valproic Acid-Induced Thrombocytopenia in Treatment-Resistant GABRB3 Genetic Epilepsy: A Case Report von Schuler, Matthew, Shammout, Ali, Asif, Maria, Mullikin, Amy

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