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

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

(2015)   GENETICS IN MEDICINE

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

(2014) Eleonora Di Gregorio et al.   Molecular Cytogenetics

Quality of life among parents of children with phenylketonuria (PKU)

(2013) Astrid Fidika et al.   Health and Quality of Life Outcomes

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions

(2012) Anne C. Madeo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

(2012) W. A. Gahl et al.   Disease Models & Mechanisms

Genetics in Arterial Calcification: Lessons Learned From Rare Diseases

(2012) Yvonne Nitschke et al.   TRENDS IN CARDIOVASCULAR MEDICINE

From Molecules to Behavior: Lessons from the Study of Rare Genetic Disorders

(2011) Pierre L. Roubertoux et al.   BEHAVIOR GENETICS

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life

(2011) Amber E. ten Hoedt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

The importance of rare diseases: from the gene to society

(2010) J. A. Dodge et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

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

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

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID

(2009) Nancy L. Makela et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

(2009) Gurdeep S Sagoo et al.   GENETICS IN MEDICINE

Effectiveness of a Family-oriented Rehabilitation Program on the Quality of Life of Parents of Chronically Ill Children

(2009) C. A. West et al.   KLINISCHE PADIATRIE

Why rare diseases are an important medical and social issue

(2008) Arrigo Schieppati et al.   LANCET