Berivan Baskin

A novel PML germline variant as a candidate predisposing genetic aberration in familial acute myeloid leukaemia.

Soussi, Thierry; Kundu, Snehangshu; Gerbaud, Pauline; Pandzic, Tatjana et al.

Part of British Journal of Haematology, p. 1118-1121, 2025

• DOI for A novel PML germline variant as a candidate predisposing genetic aberration in familial acute myeloid leukaemia.
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Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

Tesi, Bianca; Robelius, Anna; Baskin, Berivan; Lazarevic, Vladimir et al.

Part of Clinical Cancer Research, p. 3062-3071, 2025

• DOI for Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
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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.

Part of Movement Disorders, p. 1792-1794, 2017

• DOI for 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.

Part of Journal of Developmental and Behavioral Pediatrics, p. 239-244, 2016

• DOI for 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.

Part of The Lancet Oncology, p. 569-582, 2015

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

A novel PML germline variant as a candidate predisposing genetic aberration in familial acute myeloid leukaemia.

Soussi, Thierry; Kundu, Snehangshu; Gerbaud, Pauline; Pandzic, Tatjana et al.

Part of British Journal of Haematology, p. 1118-1121, 2025

• DOI for A novel PML germline variant as a candidate predisposing genetic aberration in familial acute myeloid leukaemia.
• Download full text (pdf) of A novel PML germline variant as a candidate predisposing genetic aberration in familial acute myeloid leukaemia.

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

Tesi, Bianca; Robelius, Anna; Baskin, Berivan; Lazarevic, Vladimir et al.

Part of Clinical Cancer Research, p. 3062-3071, 2025

• DOI for Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
• Download full text (pdf) of Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

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.

Part of Movement Disorders, p. 1792-1794, 2017

• DOI for 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.

Part of Journal of Developmental and Behavioral Pediatrics, p. 239-244, 2016

• DOI for 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.

Part of The Lancet Oncology, p. 569-582, 2015

• DOI for 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.

Part of Molecular Genetics & Genomic Medicine, p. 539-547, 2014

• DOI for Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms
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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.

Part of Genetics in Medicine, p. 625-632, 2014

• DOI for 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.

Part of Human Genetics, p. 321-330, 2014

• DOI for 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.

Part of Acta Neuropathologica, p. 853-862, 2014

• DOI for 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.

Part of Acta neuropathologica communications, 2014

• DOI for WNT activation by lithium abrogates TP53 mutation associated radiation resistance in medulloblastoma
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TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

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

Part of Human Genetics, p. 1245-1252, 2013

• DOI for 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.

Part of Neurogenetics, p. 181-188, 2013

• DOI for 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.

Part of JIMD Reports, p. 79-84, Springer, 2014

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