Congenital heart defects and copy number variants associated with neurodevelopmental impairment

Surveillance guidelines for children with trisomy 13

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Down syndrome

(2020) Stylianos E. Antonarakis et al.   Nature Reviews Disease Primers

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

(2020) Amber E. L. van Nisselrooij et al.   GENETICS IN MEDICINE

Screening for Fetal Chromosomal Abnormalities

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Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies

(2019) Yingjuan Liu et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Gastrostomy Tube Feeding in Extremely Low Birthweight Infants: Frequency, Associated Comorbidities, and Long-term Outcomes

(2019) Mollie G. Warren et al.   JOURNAL OF PEDIATRICS

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

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Impact of copy number variation on human neurocognitive deficits and congenital heart defects: A systematic review

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Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

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Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

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Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects

(2018) Sifa Turan et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

(2018) Sara M. Blazejewski et al.   Frontiers in Genetics

Small 4p16.3 deletions: Three additional patients and review of the literature

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Genetic evaluation of patients with congenital heart disease

(2018) Gabrielle C. Geddes et al.   CURRENT OPINION IN PEDIATRICS

Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype

(2018) Tingting Song et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

(2018) Mary Ella Pierpont et al.   CIRCULATION

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

(2017) Christel Depienne et al.   HUMAN GENETICS

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome andde novoduplication 3q26.32-q27.2

(2016) G.C. Dworschak et al.   CLINICAL GENETICS

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

(2016) Daniel Seung Kim et al.   JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY

Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature

(2016) Shaobin Lin et al.   Molecular Medicine Reports

Interstitial microdeletions including the chromosome band 4q13.2 and theUBA6gene as possible causes of intellectual disability and behavior disorder

(2015) Ines Quintela et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reduced Fetal Cerebral Oxygen Consumption Is Associated With Smaller Brain Size in Fetuses With Congenital Heart Disease

(2015) L. Sun et al.   CIRCULATION

Genetics and Genetic Testing in Congenital Heart Disease

(2015) Jason R. Cowan et al.   CLINICS IN PERINATOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

(2015) Devin Cox et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Fetal Growth and Neurodevelopmental Outcome in Congenital Heart Disease

(2015) Ismée A. Williams et al.   PEDIATRIC CARDIOLOGY

Neurodevelopmental Outcomes After Cardiac Surgery in Infancy

(2015) J. W. Gaynor et al.   PEDIATRICS

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis

(2015) F. A. R. Jansen et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

(2015) Juan Geng et al.   BMC GENOMICS

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

(2014) Barbara Vona et al.   BMC Medical Genetics

A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants

(2013) Tanis R Fenton et al.   BMC Pediatrics

Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects

(2013) Abigail S. Carey et al.   Circulation-Cardiovascular Genetics

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

(2013) Rebekah K. Jobling et al.   CLINICAL DYSMORPHOLOGY

Brain Volume and Neurobehavior in Newborns with Complex Congenital Heart Defects

(2013) Mallory Owen et al.   JOURNAL OF PEDIATRICS

Turner Syndrome

(2013) T. Milbrandt et al.   PEDIATRICS IN REVIEW

Brain abnormalities and neurodevelopmental delay in congenital heart disease: systematic review and meta-analysis

(2013) A. Khalil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2

(2012) Nathalie Van der Aa et al.   Autism Research

Delayed Cortical Development in Fetuses with Complex Congenital Heart Disease

(2012) C. Clouchoux et al.   CEREBRAL CORTEX

Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management

(2012) Bradley S. Marino et al.   CIRCULATION

Diagnostic interpretation of array data using public databases and internet sources

(2012) Nicole de Leeuw et al.   HUMAN MUTATION

The trisomy 18 syndrome

(2012) Anna Cereda et al.   Orphanet Journal of Rare Diseases

Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

(2012) Judith L. Ross et al.   PEDIATRICS

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

(2012) Patrícia BS Celestino-Soper et al.   Molecular Cytogenetics

Birth Prevalence of Congenital Heart Disease Worldwide

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The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment

(2010) Colleen A. Morris   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Monosomy 16q: a distinct syndrome Apropos of a de novo del(16) (q2100q2300)

(2010) Horacio Rivera et al.   CLINICAL GENETICS

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

Screening for fetal aneuploidy and neural tube defects

(2009) Deborah A Driscoll et al.   GENETICS IN MEDICINE

Jacobsen syndrome

(2009) Teresa Mattina et al.   Orphanet Journal of Rare Diseases

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

(2008) Josef Davidsson et al.   BMC Medical Genetics

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases

(2008) Sergio Tempesta et al.   European Journal of Medical Genetics

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS