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Publications Authored by Berivan Baskin | PubFacts
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

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

Mov Disord 2017 12 30;32(12):1792-1794. Epub 2017 Oct 30.

Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mds.27188DOI Listing
December 2017

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

Am J Med Genet A 2017 Jan 16;173(1):213-216. Epub 2016 Nov 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://doi.wiley.com/10.1002/ajmg.a.37977
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http://dx.doi.org/10.1002/ajmg.a.37977DOI Listing
January 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

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

J Dev Behav Pediatr 2016 Apr;37(3):239-44

*Division of Developmental Paediatrics, Department of Paediatrics, University of Toronto, Toronto, ON, Canada; †Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada; ‡Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; §Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ‖Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ¶Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada; **Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/DBP.0000000000000262DOI Listing
April 2016

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

Lancet Oncol 2015 May 14;16(5):569-82. Epub 2015 Apr 14.

Division of Hematology-Oncology, University of Toronto, Toronto, ON, Canada; Arthur and Sonia Labatt Brain Tumour Research Centre, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; Department of Pediatrics, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/S1470-2045(15)70114-2DOI Listing
May 2015

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

Mol Genet Genomic Med 2014 Nov 15;2(6):539-47. Epub 2014 Sep 15.

The Centre for Applied Genomics, The Hospital for Sick Children Toronto, Ontario, Canada ; Division of Molecular Genetics, The Hospital for Sick Children Toronto, Ontario, Canada ; Department of Molecular Genetics, The University of Toronto Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/mgg3.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303224PMC
November 2014

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

Genet Med 2014 Aug 20;16(8):625-32. Epub 2014 Feb 20.

1] Programme in Molecular Structure and Function, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada [2] Department of Biochemistry, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada [3] Department of Physiology, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.4DOI Listing
August 2014

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

Hum Genet 2014 Mar 24;133(3):321-30. Epub 2013 Oct 24.

The Rudbeck Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1007/s00439-013-1379-zDOI Listing
March 2014

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

JIMD Rep 2014 31;12:79-84. Epub 2013 Jul 31.

Division of Metabolics and Newborn Screening, University of Ottawa, Children's Hospital of Eastern Ontario, 401 Smyth Road, K1H 8L1, Ottawa, ON, Canada.

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http://dx.doi.org/10.1007/8904_2013_247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897797PMC
January 2014

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Muscle Nerve 2012 May;45(5):752-5

Neurology Division, Hospital for Sick Children, Toronto, Canada.

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http://doi.wiley.com/10.1002/mus.23274
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http://dx.doi.org/10.1002/mus.23274DOI Listing
May 2012

Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene.

Indian J Pediatr 2011 Jul 31;78(7):866-9. Epub 2010 Dec 31.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605006, India,

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http://dx.doi.org/10.1007/s12098-010-0319-3DOI Listing
July 2011

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.

Neuromuscul Disord 2011 Mar 4;21(3):178-82. Epub 2010 Dec 4.

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.nmd.2010.11.008DOI Listing
March 2011

Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Am J Med Genet A 2010 Jul;152A(7):1808-11

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33462
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http://dx.doi.org/10.1002/ajmg.a.33462DOI Listing
July 2010

TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumors.

J Clin Oncol 2010 Apr 22;28(12):1995-2001. Epub 2010 Mar 22.

The Hospital for Sick Children, Division of Hematology/Oncology, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1200/JCO.2009.26.8169DOI Listing
April 2010

Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations.

J Clin Oncol 2010 Mar 8;28(8):1345-50. Epub 2010 Feb 8.

Divisions of Haematology/Oncology, The LabattBrain Tumor Research Centre, TheHospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1200/JCO.2009.23.5952DOI Listing
March 2010

Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma.

Cancer Res 2010 Jan;70(1):160-71

Institute of Medical Science, Department of Medical Biophysics, University of Toronto, and Program in Genetics and Genome Biology, Department of Pediatric Laboratory Medicine, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-1902DOI Listing
January 2010

Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.

Neuromuscul Disord 2009 Mar 18;19(3):189-92. Epub 2009 Feb 18.

Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966080068
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http://dx.doi.org/10.1016/j.nmd.2008.11.003DOI Listing
March 2009

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

Neuromuscul Disord 2008 Aug 18;18(8):675-7. Epub 2008 Jul 18.

Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont., Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.nmd.2008.05.014DOI Listing
August 2008