M. Carter

发表

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

S. Scherer, C. Lajonchere, D. Merico, 2013, American journal of human genetics.

Whole-genome sequencing of quartet families with autism spectrum disorder

S. Scherer, D. Merico, B. Fernandez, 2015, Nature Medicine.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

B. Frey, J. R. MacDonald, John Wei, 2017, Nature Neuroscience.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

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.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Daniele Merico, John Wei, Christian R Marshall, 2015, JAMA.

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

Ryan L. Collins, S. Scherer, J. Rosenfeld, 2017, American journal of medical genetics. Part A.

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Donna M. Martin, J. Rosenfeld, N. Boddaert, 2018, Human mutation.

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

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

Rehabilitation therapies in Rett syndrome across the lifespan: A scoping review of human and animal studies.

E. Condliffe, T. Dewan, M. Carter, 2020, Journal of pediatric rehabilitation medicine.

Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta‐analysis

P. Szatmari, Tracy Yuen, W. Ungar, 2018, Developmental medicine and child neurology.

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

S. Scherer, Irene E. Drmic, S. Walker, 2017, npj Genomic Medicine.

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

M. Goodell, L. Brunetti, M. Carter, 2021, Haematologica.

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations

R. Babul‐Hirji, M. Carter, P. Kannu, 2017, Hormone Research in Paediatrics.

Novel Insights from Clinical Practice

R. Babul‐Hirji, M. Carter, P. Kannu, 2014 .

Case 2: Gait disturbance with unilateral intoeing.

M. Carter, D. Fehlings, 2012, Paediatrics & child health.

Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

S. Schwartz, Soma Das, G. Raca, 2008, American journal of medical genetics. Part A.

Further clinical delineation of microcephaly‐capillary malformation syndrome

J. Graham, F. Alkuraya, M. Carter, 2022, American journal of medical genetics. Part A.

Germ‐line and somatic DICER1 mutations in a pleuropulmonary blastoma

W. Foulkes, N. Hamel, M. Meyn, 2013, Pediatric blood & cancer.

Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution.

G. Latino, P. Dirks, F. Ratjen, 2013, Pediatric neurology.

Middle and inner ear malformations in mutation‐proven branchio‐oculo‐facial (BOF) syndrome: Case series and review of the literature

B. Papsin, W. Reardon, W. Meschino, 2012, American journal of medical genetics. Part A.

Neurodevelopmental functioning in probands and non‐proband carriers of 22q11.2 microduplication

A. Bassett, D. Stavropoulos, M. Speevak, 2022, American journal of medical genetics. Part A.

Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices

M. Carter, A. Tsampalieros, R. Webster, 2021, American journal of medical genetics. Part A.

Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature

K. Boycott, K. Kernohan, S. Venkateswaran, 2019, Clinical genetics.

Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

E. Zackai, G. Wertheim, J. Maris, 2020, American journal of medical genetics. Part A.

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

M. Carter, H. McMillan, N. Weiss, 2019, Channels.

Response to phenotypic hetergeneity of POMT2 variants

L. Mertens, M. Carter, A. Guerin, 2018, American journal of medical genetics. Part A.

Cost-Effectiveness of Universal or High-Risk Screening Compared to Surveillance Monitoring in Autism Spectrum Disorder

P. Szatmari, Tracy Yuen, W. Ungar, 2018, Journal of Autism and Developmental Disorders.

Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with PHF6 mutations

A. Hunter, M. Carter, G. Graham, 2009, American journal of medical genetics. Part A.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, K. Boycott, D. Bulman, 2012, Orphanet Journal of Rare Diseases.

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.

M. Carter, E. Struys, M. Mahajnah, 2016, Pediatric neurology.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

J. Rosenfeld, D. Merico, A. C. Lionel, 2013 .

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

S. Scherer, D. Merico, C. Marshall, 2016, Scientific Reports.

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Ping-Yee B Au, M. Srour, M. Inbar‐Feigenberg, 2023, Journal of Medical Genetics.

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

John Wei, S. Scherer, D. Merico, 2019, npj Genomic Medicine.

Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder

P. Szatmari, Tracy Yuen, W. Ungar, 2018, Applied Health Economics and Health Policy.

Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

A. Bassett, D. Chitayat, V. Siu, 2015, American journal of medical genetics. Part A.

A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.

C. Marshall, S. Walker, M. Reuter, 2020, American journal of medical genetics. Part A.

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features

D. Stavropoulos, M. Carter, A. Guerin, 2016, American journal of medical genetics. Part A.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

B. Frey, Leo J. Lee, Soma Das, 2013, Nature Genetics.

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability

J. Vincent, M. Rafiq, A. Bhatti, 2016, Psychiatric genetics.

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

J. Vincent, M. Rafiq, E. Schaftingen, 2015, Clinical genetics.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

Beth K. Martin, J. Shendure, K. Friend, 2015, The Lancet Neurology.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

J. Vincent, M. Rafiq, H. Sticht, 2015, Human molecular genetics.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

M. Lyons, R. Person, C. Ferreira, 2019, European Journal of Human Genetics.

Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25.1-q26.3.

M. Carter, J. Richer, S. Dyack, 2010, Clinical dysmorphology.

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

E. Zackai, B. Emanuel, K. Boycott, 2009, American journal of medical genetics. Part A.

Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges

Steven P. Miller, S. Scherer, C. Marshall, 2021, American journal of medical genetics. Part A.

Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

R. Allibone, J. Crolla, D. Ellison, 2002, British Journal of Cancer.

Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing

S. Scherer, D. Merico, C. Marshall, 2016, American journal of medical genetics. Part A.

Risk of breast cancer not increased in translocation 11;22 carriers: Analysis of 80 pedigrees

B. Emanuel, K. Boycott, N. Barrowman, 2010, American journal of medical genetics. Part A.

Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation.

J. Allanson, M. Carter, F. Jacob, 2009, Clinical dysmorphology.

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

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

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient

K. Boycott, M. Carter, H. McMillan, 2009, Muscle & nerve.

Cost-Effectiveness of Universal or High-Risk Screening Compared to Surveillance Monitoring in Autism Spectrum Disorder

P. Szatmari, Tracy Yuen, W. Ungar, 2018, Journal of Autism and Developmental Disorders.

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication

M. Basik, J. McGowan-Jordan, M. Carter, 2011, American journal of medical genetics. Part A.

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies

L. Boccuto, M. Geraghty, R. Reichard, 2011, American journal of medical genetics. Part A.

Microcephaly–capillary malformation syndrome: A story of rapid emergence of a new recognizable entity

K. Boycott, M. Carter, 2011, American journal of medical genetics. Part A.

Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation

D. Dyment, M. Carter, P. Humphreys, 2018, Child neurology open.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Lijia Huang, K. Boycott, T. Hartley, 2016, American journal of medical genetics. Part A.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

M. Carter, E. Struys, L. Kyriakopoulou, 2014, Molecular genetics and metabolism reports.

Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.

S. Scherer, B. Chung, B. Fernandez, 2011, European journal of medical genetics.

Lateral Meningocele Syndrome

K. Gripp, M. Carter, Resham Ejaz, 2016 .

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

S. Robertson, K. Devriendt, M. Digilio, 2023, Journal of Medical Genetics.

Noncompaction cardiomyopathy in an infant with Walker–Warburg syndrome

C. Hawkins, L. Mertens, M. Carter, 2017, American journal of medical genetics. Part A.

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

Andrei L. Turinsky, S. Scherer, C. Cytrynbaum, 2019, Clinical Epigenetics.

The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt.

R. Jobling, C. Licht, M. Carter, 2013, Clinical dysmorphology.