Melissa T Carter

Melissa T Carter

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Melissa T Carter

Melissa T Carter

Publications by authors named "Melissa T Carter"

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46Publications

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Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Am J Med Genet A 2020 Jan 21. Epub 2020 Jan 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61475DOI Listing
January 2020

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.

Channels (Austin) 2019 12;13(1):153-161

b Institute of Organic Chemistry and Biochemistry , Czech Academy of Sciences , Prague , Czech Republic.

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http://dx.doi.org/10.1080/19336950.2019.1614415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527065PMC
December 2019

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

Clin Genet 2019 05 19;95(5):601-606. Epub 2019 Mar 19.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1111/cge.13523DOI Listing
May 2019

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

Dev Med Child Neurol 2018 11 11;60(11):1093-1100. Epub 2018 Jul 11.

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.

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http://doi.wiley.com/10.1111/dmcn.13964
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http://dx.doi.org/10.1111/dmcn.13964DOI Listing
November 2018

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

J Autism Dev Disord 2018 Sep;48(9):2968-2979

Institute of Heath Policy, Management and Evaluation, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1007/s10803-018-3571-4DOI Listing
September 2018

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

Appl Health Econ Health Policy 2018 Aug;16(4):481-493

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1007/s40258-018-0390-xDOI Listing
August 2018

Atypical Rett Syndrome and Intractable Epilepsy With Novel Mutation.

Child Neurol Open 2018 23;5:2329048X18787946. Epub 2018 Aug 23.

Division of Neurology, The Ottawa Hospital Civic Campus, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1177/2329048X18787946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108011PMC
August 2018

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

Horm Res Paediatr 2017 12;88(3-4):298-304. Epub 2017 Jun 12.

Department of Pediatrics, Division of Endocrinology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1159/000477242DOI Listing
June 2018

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

Am J Med Genet A 2017 Nov 5;173(11):3082-3086. Epub 2017 Oct 5.

Division of Medical Genetics, Department of Pediatrics, Kingston General Hospital, Queen's University, Kingston, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38394DOI Listing
November 2017

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

Nat Neurosci 2017 Apr 6;20(4):602-611. Epub 2017 Mar 6.

The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1038/nn.4524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501701PMC
April 2017

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

Psychiatr Genet 2016 Apr;26(2):66-73

aMolecular Neuropsychiatry and Development Lab, The Centre for Addiction & Mental Health (CAMH), The Campbell Family Brain Research Institute bDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children cDepartment of Medicine, Division of Neurology dDepartment of Psychiatry eInstitute of Medical Science, University of Toronto fKrembil Neuroscience Centre, Toronto Western Research Institute, Toronto gDepartment of Psychiatry, Division of Developmental Disabilities, Queen's University, Kingston, Ontario, Canada hAtta-ur-Rehman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan.

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http://dx.doi.org/10.1097/YPG.0000000000000114DOI Listing
April 2016

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

Am J Med Genet A 2016 Apr 11;170A(4):1070-5. Epub 2016 Jan 11.

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

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http://dx.doi.org/10.1002/ajmg.a.37541DOI Listing
April 2016

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

Am J Med Genet A 2016 Mar 8;170(3):712-6. Epub 2015 Dec 8.

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

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http://dx.doi.org/10.1002/ajmg.a.37483DOI Listing
March 2016

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

Am J Med Genet A 2015 Sep 6;167A(9):2098-102. Epub 2015 May 6.

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

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http://doi.wiley.com/10.1002/ajmg.a.37134
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http://dx.doi.org/10.1002/ajmg.a.37134DOI Listing
September 2015

Whole-genome sequencing of quartet families with autism spectrum disorder.

Nat Med 2015 Feb 26;21(2):185-91. Epub 2015 Jan 26.

1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/nm.3792DOI Listing
February 2015

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

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma.

Pediatr Blood Cancer 2013 Dec 19;60(12):2091-2. Epub 2013 Jul 19.

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/pbc.24692DOI Listing
December 2013

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

Pediatr Neurol 2013 Dec 27;49(6):445-50. Epub 2013 Sep 27.

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.07.021DOI Listing
December 2013

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

Clin Dysmorphol 2013 Oct;22(4):152-5

Divisions of aClinical and Metabolic Genetics bNephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000007DOI Listing
October 2013

Case 2: Gait disturbance with unilateral intoeing.

Paediatr Child Health 2012 Dec;17(10):569-70

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549696PMC
http://dx.doi.org/10.1093/pch/17.10.569aDOI Listing
December 2012

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

Am J Med Genet A 2012 Aug 18;158A(8):1977-81. Epub 2012 Jun 18.

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

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http://dx.doi.org/10.1002/ajmg.a.35436DOI Listing
August 2012

Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity.

Am J Med Genet A 2011 Sep 10;155A(9):2078-9. Epub 2011 Aug 10.

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

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http://dx.doi.org/10.1002/ajmg.a.34149DOI Listing
September 2011

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

Am J Med Genet A 2011 Feb;155A(2):301-6

Division of Developmental Pediatrics, Department of Pediatrics, Hospital for Sick Children, and Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33841
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http://dx.doi.org/10.1002/ajmg.a.33841DOI Listing
February 2011

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

Clin Dysmorphol 2010 Jul;19(3):140-5

Division of Developmental Paediatrics, Bloorview Kids Rehab, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/MCD.0b013e3283377915DOI Listing
July 2010

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

Am J Med Genet A 2010 Jan;152A(1):212-4

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2802109PMC
January 2010

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

Clin Dysmorphol 2009 Apr;18(2):103-6

Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1097/MCD.0b013e328325ee66DOI Listing
April 2009

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

Muscle Nerve 2009 Mar;39(3):396-9

Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/mus.21222DOI Listing
March 2009

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

Am J Med Genet A 2009 Feb;149A(2):246-50

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.32624
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http://dx.doi.org/10.1002/ajmg.a.32624DOI Listing
February 2009