Search Results - "Kandaswamy, Krishna K"

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

“…Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studies are available regarding…”
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Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center by Rus, Corina-Marcela, Weissensteiner, Thomas, Pereira, Catarina, Susnea, Iuliana, Danquah, Bright D, Morales Torres, Galina, Rocha, Maria Eugenia, Cozma, Claudia, Saravanakumar, Deepa, Mannepalli, Sumanth, Kandaswamy, Krishna K, Di Bucchianico, Sebastiano, Zimmermann, Ralf, Rolfs, Arndt, Bauer, Peter, Beetz, Christian

“…Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide…”
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Rapid Large-Scale COVID-19 Testing during Shortages by Beetz, Christian, Skrahina, Volha, Förster, Toni M., Gaber, Hanaa, Paul, Jefri J., Curado, Filipa, Rolfs, Arndt, Bauer, Peter, Schäfer, Stephan, Weckesser, Volkmar, Lieu, Vivi, Radefeldt, Mandy, Pöppel, Claudia, Krake, Susann, Kandaswamy, Krishna K., Bruesehafer, Katja, Vogel, Florian

“…The Coronavirus disease 2019 (COVID-19) pandemic caused by the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) has resulted in economic and social…”
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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders by Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter

“…Within this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). We…”
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LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact by Beetz, Christian, Westenberger, Ana, Al‐Ali, Ruslan, Ameziane, Najim, Alhashmi, Nadia, Boustany, Rose‐Mary, Al Mutairi, Fuad, Alfadhel, Majid, Al‐Hassnan, Zuhair, AlSayed, Moenaldeen, Kandaswamy, Krishna K., Paknia, Omid, Skrahina, Volha, Rolfs, Arndt, Bauer, Peter

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Novel clinical and genetic insight into CXorf56-associated intellectual disability by Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K, Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, Bertoli-Avella, Aida M

“…Intellectual disability (ID) is one of most frequent reasons for genetic consultation. The complex molecular anatomy of ID ranges from complete chromosomal…”
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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia by Yüksel, Zafer, Vogel, Florian, Alhashem, Amal M., Alanzi, Talal S.A., Tabarki, Brahim, Kampe, Kapil, Kandaswamy, Krishna K., Werber, Martin, Bertoli‐Avella, Aida M., Beetz, Christian, Rolfs, Arndt, Bauer, Peter

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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 by Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

“…Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and…”
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BLProt: prediction of bioluminescent proteins based on support vector machine and relieff feature selection by Kandaswamy, Krishna Kumar, Pugalenthi, Ganesan, Hazrati, Mehrnaz Khodam, Kalies, Kai-Uwe, Martinetz, Thomas

“…Bioluminescence is a process in which light is emitted by a living organism. Most creatures that emit light are sea creatures, but some insects, plants, fungi…”
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A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia by Yüksel, Zafer, Vogel, Florian, Alhashem, Amal M, Alanzi, Talal S A, Tabarki, Brahim, Kampe, Kapil, Kandaswamy, Krishna K, Werber, Martin, Bertoli-Avella, Aida M, Beetz, Christian, Rolfs, Arndt, Bauer, Peter

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