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Newborn and carrier screening for spinal muscular atrophy

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1608-1616

2010

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Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

BMC medical genomics, 2022-03, Vol.15 (1), p.56-56, Article 56

2022

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

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.57-63

2014

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Assessment of Liquid Microbead Arrays for the Screening of Newborns for Spinal Muscular Atrophy

Clinical chemistry (Baltimore, Md.), 2007-11, Vol.53 (11), p.1879-1885

2007

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Bringing Next-Generation Sequencing into the Classroom through a Comparison of Molecular Biology Techniques

The American biology teacher, 2014-08, Vol.76 (6), p.396-401

2014

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Impact of variant reclassification in the clinical setting of cardiovascular genetics

Journal of genetic counseling, 2021-04, Vol.30 (2), p.503-512

2021

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A feasibility study for the newborn screening of spinal muscular atrophy

Genetics in medicine, 2006-07, Vol.8 (7), p.428-437

2006

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Interpretation of Copy Number Alterations Identified Through Clinical Microarray-Comparative Genomic Hybridization

Clinics in laboratory medicine, 2011-12, Vol.31 (4), p.565-580

2011

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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

American journal of human genetics, 2011-10, Vol.89 (4), p.551-563

2011

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Understanding BRCA Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk

Journal of health communication, 2019-04, Vol.24 (4), p.377-384

2019

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CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders

European journal of medical genetics, 2020-01, Vol.63 (1), p.103636-103636, Article 103636

2020

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Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11

American journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1056-1060

2017

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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

American journal of human genetics, 2010-03, Vol.86 (3), p.454-461

2010

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Complex Brain Malformations Associated with Chromosome 6q27 Gain that Includes THBS2, Which Encodes Thrombospondin 2, an Astrocyte-Derived Protein of the Extracellular Matrix

Pediatric and developmental pathology, 2015-01, Vol.18 (1), p.59-65

2015

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Variability in pathogenicity prediction programs: impact on clinical diagnostics

Molecular genetics & genomic medicine, 2015-03, Vol.3 (2), p.99-110

2015

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12q14 microdeletion associated with HMGA2 gene disruption and growth restriction

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2925-2930

2012

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Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia

European journal of medical genetics, 2014-07, Vol.57 (7), p.315-318

2014

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Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel

The Journal of molecular diagnostics : JMD, 2011-03, Vol.13 (2), p.167-174

2011

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Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization

Forensic science international : genetics, 2013-09, Vol.7 (5), p.475-481

2013

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Mutation Screening in Juvenile Polyposis Syndrome

The Journal of molecular diagnostics : JMD, 2006-02, Vol.8 (1), p.84-88

2006

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Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

European journal of medical genetics, 2013-09, Vol.56 (9), p.521-525

2013

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Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1924-1933

2012

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Undergraduates as Science Museum Docents

The American biology teacher, 2009-01, Vol.71 (1), p.16

2009

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Undergraduates as Science Museum Docents: Training Students To Be the Teachers Using Peer Led Team Learning

The American biology teacher, 2009-01, Vol.71 (1), p.16-19

2009

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Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing

The Journal of molecular diagnostics : JMD, 2011, Vol.13 (2), p.167-174

2011

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Newborn and carrier screening for spinal muscular atrophy

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

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

Assessment of Liquid Microbead Arrays for the Screening of Newborns for Spinal Muscular Atrophy

Bringing Next-Generation Sequencing into the Classroom through a Comparison of Molecular Biology Techniques

Impact of variant reclassification in the clinical setting of cardiovascular genetics

A feasibility study for the newborn screening of spinal muscular atrophy

Interpretation of Copy Number Alterations Identified Through Clinical Microarray-Comparative Genomic Hybridization

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Understanding BRCA Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders

Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Complex Brain Malformations Associated with Chromosome 6q27 Gain that Includes THBS2, Which Encodes Thrombospondin 2, an Astrocyte-Derived Protein of the Extracellular Matrix

Variability in pathogenicity prediction programs: impact on clinical diagnostics

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia

Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization

Mutation Screening in Juvenile Polyposis Syndrome

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients

Undergraduates as Science Museum Docents

Undergraduates as Science Museum Docents: Training Students To Be the Teachers Using Peer Led Team Learning

Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing

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