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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5198, doi. 10.1093/brain/awad292
By:
- Stefanski, Arthur;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Montanucci, Ludovica;
- Gati, Cornelius;
- Klöckner, Chiara;
- Johannesen, Katrine M;
- Goodspeed, Kimberly;
- Macnee, Marie;
- Deng, Alexander T;
- Aledo-Serrano, Ángel;
- Borovikov, Artem;
- Kava, Maina;
- Bouman, Arjan M;
- Hajianpour, M J;
- Pal, Deb K;
- Engelen, Marc;
- Hagebeuk, Eveline E O;
- Shinawi, Marwan;
- Heidlebaugh, Alexis R
Publication type:
Article
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Published in:
Bioinformatics, 2023, v. 39, n. 5, p. 1, doi. 10.1093/bioinformatics/btad290
By:
- Macnee, Marie;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Klöckner, Chiara;
- Platzer, Konrad;
- Stefanski, Arthur;
- Montanucci, Ludovica;
- Bayat, Allan;
- Radtke, Maximilian;
- Collins, Ryan L;
- Talkowski, Michael;
- Blankenberg, Daniel;
- Møller, Rikke S;
- Lemke, Johannes R;
- Nothnagel, Michael;
- May, Patrick;
- Lal, Dennis
Publication type:
Article
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis.
Published in:
Epilepsia (Series 4), 2021, v. 62, n. 1, p. 143, doi. 10.1111/epi.16755
By:
- Stefanski, Arthur;
- Calle‐López, Yamile;
- Leu, Costin;
- Pérez‐Palma, Eduardo;
- Pestana‐Knight, Elia;
- Lal, Dennis
Publication type:
Article
Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72101-8
By:
- Leu, Costin;
- Bautista, Jocelyn F.;
- Sudarsanam, Monica;
- Niestroj, Lisa-Marie;
- Stefanski, Arthur;
- Ferguson, Lisa;
- Daly, Mark J.;
- Jehi, Lara;
- Najm, Imad M.;
- Busch, Robyn M.;
- Lal, Dennis
Publication type:
Article
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/8200176
By:
- Zarate, Yuri A.;
- Bosanko, Katherine;
- Kannan, Amrit;
- Thomason, Ashlen;
- Nutt, Beth;
- Kumar, Nihit;
- Simmons, Kirt;
- Hiegert, Aaron;
- Hartzell, Larry;
- Johnson, Adam;
- Prater, Tabitha;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Stefanski, Arthur;
- Lal, Dennis;
- Caffrey, Aisling R.
Publication type:
Article

Found: 5

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis.

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures.

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.