檢索結果 - Krishna Kumar Kandaswamy

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  1. 1
    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders 由 Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs

    出版 2019
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  2. 2
    Novel clinical and genetic insight into CXorf56-associated intellectual disability

    Novel clinical and genetic insight into CXorf56-associated intellectual disability 由 María Eugenia Rocha, Tainá Regina Damaceno Silveira, Erina Sasaki, Daíse Moreno Sás, Charles Marques Lourenço, Krishna Kumar Kandaswamy, Christian Beetz, Arndt Rolfs, Peter Bauer, William Reardon, Aida M. Bertoli‐Avella

    出版 2019
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  3. 3
    Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

    Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population 由 Peter Bauer, Krishna Kumar Kandaswamy, Maximilian E. R. Weiss, Omid Paknia, Martin Werber, Aida M. Bertoli‐Avella, Zafer Yüksel, Malgorzata Bochinska, Gabriela Oprea, Shivendra Kishore, Volkmar Weckesser, Ellen Karges, Arndt Rolfs

    出版 2018
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  4. 4
    Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting

    Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting 由 Aida M. Bertoli‐Avella, Mandy Radefeldt, Ruslan Al‐Ali, Luba M. Pardo, Sabrina Lemke, Anika Leubauer, D.L. Polla, Rebecca Hörnicke, Lígia S. Almeida, Krishna Kumar Kandaswamy, Christian Beetz, Jorge Pinto Basto, Peter Bauer

    出版 2025
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  5. 5
    Clinical exome sequencing: results from 2819 samples reflecting 1000 families

    Clinical exome sequencing: results from 2819 samples reflecting 1000 families 由 Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Maximilian E. R. Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, José María García-Aznar, Martin Werber, Oliver Brandau, María Calvo, Caterina Baldi, Karen Wessel, Shivendra Kishore, Nahid Nahavandi, Wafaa Eyaid, Muhammad T. Al Rifai, Ahmed Al‐Rumayyan, Waleed Altwaijri, Ali Alothaim, Amal Alhashem, Nouriya Al‐Sannaa, Mohammed Al Balwi, Majid Alfadhel, Arndt Rolfs, Rami Abou Jamra

    出版 2016
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  6. 6
    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

    De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders 由 Marija Dulovic‐Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, Geir J. Braathen, Nataliya Di Donato, Elisa Rahikkala, Skadi Beblo, Martin Werber, Victor Krajka, Øyvind L. Busk, H. Baumann, Nouriya Al‐Sannaa, Frauke Hinrichs, Rabea Affan, N. Navot, Mohammed Al Balwi, Gabriela Oprea, Øystein L. Holla, Maximilian E. R. Weiss, Rami Abou Jamra, Anne‐Karin Kahlert, Shivendra Kishore, Kristian Tveten, Melissa Vos, Arndt Rolfs, Katja Lohmann

    出版 2019
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  7. 7
    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort 由 Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane, María Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, María Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego‐Álvarez, Michal Zawada, Krishna Kumar Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius‐Ionuţ Iuraşcu, Claudia Cozma, Florian Vogel, Amal Alhashem, Jozef Hertecant, Aisha Al‐Shamsi, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed Al Balwi, Majid Alfadhel, Nouriya Al‐Sannaa, William Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer

    出版 2020
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  8. 8
    <scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

    <scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia 由 Demy J.S. Kuipers, Wim Mandemakers, Chin‐Song Lu, Simone Olgiati, Guido J. Breedveld, Christina Fevga, Vera Tadić, Miryam Carecchio, Bradley Osterman, Lena Sagi‐Dain, Yah‐Huei Wu‐Chou, Chiung C. Chen, Hsiu‐Chen Chang, Shey‐Lin Wu, Tu‐Hsueh Yeh, Yi‐Hsin Weng, Antonio E. Elia, Celeste Panteghini, Nicolas Marotta, Martje G. Pauly, Andrea A. Kühn, Jens Volkmann, Baiba Lāce, Inge A. Meijer, Krishna Kumar Kandaswamy, Marialuisa Quadri, Barbara Garavaglia, Katja Lohmann, Peter Bauer, Niccolò E. Mencacci, Steven Lubbe, Christine Klein, Aida M. Bertoli‐Avella, Vincenzo Bonifati

    出版 2020
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  9. 9
    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

    Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders 由 Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, Natalia Ordonez‐Herrera, Kornélia Tripolszki, Christian Beetz, María Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al‐Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed Al Balwi, Abdulrahman Alswaid, Zuhair N. Al‐Hassnan, Malak Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al‐Gazali, Huma Arshad Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Al‐Sannaa, Aisha Al‐Shamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer

    出版 2021
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  10. 10
    Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

    Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases 由 Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G. Monaghan, Amber Begtrup, Rebecca I. Torene, Amna Al‐Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik-Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcová, Faisal Zafar, Nuzhat Rana, Krishna Kumar Kandaswamy, Jozef Hertecant, Peter Bauer, Mohammed A. AlMuhaizea, Mustafa A. Salih, Mazhor Aldosary, Rawan Almass, Laila AlQuait, Wafa Qubbaj, Serdar Coşkun, Khaled O. Alahmadi, Muddathir H. Hamad, Salem Alwadaee, Khalid Awartani, Anas Dababo, Futwan Al‐Mohanna, Dilek Çolak, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Murat Günel, A. Gulhan Ercan‐Sencicek, Gouri Rao Passi, Huma Arshad Cheema, Stéphanie Efthymiou, Henry Houlden, Aida M. Bertoli‐Avella, Alice S. Brooks, Kyle Retterer, Reza Maroofian, Namik Kaya, Tjakko J. van Ham, Tahsin Stefan Barakat

    出版 2019
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