Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing

"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

(2020) Stina Lou et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

The clinical relevance of intragenic NRXN1 deletions

(2020) Nele Cosemans et al.   JOURNAL OF MEDICAL GENETICS

MYT1L : A systematic review of genetic variation encompassing schizophrenia and autism

(2020) Patricia Mansfield et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Limited diagnostic impact of duplications

(2020) Cherisse A. Marcou et al.   GENETICS IN MEDICINE

Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study

(2020) Bram De Wel et al.   NEUROMUSCULAR DISORDERS

A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency

(2019) Svetlana A. Yatsenko et al.   GENETICS IN MEDICINE

Systematic analysis of copy‐number variations associated with early pregnancy loss

(2019) Yan Wang et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

Inherited 2q23.1 microdeletions involving the MBD5 locus

(2017) Shereen Tadros et al.   Molecular Genetics & Genomic Medicine

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

(2016) Dana Hollenbeck et al.   GENETICS IN MEDICINE

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

(2016) Chelsea Lowther et al.   GENETICS IN MEDICINE

High-resolution copy number variation analysis of schizophrenia in Japan

(2016) I Kushima et al.   MOLECULAR PSYCHIATRY

Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus

(2015) Janet A Buchanan et al.   JOURNAL OF MEDICAL GENETICS

ClinGen — The Clinical Genome Resource

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

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

(2014) Nicolas Wein et al.   NATURE MEDICINE

Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression

(2014) Sureni V Mullegama et al.   Molecular Cytogenetics

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

(2013) Sureni V Mullegama et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Committee Opinion No. 581

(2013)   OBSTETRICS AND GYNECOLOGY

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

(2012) Y Qiao et al.   CLINICAL GENETICS

Women’s experiences receiving abnormal prenatal chromosomal microarray testing results

(2012) Barbara A. Bernhardt et al.   GENETICS IN MEDICINE

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

(2011) ER Riggs et al.   CLINICAL GENETICS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

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

Intragenic rearrangements inNRXN1in three families with autism spectrum disorder, developmental delay, and speech delay

(2010) Barbara Wiśniowiecka-Kowalnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC 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

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

(2009) Karen D Tsuchiya et al.   GENETICS IN MEDICINE

Disruption of the neurexin 1 gene is associated with schizophrenia

(2008) Dan Rujescu et al.   HUMAN MOLECULAR GENETICS