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Tarailo‐Graovac, Maja
133  results:
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1

Identification of a mosaic MTOR variant in purified neurona..:

Klein, Karl Martin ; Mascarenhas, Rumika ; Merrikh, Daria...
Epilepsia.  65 (2024)  6 - p. 1768-1776 , 2024
Link: https://doi.org/10.1111/..
 
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2

A novel FAME1 repeat configuration in a European family ide..:

Maroilley, Tatiana ; Tsai, Meng‐Han ; Mascarenhas, Rumika...
Epilepsia Open.  8 (2023)  2 - p. 659-665 , 2023
Link: https://doi.org/10.1002/..
 
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3

De novo pathogenic DNM1L variant in a patient diagnosed wit..:

Tarailo‐Graovac, Maja ; Zahir, Farah R. ; Zivkovic, Irena...
Molecular Genetics & Genomic Medicine.  7 (2019)  10 - p. , 2019
Link: https://doi.org/10.1002/..
 
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4

The role of the clinician in the multi‐omics era: are you r..:

van Karnebeek, Clara D. M. ; Wortmann, Saskia B. ; Tarailo‐Graovac, Maja...
Journal of Inherited Metabolic Disease.  41 (2018)  3 - p. 571-582 , 2018
Link: https://doi.org/10.1007/..
 
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5

Integration of genomics and metabolomics for prioritization..:

Graham, Emma ; Lee, Jessica ; Price, Magda...
Journal of Inherited Metabolic Disease.  41 (2018)  3 - p. 435-445 , 2018
Link: https://doi.org/10.1007/..
 
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6

SimPEL: Simulation‐based power estimation for sequencing st..:

Mak, Lauren ; Li, Minghao ; Cao, Chen...
Genetic Epidemiology.  42 (2018)  5 - p. 480-487 , 2018
Link: https://doi.org/10.1002/..
 
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7

A girl with developmental delay, ataxia, cranial nerve pals..:

Armstrong, Linlea ; Tarailo‐Graovac, Maja ; Sinclair, Graham...
American Journal of Medical Genetics Part A.  173 (2017)  3 - p. 712-715 , 2017
Link: https://doi.org/10.1002/..
 
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8

Clinical delineation of the PACS1‐related syndrome—Report o..:

Schuurs‐Hoeijmakers, Janneke H. M. ; Landsverk, Megan L. ; Foulds, Nicola...
American Journal of Medical Genetics Part A.  170 (2016)  3 - p. 670-675 , 2016
Link: https://doi.org/10.1002/..
 
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9

GeneYenta: A Phenotype­Based Rare Disease Case Matching Too..:

Gottlieb, Michael M. ; Arenillas, David J. ; Maithripala, Savanie...
Human Mutation.  36 (2015)  4 - p. 432-438 , 2015
Link: https://doi.org/10.1002/..
 
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10

Using RepeatMasker to Identify Repetitive Elements in Genom..:

Tarailo‐Graovac, Maja ; Chen, Nansheng
Current Protocols in Bioinformatics.  25 (2009)  1 - p. , 2009
Link: https://doi.org/10.1002/..
 
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11

212 Human ASXL1 Deficiency Causes Epigenetic Dysfunction, C..:

Fu, Maggie ; Sharma, Mehul ; Yousefi, Pariya...
Clinical Immunology.  262 (2024)  - p. 110154 , 2024
Link: https://doi.org/10.1016/..
 
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12

Single variant, yet "double trouble": TSC and KBG syndrome ..:

Rodrigues Alves Barbosa, Victoria ; Maroilley, Tatiana ; Diao, Catherine...
Life Science Alliance.  7 (2024)  4 - p. e202302115 , 2024
Link: https://doi.org/10.26508..
 
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13

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phen..:

van Karnebeek, Clara D.M. ; Tarailo-Graovac, Maja ; Leen, René...
Genetics in Medicine.  26 (2024)  6 - p. 101104 , 2024
Link: https://doi.org/10.1016/..
 
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14

GPAD: a natural language processing-based application to ex..:

Rahit, K. M. Tahsin Hassan ; Avramovic, Vladimir ; Chong, Jessica X..
BMC Bioinformatics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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15

Mitogen-induced defective mitosis transforms neural progeni..:

Omairi, Hiba K ; Grisdale, Cameron J ; Meode, Mathieu...
Neuro-Oncology.  , 2023
Link: https://doi.org/10.1093/..
 
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