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Krishna, Kandaswamy
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1

EIF2AK2 Missense Variants Associated with Early Onset Gener..:

Kuipers, Demy J. S. ; Mandemakers, Wim ; Lu, Chin‐Song...
Annals of Neurology.  89 (2020)  3 - p. 485-497 , 2020
Link: https://doi.org/10.1002/..
 
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2

P36. Low positive circumferential margins can be achieved b..:

Horsnell, Jonathan ; Fairhurst, Katherine ; Kandaswamy, Krishna..
European Journal of Surgical Oncology (EJSO).  38 (2012)  11 - p. 1116 , 2012
Link: https://doi.org/10.1016/..
 
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3

P614: The clinical genome: Validation data beyond clinical ..:

Tripolszki, Kornelia ; Bilinski, Melina ; Bieg, Matthias...
Genetics in Medicine Open.  2 (2024)  - p. 101520 , 2024
Link: https://doi.org/10.1016/..
 
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4

At a glance: the largest Niemann-Pick type C1 cohort with 6..:

Guatibonza Moreno, Pilar ; Pardo, Luba M. ; Pereira, Catarina...
European Journal of Human Genetics.  31 (2023)  10 - p. 1108-1116 , 2023
Link: https://doi.org/10.1038/..
 
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5

Clinical and genetic characterization of a cohort of 97 CLN..:

Rus, Corina-Marcela ; Weissensteiner, Thomas ; Pereira, Catarina...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

Combining exome/genome sequencing with data repository anal..:

Bertoli-Avella, Aida M. ; Kandaswamy, Krishna K. ; Khan, Suliman...
Genetics in Medicine.  23 (2021)  8 - p. 1551-1568 , 2021
Link: https://doi.org/10.1038/..
 
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7

LRRK2 Loss‐of‐Function Variants in Patients with Rare Disea..:

Beetz, Christian ; Westenberger, Ana ; Al‐Ali, Ruslan...
Movement Disorders.  36 (2021)  4 - p. 1029-1031 , 2021
Link: https://doi.org/10.1002/..
 
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8

Rapid Large-Scale COVID-19 Testing during Shortages:

Beetz, Christian ; Skrahina, Volha ; Förster, Toni M....
Diagnostics.  10 (2020)  7 - p. 464 , 2020
Link: https://doi.org/10.3390/..
 
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9

Successful application of genome sequencing in a diagnostic..:

Bertoli-Avella, Aida M. ; Beetz, Christian ; Ameziane, Najim...
European Journal of Human Genetics.  29 (2020)  1 - p. 141-153 , 2020
Link: https://doi.org/10.1038/..
 
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10

Biallelic variants in the transcription factor PAX7 are a n..:

Feichtinger, René G. ; Mucha, Bettina E. ; Hengel, Holger...
Genetics in Medicine.  21 (2019)  11 - p. 2521-2531 , 2019
Link: https://doi.org/10.1038/..
 
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11

Development of an evidence-based algorithm that optimizes s..:

Bauer, Peter ; Kandaswamy, Krishna Kumar ; Weiss, Maximilian E.R....
Genetics in Medicine.  21 (2019)  1 - p. 53-61 , 2019
Link: https://doi.org/10.1038/..
 
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12

Novel clinical and genetic insight into CXorf56-associated ..:

Rocha, Maria Eugenia ; Silveira, Tainá Regina Damaceno ; Sasaki, Erina...
European Journal of Human Genetics.  28 (2019)  3 - p. 367-372 , 2019
Link: https://doi.org/10.1038/..
 
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13

A homozygous frameshift variant in an alternatively spliced..:

Yüksel, Zafer ; Vogel, Florian ; Alhashem, Amal M....
Clinical Genetics.  95 (2019)  5 - p. 631-633 , 2019
Link: https://doi.org/10.1111/..
 
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14

Novel NAXE variants as a cause for neurometabolic disorder:..:

Trinh, Joanne ; Imhoff, Sophie ; Dulovic-Mahlow, Marija...
Journal of Neurology.  267 (2019)  3 - p. 770-782 , 2019
Link: https://doi.org/10.1007/..
 
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15

Novel pathogenic variants and multiple molecular diagnoses ..:

Trinh, Joanne ; Kandaswamy, Krishna Kumar ; Werber, Martin...
Journal of Neurodevelopmental Disorders.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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