Gregory Costain

发表

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

John Wei, D. Merico, J. Howe, 2024, Nature genetics.

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.

Glennis A. Logsdon, Louis T. Dang, Stormy J. Chamberlain, 2022, American journal of human genetics.

Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome

A. Bassett, C. Silversides, G. Costain, 2015, Journal of Genetic Counseling.

The importance of copy number variation in congenital heart disease

A. Bassett, C. Silversides, G. Costain, 2016, npj Genomic Medicine.

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Brian Chung, Therese van Amelsvoort, Gregory Costain, 2015, Genetics in Medicine.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

S. Scherer, M. Owen, R. Gur, 2020, Nature Medicine.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

S. Scherer, G. Kirov, D. Merico, 2013, Human molecular genetics.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

J. Gécz, C. Marshall, M. Tarnopolsky, 2020, Frontiers in Molecular Neuroscience.

On the Clinical Applicability and Translation of Genetic Discoveries in Schizophrenia

G. Costain, Gregory Costain, 2014 .

Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

A. Bassett, G. Costain, P. Ray, 2012, Journal of intellectual disability research : JIDR.

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

Gregory Costain, A. Bassett, G. Costain, 2012, The application of clinical genetics.

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions

A. Bassett, C. Silversides, G. Costain, 2011, Journal of Medical Genetics.

Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age.

A. Bassett, G. Costain, K. Hodgkinson, 2014, Schizophrenia bulletin.

Evaluating genetic counseling for individuals with schizophrenia in the molecular age.

S. Scherer, W. Meschino, A. Bassett, 2014, Schizophrenia bulletin.

Homozygous mutation in PRUNE1 in an Oji‐Cree male with a complex neurological phenotype

G. Costain, S. Laughlin, P. Krishnan, 2017, American journal of medical genetics. Part A.

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

Daniele Merico, Christian R Marshall, Tracy Yuen, 2013, Human molecular genetics.

Genome-wide tandem repeat expansions contribute to schizophrenia risk

C. Marshall, R. Yuen, A. Bassett, 2021, Molecular Psychiatry.

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.

S. Scherer, A. C. Lionel, C. Marshall, 2016, International journal of cardiology.

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

S. Scherer, C. Marshall, R. Yuen, 2020, JAMA network open.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Daniele Merico, Raveen Basran, Christian R Marshall, 2017, Genetics in Medicine.

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

Daniele Merico, Christian R Marshall, Babak Alipanahi, 2015, G3: Genes, Genomes, Genetics.

Manuscript Word Count: Abstract: 193; Text, with citations, without references: 3921 Number of Tables: 2; Supplemental Files: Yes Whole-genome sequencing suggests schizophrenia risk mechanisms in humans with 22q11.2 deletion syndrome

Brendan J. Frey, Daniele Merico, Babak Alipanahi, 2015 .

A large data resource of genomic copy number variation across neurodevelopmental disorders

J. R. MacDonald, John Wei, S. Scherer, 2019, npj Genomic Medicine.

Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

D. Merico, C. Marshall, R. Yuen, 2021, Translational Psychiatry.

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

Daniele Merico, Christian R. Marshall, Tracy Yuen, 2012, PLoS genetics.

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

Christian R. Marshall, Dimitri J. Stavropoulos, Gregory Costain, 2014, Genetics in Medicine.

Adult neuropsychiatric expression and familial segregation of 2q13 duplications

A. C. Lionel, C. Marshall, A. Bassett, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

Daniele Merico, John Wei, Christian R. Marshall, 2015, Biological Psychiatry.

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy

G. Costain, D. Cordeiro, S. Mercimek-Andrews, 2019, Neuroscience.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

I. Scheffer, C. Marshall, V. Chau, 2023, The Lancet Neurology.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

H. Stefánsson, D. Rujescu, A. Ingason, 2016, PLoS genetics.

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Courtney E. French, D. Rowitch, F. Muntoni, 2022, JAMA neurology.

Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins

C. Cytrynbaum, R. Weksberg, G. Costain, 2021, Ophthalmic genetics.

Reappraisal of Reported Genes for Sudden Arrhythmic Death

Michael J. Ackerman, Seema M Jamal, Gregory Costain, 2018, Circulation.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Michael F. Wangler, C. Cytrynbaum, R. Weksberg, 2023, American journal of human genetics.

Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome

A. Bassett, N. Butcher, G. Costain, 2015, Genetics in Medicine.

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

Daniele Merico, Gregory Costain, Lucas Ogura, 2014, Front. Neurol..

Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder

P. Striano, F. Zara, K. Nagata, 2022, Journal of Medical Genetics.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

John Wei, S. Scherer, E. Zackai, 2017, The American journal of psychiatry.

Trio RNA sequencing in a cohort of medically complex children

Michael D. Wilson, Arun K. Ramani, C. Marshall, 2023, American journal of human genetics.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

S. Scherer, C. Marshall, R. Weksberg, 2018, European Journal of Human Genetics.

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

S. Scherer, C. Marshall, A. Prasad, 2019, Journal of Neurodevelopmental Disorders.

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

John Wei, S. Scherer, D. Merico, 2017, Genome Medicine.

Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?

A. Bassett, G. Costain, Chelsea Lowther, 2017, Current Psychiatry Reports.

Clinically detectable copy number variations in a Canadian catchment population of schizophrenia.

Ronak K. Kapadia, A. Bassett, G. Costain, 2010, Journal of psychiatric research.

Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model

C. Marshall, R. Kahn, A. Bassett, 2021, Psychological Medicine.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Reproductive Genetic Testing and Human Genetic Variation in the Era of Genomic Medicine

A. Bassett, Chelsea Lowther, Gregory Costain, 2015, The American journal of bioethics : AJOB.

Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature

H. Otsubo, V. Chau, G. Costain, 2023, Seizure.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

Genome sequencing as a diagnostic test

S. Scherer, C. Marshall, G. Costain, 2021, Canadian Medical Association Journal.

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Ayman Al Baz, John Wei, J. Sebat, 2022, Cell.

Chromosomal microarray analysis-a routine clinical genetic test for patients with schizophrenia.

A. Bassett, G. Costain, K. Baker, 2014, The lancet. Psychiatry.

Hereditary Mucin Deficiency Caused by Biallelic Loss-of-Function of MUC5B.

C. Marshall, D. Manson, S. Walker, 2022, American journal of respiratory and critical care medicine.

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

P. Siper, A. Poduri, A. Mctague, 2024, NPJ genomic medicine.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

C. Marshall, A. Beggs, G. Costain, 2023, medRxiv.