相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Respiratory decline in adult patients with Becker muscular dystrophy : A longitudinal study
Bram De Wel et al.
NEUROMUSCULAR DISORDERS (2021)
Systematic analysis of copy-number variations associated with early pregnancy loss
Y. Wang et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2020)
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)
Erin Rooney Riggs et al.
GENETICS IN MEDICINE (2020)
It's probably nothing, but horizontal ellipsis Couples' experiences of pregnancy following an uncertain prenatal genetic result
Stina Lou et al.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA (2020)
The clinical relevance of intragenic NRXN1 deletions
Nele Cosemans et al.
JOURNAL OF MEDICAL GENETICS (2020)
MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism
Patricia Mansfield et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2020)
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic
Cherisse A. Marcou et al.
GENETICS IN MEDICINE (2020)
A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency
Svetlana A. Yatsenko et al.
GENETICS IN MEDICINE (2019)
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
Dana Hollenbeck et al.
GENETICS IN MEDICINE (2017)
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Chelsea Lowther et al.
GENETICS IN MEDICINE (2017)
High-resolution copy number variation analysis of schizophrenia in Japan
I. Kushima et al.
MOLECULAR PSYCHIATRY (2017)
Inherited 2q23.1 microdeletions involving the MBD5 locus
Shereen Tadros et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2017)
Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus
Janet A. Buchanan et al.
JOURNAL OF MEDICAL GENETICS (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
Sureni V. Mullegama et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
Nicolas Wein et al.
NATURE MEDICINE (2014)
Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression
Sureni V. Mullegama et al.
MOLECULAR CYTOGENETICS (2014)
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability
Y. Qiao et al.
CLINICAL GENETICS (2013)
Women's experiences receiving abnormal prenatal chromosomal microarray testing results
Barbara A. Bernhardt et al.
GENETICS IN MEDICINE (2013)
Towards an evidence-based process for the clinical interpretation of copy number variation
E. R. Riggs et al.
CLINICAL GENETICS (2012)
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
Hutton M. Kearney et al.
GENETICS IN MEDICINE (2011)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Intragenic Rearrangements in NRXN1 in Three Families With Autism Spectrum Disorder, Developmental Delay, and Speech Delay
Barbara Wisniowiecka-Kowalnik et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2010)
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
Melanie Manning et al.
GENETICS IN MEDICINE (2010)
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories
Karen D. Tsuchiya et al.
GENETICS IN MEDICINE (2009)
Disruption of the neurexin 1 gene is associated with schizophrenia
Dan Rujescu et al.
HUMAN MOLECULAR GENETICS (2009)
分享论文
