Berivan Baskin

Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism

Baskin, Berivan; Kalia, Lorraine V.; Banwell, Brenda L.; Ray, Peter N. et al.

Ingår i Movement Disorders, s. 1792-1794, 2017

• DOI för Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism

A Novel Mutation in DMD (c.10797+5G > A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability

Banihani, Rudaina; Baskin, Berivan; Halliday, William; Kobayashi, Jeff et al.

Ingår i Journal of Developmental and Behavioral Pediatrics, s. 239-244, 2016

• DOI för A Novel Mutation in DMD (c.10797+5G > A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability

Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis

Torchia, Jonathon; Picard, Daniel; Lafay-Cousin, Lucie; Hawkins, Cynthia E. et al.

Ingår i The Lancet Oncology, s. 569-582, 2015

• DOI för Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

Baskin, Berivan; Stavropoulos, Dimitri J.; Rebeiro, Paige A.; Orr, Jennifer et al.

Ingår i Molecular Genetics & Genomic Medicine, s. 539-547, 2014

• DOI för Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
• Ladda ner fulltext (pdf) av Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

Molinski, Steven V; Gonska, Tanja; Huan, Ling Jun; Baskin, Berivan et al.

Ingår i Genetics in Medicine, s. 625-632, 2014

• DOI för Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism

Baskin, Berivan; Kalia, Lorraine V.; Banwell, Brenda L.; Ray, Peter N. et al.

Ingår i Movement Disorders, s. 1792-1794, 2017

• DOI för Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism

A Novel Mutation in DMD (c.10797+5G > A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability

Banihani, Rudaina; Baskin, Berivan; Halliday, William; Kobayashi, Jeff et al.

Ingår i Journal of Developmental and Behavioral Pediatrics, s. 239-244, 2016

• DOI för A Novel Mutation in DMD (c.10797+5G > A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability

Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis

Torchia, Jonathon; Picard, Daniel; Lafay-Cousin, Lucie; Hawkins, Cynthia E. et al.

Ingår i The Lancet Oncology, s. 569-582, 2015

• DOI för Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

Baskin, Berivan; Stavropoulos, Dimitri J.; Rebeiro, Paige A.; Orr, Jennifer et al.

Ingår i Molecular Genetics & Genomic Medicine, s. 539-547, 2014

• DOI för Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
• Ladda ner fulltext (pdf) av Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

Molinski, Steven V; Gonska, Tanja; Huan, Ling Jun; Baskin, Berivan et al.

Ingår i Genetics in Medicine, s. 625-632, 2014

• DOI för Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome

Baskin, Berivan; Choufani, Sanaa; Chen, Yi-an; Shuman, Cheryl et al.

Ingår i Human Genetics, s. 321-330, 2014

• DOI för High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome

Alternative lengthening of telomerases is enriched in, and impacts survival of TP53 mutant pediatric malignant brain tumors

Mangerel, Joshua; Price, Aryeh; Castelo-Branco, Pedro; Brzezinski, Jack et al.

Ingår i Acta Neuropathologica, s. 853-862, 2014

• DOI för Alternative lengthening of telomerases is enriched in, and impacts survival of TP53 mutant pediatric malignant brain tumors

WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma

Zhukova, Nataliya; Ramaswamy, Vijay; Remke, Marc; Martin, Dianna C et al.

Ingår i Acta neuropathologica communications, 2014

• DOI för WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma
• Ladda ner fulltext (pdf) av WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

Baskin, Berivan; Skinner, Jon R; Sanatani, Shubhayan; Terespolsky, Deborah et al.

Ingår i Human Genetics, s. 1245-1252, 2013

• DOI för TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

Autosomal recessive hereditary spastic paraplegia: clinical and genetic characteristics of a well-defined cohort

Yoon, G.; Baskin, Berivan; Tarnopolsky, M.; Boycott, K. M. et al.

Ingår i Neurogenetics, s. 181-188, 2013

• DOI för Autosomal recessive hereditary spastic paraplegia: clinical and genetic characteristics of a well-defined cohort

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation

Lines, Matthew A; Rupar, C Anthony; Rip, Jack W; Baskin, Berivan et al.

Ingår i JIMD Reports, s. 79-84, Springer, 2014

• DOI för Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation