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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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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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Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia

Leukemia, 2011-06, Vol.25 (6), p.1042-1046

2011

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Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions

Human molecular genetics, 2003-09, Vol.12 (17), p.2153-2165

2003

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The Promise and Pitfalls of Telomere Region–Specific Probes

American journal of human genetics, 2000-11, Vol.67 (5), p.1356-1358

2000

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FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes

European journal of human genetics : EJHG, 2000-10, Vol.8 (10), p.764-770

2000

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Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Molecular syndromology, 2013-01, Vol.3 (6), p.247-254

2013

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Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

Molecular syndromology, 2012-09, Vol.3 (3), p.102-112

2012

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

Human molecular genetics, 2003-09, Vol.12 (17), p.2145-2152

2003

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Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements

Human genetics, 2004, Vol.114 (2), p.198-206

2004

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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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Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Human molecular genetics, 2009-04, Vol.18 (8), p.1377-1383

2009

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Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Genetics in medicine, 2009-11, Vol.11 (11), p.797-805

2009

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Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

Genetics in medicine, 2009-05, Vol.11 (5), p.314-322

2009

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Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis

Genetics in medicine, 2012-11, Vol.14 (11), p.914-921

2012

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Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

American journal of human genetics, 2003-05, Vol.72 (5), p.1200-1212

2003

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Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?

American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.259-267

2005

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The use of microarray technology for cytogenetics

Methods in molecular biology (Clifton, N.J.), 2010-01, Vol.632, p.125

2010

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Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations

Human genetics, 2006-11, Vol.120 (4), p.519-526

2006

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Selenium regulates expression in rat liver of genes for proteins involved in iron metabolism

Biological trace element research, 2000-04, Vol.74 (1), p.55-70

2000

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Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodeveiopmental disorders

Genetics in medicine, 2010-11, Vol.12 (11), p.694-702

2010

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Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.139-149

2005

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Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization

Prenatal diagnosis, 2006-04, Vol.26 (4), p.333-339

2006

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Array-based comparative genomic hybridization in clinical diagnosis

Expert review of molecular diagnostics, 2005-05, Vol.5 (3), p.421-429

2005

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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.528-540

2005

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

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

Microarray detection of multiple recurring submicroscopic chromosomal aberrations in pediatric T-cell acute lymphoblastic leukemia

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions

The Promise and Pitfalls of Telomere Region–Specific Probes

FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements

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

Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?

The use of microarray technology for cytogenetics

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations

Selenium regulates expression in rat liver of genes for proteins involved in iron metabolism

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodeveiopmental disorders

Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization

Array-based comparative genomic hybridization in clinical diagnosis

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

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