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Estimates of penetrance for recurrent pathogenic copy-number variations

Genetics in medicine, 2013-06, Vol.15 (6), p.478-481

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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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

The New England journal of medicine, 2012-12, Vol.367 (23), p.2226-2232

2012

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Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Human molecular genetics, 2013-05, Vol.22 (9), p.1816-1825

2013

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Prenatal diagnosis, 2012-10, Vol.32 (10), p.986-995

2012

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Monosomy 1p36 deletion syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2007-11, Vol.145C (4), p.346-356

2007

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American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Genetics in medicine, 2005-11, Vol.7 (9), p.650-654

Shaffer, Lisa G.

2005

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

The Journal of pediatrics, 2006-07, Vol.149 (1), p.98-102.e5

2006

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The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

American journal of medical genetics. Part C, Seminars in medical genetics, 2007-11, Vol.145C (4), p.335-345

2007

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Genetics in medicine, 2007-09, Vol.9 (9), p.607-616

2007

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Detection of low-level mosaicism by array CGH in routine diagnostic specimens

American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2757-2767

2006

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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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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Clinical genetics, 2008-11, Vol.74 (5), p.469-475

2008

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

The New England journal of medicine, 2012-10, Vol.367 (14), p.1321-1331

2012

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From VACTERL‐H to heterotaxy: Variable expressivity of ZIC3—related disorders

American journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1123-1128

2011

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A cytogeneticist’s perspective on genomic microarrays

Human reproduction update, 2004-05, Vol.10 (3), p.221-226

2004

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Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation

Prenatal diagnosis, 2006-04, Vol.26 (4), p.303-307

Shaffer, Lisa G.

2006

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Human molecular genetics, 2011-10, Vol.20 (19), p.3769-3778

2011

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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Genetics in medicine, 2012-10, Vol.14 (10), p.868-876

2012

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Referral patterns for microarray testing in prenatal diagnosis

Prenatal diagnosis, 2012-06, Vol.32 (6), p.611-611

2012

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Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?

Prenatal diagnosis, 2011-03, Vol.31 (3), p.235-243

2011

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The Relationship Between Metabolic Syndrome and Mortality Among Patients With Acute Respiratory Distress Syndrome in Acute Respiratory Distress Syndrome Network and Prevention and Early Treatment of Acute Lung Injury Network Trials

Critical care medicine, 2024-03, Vol.52 (3), p.407-419

2024

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Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Journal of medical genetics, 2000-06, Vol.37 (6), p.428-433

2000

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Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.62-69

2014

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Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

Clinical genetics, 2003-10, Vol.64 (4), p.310-316

2003

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Estimates of penetrance for recurrent pathogenic copy-number variations

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Monosomy 1p36 deletion syndrome

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

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

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

From VACTERL‐H to heterotaxy: Variable expressivity of ZIC3—related disorders

A cytogeneticist’s perspective on genomic microarrays

Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Referral patterns for microarray testing in prenatal diagnosis

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?

The Relationship Between Metabolic Syndrome and Mortality Among Patients With Acute Respiratory Distress Syndrome in Acute Respiratory Distress Syndrome Network and Prevention and Early Treatment of Acute Lung Injury Network Trials

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

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