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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Genetics in medicine, 2013-11, Vol.15 (11), p.901-909

2013

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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

The New England journal of medicine, 2012-12, Vol.367 (23), p.2175-2184

2012

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1196-1201

2010

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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)

Genetics in medicine, 2018-10, Vol.20 (10), p.1105-1113

2018

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Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

European journal of medical genetics, 2016-09, Vol.59 (9), p.470-473

2016

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A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Cytogenetic and genome research, 2019-11, Vol.159 (1), p.19-25

2019

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Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

Prenatal diagnosis, 2009-12, Vol.29 (12), p.1156-1166

2009

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Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

Genetics in medicine, 2011-10, Vol.13 (10), p.868-880

2011

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Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1795-1801

2014

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Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

Journal of child neurology, 2019-02, Vol.34 (2), p.86-93

2019

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Human mutation, 2012-04, Vol.33 (4), p.728-740

2012

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Laboratory Aspects of Prenatal Microarray Analysis

Clinics in laboratory medicine, 2011-12, Vol.31 (4), p.615-630

Lamb, Allen N., PhD

2011

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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

Genome research, 2011-04, Vol.21 (4), p.535

2011

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Further clinical and molecular delineation of the 15q24 microdeletion syndrome

Journal of medical genetics, 2012-02, Vol.49 (2), p.110-118

2012

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8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

American journal of medical genetics. Part A, 2013-03, Vol.161A (3), p.487-500

2013

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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.345-353

2015

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Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1646-1653

2011

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The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes

Prenatal diagnosis, 2011-08, Vol.31 (8), p.778-787

2011

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Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1951-1959

2010

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Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1906-1916

2011

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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome

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)

Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Laboratory Aspects of Prenatal Microarray Analysis

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

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