Genetic Testing in Neurodevelopmental Disorders

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

(2021) Andrés Moreno-De-Luca et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2020) Isabelle Cleynen et al.   MOLECULAR PSYCHIATRY

Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders

(2020) Lauren A. Borch et al.   GENETICS IN MEDICINE

Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample

(2020) Daniel Moreno-De-Luca et al.   JAMA Psychiatry

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

(2020) Sheng Chih Jin et al.   NATURE GENETICS

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

(2020) Jasmine L. F. Fung et al.   npj Genomic Medicine

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

(2020) Gregory Costain et al.   JAMA Network Open

Diagnostic yield of genetic tests in epilepsy

(2019) Iván Sánchez Fernández et al.   NEUROLOGY

Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions

(2019) Xin Li et al.   Journal of Genetic Counseling

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

(2019) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

(2019) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

What are neurodevelopmental disorders?

(2019) Fatima Y. Ismail et al.   CURRENT OPINION IN NEUROLOGY

A genetic counseling needs assessment of Mexico

(2019) Daiana Bucio et al.   Molecular Genetics & Genomic Medicine

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

(2019) Siddharth Srivastava et al.   GENETICS IN MEDICINE

Reanalysis of Clinical Exome Sequencing Data

(2019) Pengfei Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

(2019) Audrey Thurm et al.   Frontiers in Psychiatry

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

(2019) Robert Pilarski   Cancers

An Integrated Approach to Genetic Test Stewardship: The Role of Laboratory Genetic Counselors in Test Preauthorization and Ordering

(2019) Jessie Conta et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

(2019) Julia R. Trosman et al.   GENETICS IN MEDICINE

Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009–2017

(2019) Benjamin Zablotsky et al.   PEDIATRICS

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

(2019) Karen E. Wain et al.   GENETICS IN MEDICINE

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)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

(2019) Saskia C Sanderson et al.   BMJ Open

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

(2019) Olafur O. Gudmundsson et al.   Translational Psychiatry

Parents’ perceptions of personal utility of exome sequencing results

(2019) Lonna Mollison et al.   GENETICS IN MEDICINE

Identification, Evaluation, and Management of Children With Autism Spectrum Disorder

(2019) Susan L. Hyman et al.   PEDIATRICS

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine

(2018) Katie Stoll et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genetic counseling globally: Where are we now?

(2018) Kelly E. Ormond et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical providers’ experiences with returning results from genomic sequencing: an interview study

(2018) Julia Wynn et al.   BMC Medical Genomics

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

(2018) Yanjie Fan et al.   BMC Medical Genomics

Genetic counselling in the era of genomic medicine

(2018) Christine Patch et al.   BRITISH MEDICAL BULLETIN

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

(2018) Terry Vrijenhoek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

(2018) Oliver James Dillon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Measuring coverage and accuracy of whole-exome sequencing in clinical context

(2018) Sek Won Kong et al.   GENETICS IN MEDICINE

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

(2018) Lisa J Ewans et al.   GENETICS IN MEDICINE

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

(2018) Darrel Waggoner et al.   GENETICS IN MEDICINE

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

(2018) Kelly E. Ormond et al.   GENETICS IN MEDICINE

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

(2018) Allyn McConkie-Rosell et al.   Journal of Genetic Counseling

Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies

(2018) Kara R. Vogel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

(2018) Else Eising et al.   MOLECULAR PSYCHIATRY

Genetic Counseling in Pediatrics

(2018) Quinn Stein et al.   PEDIATRICS IN REVIEW

Identification of rare de novo epigenetic variations in congenital disorders

(2018) Mafalda Barbosa et al.   Nature Communications

Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders

(2018) Mingyu Xu et al.   Neuroscience Bulletin

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

(2018) Christopher CY Mak et al.   npj Genomic Medicine

Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist

(2018) Toni Kasole Lubala et al.   Molecular Genetics & Genomic Medicine

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

(2018) Maryam Al-Nabhani et al.   CLINICAL GENETICS

Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms

(2018) Danya F. Vears et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Live fast, die young? A review on the developmental trajectories of ADHD across the lifespan

(2018) Barbara Franke et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

(2018) Lucilla Pizzo et al.   GENETICS IN MEDICINE

Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

(2018) Celeste Eno et al.   GENETICS IN MEDICINE

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

De novo mutations in regulatory elements in neurodevelopmental disorders

(2018) Patrick J. Short et al.   NATURE

Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders

(2018) Ny Hoang et al.   npj Genomic Medicine

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

(2018) Rick M. Tankard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

(2018) Francesca M. Snoeijen-Schouwenaars et al.   EPILEPSIA

1 in 38 individuals at risk of a dominant medically actionable disease

(2018) Lonneke Haer-Wigman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

(2018) Daniele Carrieri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Global State of the Genetic Counseling Profession

(2018) MaryAnn Abacan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

(2018) Lina Basel Salmon et al.   GENETICS IN MEDICINE

Atypical cerebral palsy: genomics analysis enables precision medicine

(2018) Allison M. Matthews et al.   GENETICS IN MEDICINE

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

(2018) Karen L. David et al.   GENETICS IN MEDICINE

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

(2018) Daniel S. Marchuk et al.   PLoS One

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

(2018) Sheng Wang et al.   Cell Reports

Age-related phenotype and biomarker changes in SSADH deficiency

(2018) Melissa L. DiBacco et al.   Annals of Clinical and Translational Neurology

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

(2018) Mark A. Corbett et al.   npj Genomic Medicine

Clinical whole-exome sequencing results impact medical management

(2018) Nancy Niguidula et al.   Molecular Genetics & Genomic Medicine

The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors

(2017) Anna Middleton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fragile X testing as a second-tier test

(2017) Taila Hartley et al.   GENETICS IN MEDICINE

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

(2017) Sureni V Mullegama et al.   GENETICS IN MEDICINE

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

(2017) Mehdi Zarrei et al.   GENETICS IN MEDICINE

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

(2017) Dustin Baldridge et al.   GENETICS IN MEDICINE

Pathways from autism spectrum disorder diagnosis to genetic testing

(2017) Krysta S Barton et al.   GENETICS IN MEDICINE

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

(2017) Erica D. Smith et al.   HUMAN MUTATION

Clinical Diagnostic Genetic Testing for Individuals With Developmental Disorders

(2017) Rebecca A. Muhle et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Copy Number Variation in Tourette Syndrome

(2017) Anne S. Bassett et al.   NEURON

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

(2017) A. Jeremy Willsey et al.   NEURON

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

(2017) Alden Y. Huang et al.   NEURON

Drug Treatment of Seizures and Epilepsy in Newborns and Children

(2017) Louis T. Dang et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders

(2017) Mari Rossi et al.   PEDIATRIC NEUROLOGY

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

(2017) Holly LaDuca et al.   PLoS One

Schizophrenia and the neurodevelopmental continuum:evidence from genomics

(2017) Michael J. Owen et al.   World Psychiatry

Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling

(2017) Michael S. Wilkes et al.   BMC Medical Education

When Should Genetic Testing Be Performed in Epilepsy Patients?

(2017) Annapurna Poduri   Epilepsy Currents

Genomic diagnosis for children with intellectual disability and/or developmental delay

(2017) Kevin M. Bowling et al.   Genome Medicine

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

(2017) Xiaowei Sylvia Chen et al.   Scientific Reports

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

(2016) Robert C. Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

“It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result

(2016) Ella J. Wilkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clashing Diagnostic Approaches: DSM-ICD Versus RDoC

(2016) Scott O. Lilienfeld et al.   Annual Review of Clinical Psychology

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective

(2016) Kristien Hens et al.   European Journal of Medical Genetics

Recommendations for the integration of genomics into clinical practice

(2016) Sarah Bowdin et al.   GENETICS IN MEDICINE

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

(2016) Aaron M. Wenger et al.   GENETICS IN MEDICINE

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome

(2016) Christopher A. Wassif et al.   GENETICS IN MEDICINE

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

(2016) Glen R. Monroe et al.   GENETICS IN MEDICINE

Whole Exome Sequencing in Pediatric Neurology Patients

(2016) Danielle Nolan et al.   JOURNAL OF CHILD NEUROLOGY

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

(2016) Lotte Krabbenborg et al.   Journal of Genetic Counseling

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling

(2016) Debra Lochner Doyle et al.   Journal of Genetic Counseling

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

(2016) Randi J. Hagerman et al.   Nature Reviews Neurology

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

(2016) Karen S. Ho et al.   Biomed Research International

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

(2016) Andrea J. Gonzalez-Mantilla et al.   JAMA Psychiatry

Rare copy number variants are common in young children with autism spectrum disorder

(2015) Mats Anders Eriksson et al.   ACTA PAEDIATRICA

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Practical considerations in the clinical application of whole-exome sequencing

(2015) V. Shashi et al.   CLINICAL GENETICS

Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life

(2015) M. Lingen et al.   CLINICAL GENETICS

Obtaining genetic testing in pediatric epilepsy

(2015) Margie A. Ream et al.   EPILEPSIA

What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians

(2015) E. Kate Reed et al.   GENETICS IN MEDICINE

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

(2015)   GENETICS IN MEDICINE

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

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

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

(2015) Yu Sun et al.   HUMAN MUTATION

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

(2015) Anthony A. Philippakis et al.   HUMAN MUTATION

Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes

(2015) Merlin Butler et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling

(2015) R. Z. Hayeems et al.   Journal of Genetic Counseling

Parents’ Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis

(2015) Lesli A. Kiedrowski et al.   Journal of Genetic Counseling

Monogenic and chromosomal causes of isolated speech and language impairment

(2015) C P Barnett et al.   JOURNAL OF MEDICAL GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

(2015) G McMichael et al.   MOLECULAR PSYCHIATRY

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Copy number variations in cryptogenic cerebral palsy

(2015) R. Segel et al.   NEUROLOGY

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Brain disorders? Precisely

(2015) T. R. Insel et al.   SCIENCE

How to know when physicians are ready for genomic medicine

(2015) Jason L. Vassy et al.   Science Translational Medicine

Clinically relevant copy number variations detected in cerebral palsy

(2015) Maryam Oskoui et al.   Nature Communications

Clinical Genetic Testing in Epilepsy

(2015) Heather C. Mefford   Epilepsy Currents

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions

(2015) Andres Moreno-De-Luca et al.   JAMA Psychiatry

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

(2015) Marta Codina-Solà et al.   Molecular Autism

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

(2015) C. Alexander Valencia et al.   Frontiers in Pediatrics

Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)

(2014) Michael L. Cuccaro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epidemiology of fragile X syndrome: A systematic review and meta-analysis

(2014) Jessica Hunter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical whole exome sequencing in child neurology practice

(2014) Siddharth Srivastava et al.   ANNALS OF NEUROLOGY

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

Preferences for results from genomic microarrays: comparing parents and health care providers

(2014) E. Turbitt et al.   CLINICAL GENETICS

An approach to pediatric exome and genome sequencing

(2014) Leslie G. Biesecker et al.   CURRENT OPINION IN PEDIATRICS

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray

(2014) Robin Z Hayeems et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

The impact of chromosomal microarray on clinical management: a retrospective analysis

(2014) Lindsay B. Henderson et al.   GENETICS IN MEDICINE

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

(2014) Kyle Retterer et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Considering specific clinical features as evidence of pathogenic copy number variants

(2014) Egle Preiksaitiene et al.   JOURNAL OF APPLIED GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases

(2014) Xiaolin Zhu et al.   NATURE NEUROSCIENCE

Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

(2014) J. B. Moeschler et al.   PEDIATRICS

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

(2014) Maggie Brett et al.   PLoS One

Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil

(2014) Rodrigo Roncato Pereira et al.   PLoS One

The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong

(2014) Victoria Q. Tao et al.   PLoS One

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Familial risk of cerebral palsy: population based cohort study

(2014) M. C. Tollanes et al.   BMJ-British Medical Journal

Genetic counselors and the future of clinical genomics

(2014) Barbara Bernhardt   Genome Medicine

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective

(2014) Gary J. Latham et al.   Frontiers in Genetics

Are There Cultural Differences in Parental Interest in Early Diagnosis and Genetic Risk Assessment for Autism Spectrum Disorder?

(2014) Claire Amiet et al.   Frontiers in Pediatrics

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

(2013) Sarah L. Nolin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fragile X syndrome testing in the North West

(2013) K. Smith et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Chromosomal microarray impacts clinical management

(2013) E.R. Riggs et al.   CLINICAL GENETICS

‘Information is information’: a public perspective on incidental findings in clinical and research genome-based testing

(2013) S Daack-Hirsch et al.   CLINICAL GENETICS

Providing family guidance in rapidly shifting sand: informed consent for genetic testing

(2013) Julie Cohen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Rare copy number variation in cerebral palsy

(2013) Gai McMichael et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

(2013) Caroline Nava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

(2013) Agatino Battaglia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

(2013) Jennifer L. Roberts et al.   GENE

Physicians' Preparedness for Integration of Genomic and Pharmacogenetic Testing into Practice Within a Major Healthcare System

(2013) Christina G. Selkirk et al.   Genetic Testing and Molecular Biomarkers

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

(2013) Kristin G. Monaghan et al.   GENETICS IN MEDICINE

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

(2013) G. Bradley Schaefer et al.   GENETICS IN MEDICINE

Incidental findings in clinical genomics: a clarification

(2013)   GENETICS IN MEDICINE

Autism genetic testing: a qualitative study of awareness, attitudes and experiences among parents of children with autism spectrum disorders

(2013) Lei-Shih Chen et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

(2013) Catherine W. Rehder et al.   GENETICS IN MEDICINE

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

(2013) Magdalena Bartnik et al.   JOURNAL OF APPLIED GENETICS

A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome-Wide Testing in Pediatric Clinical Practice

(2013) Marian Reiff et al.   Journal of Genetic Counseling

Medical Genetics and Genetic Counseling in Chile

(2013) Sonia B. Margarit et al.   Journal of Genetic Counseling

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

(2013) Andres Moreno-De-Luca et al.   LANCET NEUROLOGY

Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: A New Zealand perspective

(2013) ELAINE DOHERTY et al.   Molecular Medicine Reports

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

(2013) S. A. Mullen et al.   NEUROLOGY

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

(2013) Jillian Nicholl et al.   PATHOLOGY

Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

(2013) Darcy A. Krueger et al.   PEDIATRIC NEUROLOGY

Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study

(2013) Cha Gon Lee et al.   YONSEI MEDICAL JOURNAL

From genetic counseling to “genomic counseling”

(2013) Kelly E. Ormond   Molecular Genetics & Genomic Medicine

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families

(2012) M Reiff et al.   CLINICAL GENETICS

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?

(2012) M Shoukier et al.   CLINICAL GENETICS

Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders

(2012) Vivien Narcisa et al.   CLINICAL PEDIATRICS

mTOR Inhibitors in Tuberous Sclerosis Complex

(2012) Paolo Curatolo et al.   Current Neuropharmacology

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

(2012) Jennifer J.S. Laffin et al.   GENETICS IN MEDICINE

Incidental copy-number variants identified by routine genome testing in a clinical population

(2012) Philip M. Boone et al.   GENETICS IN MEDICINE

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

(2012) Kristen Lipscomb Sund et al.   GENETICS IN MEDICINE

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

(2012) Marian Reiff et al.   GENETICS IN MEDICINE

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation

(2012) Kimberly Vande Wydeven et al.   Journal of Genetic Counseling

Unintended Diagnosis of Von Hippel Lindau Syndrome Using Array Comparative Genomic Hybridization (CGH): Counseling Challenges Arising from Unexpected Information

(2012) Jennifer Hogan et al.   Journal of Genetic Counseling

Attitudes and Practices Among Internists Concerning Genetic Testing

(2012) Robert Klitzman et al.   Journal of Genetic Counseling

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

(2012) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

Neurodevelopmental model of schizophrenia: update 2012

(2012) J L Rapoport et al.   MOLECULAR PSYCHIATRY

Genetic architectures of psychiatric disorders: the emerging picture and its implications

(2012) Patrick F. Sullivan et al.   NATURE REVIEWS GENETICS

Genomics, Intellectual Disability, and Autism

(2012) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Utility of Chromosomal Microarray Analysis

(2012) J. W. Ellison et al.   PEDIATRICS

Genetic and environmental influences on adult attention deficit hyperactivity disorder symptoms: a large Swedish population-based study of twins

(2012) H. Larsson et al.   PSYCHOLOGICAL MEDICINE

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

Solving the Puzzle: Case Examples of Array Comparative Genomic Hybridization as a Tool to End the Diagnostic Odyssey

(2012) Amelia R. Mroch et al.   Current Problems in Pediatric and Adolescent Health Care

High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters

(2012) Pauline Chaste et al.   Molecular Autism

Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations

(2011) Emmanuel Peprah   ANNALS OF HUMAN GENETICS

Neurodevelopmental hypothesis of schizophrenia

(2011) Michael J. Owen et al.   BRITISH JOURNAL OF PSYCHIATRY

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Diagnostic Yield of Genetic Testing in Children Diagnosed With Autism Spectrum Disorders at a Regional Referral Center

(2011) Jessica Roesser   CLINICAL PEDIATRICS

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait

(2011) Michael R. Johnson et al.   EPILEPSY & BEHAVIOR

GLUT1 deficiency syndrome in clinical practice

(2011) Joerg Klepper   EPILEPSY RESEARCH

Differentiating Diseases: TheCentrumof Differential Diagnosis in the Evolution of Oslerian Medicine

(2011) John Pearn   Fetal and Pediatric Pathology

Chromosomal microarray testing influences medical management

(2011) Michael E. Coulter et al.   GENETICS IN MEDICINE

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

(2011) G. Pichert et al.   JOURNAL OF MEDICAL GENETICS

Fragile X-associated disorders: a clinical overview

(2011) Anne Gallagher et al.   JOURNAL OF NEUROLOGY

Varieties of Uncertainty in Health Care

(2011) Paul K. J. Han et al.   MEDICAL DECISION MAKING

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2011) D. J. Michelson et al.   NEUROLOGY

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males

(2010) Stephen C. Collins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

(2010) Anna Bremer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

The Diagnosis of Mental Disorders: The Problem of Reification

(2010) Steven E. Hyman   Annual Review of Clinical Psychology

Impaired Intellect and Memory

(2010) Timothea Toulopoulou et al.   ARCHIVES OF GENERAL PSYCHIATRY

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

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

(2010) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

(2010) Y. Qiao et al.   HUMAN GENETICS

Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation

(2010) G. Bradley Schaefer et al.   JOURNAL OF CHILD NEUROLOGY

Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation

(2010) Bixia Xiang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

(2010) Nigel M Williams et al.   LANCET

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

(2010) K-P Lesch et al.   MOLECULAR PSYCHIATRY

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

(2010) Stephen C. Collins et al.   PLoS One

Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12–14, 2006

(2009) Bruce R Korf et al.   GENETICS IN MEDICINE

How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay

(2009) Jennifer Saam et al.   GENETICS IN MEDICINE

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

(2009) Sara Anne Adams et al.   GENETICS IN MEDICINE

Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics

(2009) Allan L. Reiss   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

Relationship between clinical and neuropsychological characteristics in child and adolescent first degree relatives of subjects with schizophrenia

(2009) Elena de la Serna et al.   SCHIZOPHRENIA RESEARCH

Molecular testing: improving patient care through partnering with laboratory genetic counselors

(2008) Cheryl Scacheri et al.   GENETICS IN MEDICINE