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Browsing by Author Wasserman W W
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2015 | Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms and vertical gaze palsy | Sirrs S; van Karnebeek C D; Peng X; Shyr C; Tarailo Graovac, Maja  ; Mandal R; Testa D; Dubin D; Carbonetti G; Glynn S E;
Sayson B; Robinson W P; Han B; Wishart D; Ross C J; Wasserman W W; Hurwitz T A; Sinclair G; Kaczocha M;
| Conference Paper | Mp. category will be shown later |
| 2015 | FLAGS: candidate gene prioritization scheme based on frequently mutated genes in public exomes | Shyr C; Tarailo Graovac, Maja ; Gottlieb M; Lee J J Y; Van Karnebeek C; Wasserman W W | Conference Paper | Mp. category will be shown later |
| 2015 | GeneYenta: A phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation | Gottlieb M M; Arenillas D J; Maithripala S; Maurerd Z D; Tarailo Graovac, Maja ; Armstrong L; Patel M; Van Karnebeek C; Wasserman W W | Conference Paper | Mp. category will be shown later |
| 2015 | NANS deficiency: first discovery of a novel inborn error of metabolis by a combined high throughput metabolic screening & genomics approach | Van Karnebeek C; Tarailo Graovac, Maja ; Van Allen M; Dewan T; Ross C J; Wasserman W W; Kluijtmans L; Wevers R | Conference Paper | Mp. category will be shown later |
| 2014 | Next Generation Approach to the Discovery of Treatable Intellectual Disability Genes | Tarailo Graovac, Maja ; Sinclair G; Stockler-Ipsiroglu S; Van Allen M; Rozmus J; Shyr C; Sayson B; Lafek M; Ross C J; W P;
Wasserman W W; Rossi A;
| Conference Paper | Mp. category will be shown later |
| 2015 | OMICS2TREATID: A collaborative approach to accelerate the discovery of rare neuro-metabolic diseases | Tarailo Graovac, Maja ; Horvath G; Shyr C; Salvarinova R; Ye C; Wevers R A; Stockler S G; Wasserman W W; Van Karnebeek C | Conference Paper | Mp. category will be shown later |
| 2014 | Workshop on the Interpretation of Genomic Variants from Exome Sequencing | Tarailo Graovac, Maja ; Horvath G; Wasserman W W | Conference Paper | Mp. category will be shown later |