Krishna K Kandaswamy - Centogene, Berlin, Germany

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论文共 25 篇作者统计合作学者相似作者

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Beyond Genomics: Using RNA-seq from Dried Blood Spots to Unlock the Clinical Relevance of Splicing Variation in a Diagnostic Setting

Aida M. Bertoli-Avella,Mandy Radefeldt,Ruslan Al-Ali,Luba M. Pardo,Sabrina Lemke,Anika Leubauer, Daniel L. Polla, Rebecca Hörnicke,Ligia S. Almeida,Krishna Kumar Kandaswamy,Christian Beetz,Jorge Pinto Basto,Peter Bauer

European Journal of Human Geneticspp.1-10, (2025)

引用0浏览0WOSNATURE引用

P614: the Clinical Genome: Validation Data Beyond Clinical Exome

Kornelia Tripolszki, Melina Bilinski, Matthias Bieg,Anett Marais,Catarina Pereira,Javier Martini, Mukunth Sadagopan, Divine Lawir Fondzenyuy, Swathi Chinnappa, Stephanie Weissgraeber, Thomas Hackenberg, Chris Junghans, Johannes Numrich,Krishna Kumar Kandaswamy,Jorge Pinto-Basto,Peter Bauer,Omid Paknia

Genetics in Medicine Open (2024): 101520

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At a Glance: the Largest Niemann-Pick Type C1 Cohort with 602 Patients Diagnosed over 15 Years

Pilar Guatibonza Moreno,Luba M. Pardo,Catarina Pereira,Sabine Schroeder, Deepthi Vagiri,Ligia S. Almeida, Carlos Juaristi,Heba Hosny, Clarice C. Y. Loh,Anika Leubauer,Galina Torres Morales,Sebastian Oppermann,Marius-Ionuț Iurașcu,Steffen Fischer, Tara-Marisa Steinicke,Nikenza Viceconte,Claudia Cozma,Krishna Kumar Kandaswamy,Jorge Pinto Basto,Tobias Böttcher,Peter Bauer,Aida Bertoli-Avella

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

引用3浏览0WOSNATURE引用

NGS-based detection of uniparental disomy in rare disease patients

Robert Schwieger,Anett Marais, Joe Rayner,Antonio Romito,Paknia Omid,Volkmar Weckesser,Peter Bauer,Krishna Kumar Kandaswamy

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Optimized shallow whole-genome sequencing for large CNV detection in rare genetic disorders

Anett Marais,Krishna Kumar Kandaswamy,Antonio Romito,Natalia Ordonez,Dan Diego Alvarez,Katja Bruesehafer,Volkmar Weckesser,Peter Bauer,Jonas Marcello

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

Christian Beetz,Ana Westenberger,Ruslan Al‐Ali,Najim Ameziane,Nadia Alhashmi,Rose‐Mary Boustany,Fuad Al Mutairi,Majid Alfadhel,Zuhair N. Al‐Hassnan,Moenaldeen AlSayed,Krishna Kumar Kandaswamy,Omid Paknia,Volha Skrahina,Arndt Rolfs,Péter Bauer

Movement disordersno. 4 (2021): 1029-1031

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An Unorthodox Disease Mechanism

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

openalex（2019）

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Characterization of an Ultra-Rare Disorder

María Eugenia Rocha,William Reardon,Peter Bauer,Arndt Rolfs,Christian Beetz,Krishna Kumar Kandaswamy,C.M. Lourenço, D M Sás,Erina Sasaki,Tainá Regina Damaceno Silveira,Aida M. Bertoli‐Avella

semanticscholar

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Understanding DNA Alterations in Colorectal Cancer

Maja Hühns,Sylvia Nürnberg,Krishna Kumar Kandaswamy,Claudia Maletzki,Peter Bauer,Friedrich Prall

openalex（2019）

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