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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

American journal of human genetics, 2014-11, Vol.95 (5), p.565-578

2014

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

NPJ precision oncology, 2020-02, Vol.4 (1), p.4-4, Article 4

2020

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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

Journal of medical genetics, 2011-12, Vol.48 (12), p.840-850

2011

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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Molecular cytogenetics, 2012-04, Vol.5 (1), p.17-17, Article 17

2012

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Human genetics, 2009-10, Vol.126 (4), p.589-602

2009

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Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1304-1307

2013

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A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes

Cancer, 2017-05, Vol.123 (10), p.1721-1730

2017

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Genetic evaluations and testing rates for hereditary breast and ovarian cancer syndrome in a community oncology setting

Journal of clinical oncology, 2023-06, Vol.41 (16_suppl), p.e22533-e22533

2023

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Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1588-1590

2010

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Nature genetics, 2009-12, Vol.41 (12), p.1269-1271

2009

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Germline testing in community oncology patients with somatic BRCA1/2 mutations

Journal of clinical oncology, 2021-05, Vol.39 (15_suppl), p.1523-1523

2021

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The incidence of germline cancer susceptibility mutations in primary CNS neoplasm patients

Journal of clinical oncology, 2018-05, Vol.36 (15_suppl), p.1586-1586

2018

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Expanding access to genetic evaluations in a large community oncology practice through a collaborative service delivery model

Journal of clinical oncology, 2019-09, Vol.37 (27_suppl), p.123-123

2019

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Legacy Genetic Testing Results for Cancer Susceptibility: How Common are Conflicting Classifications in a Large Variant Dataset from Multiple Practices?

Annals of surgical oncology, 2020-07, Vol.27 (7), p.2212-2220

2020

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GENE-39. UNANTICIPATED GERMLINE CANCER SUSCEPTIBILITY MUTATIONS IDENTIFIED DURING ROUTINE NEXT GENERATION SEQUENCING OF PRIMARY CNS NEOPLASMS

Neuro-oncology (Charlottesville, Va.), 2017-11, Vol.19 (suppl_6), p.vi100-vi101

2017

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A study of triple-negative breast cancer patients tested with a 25-gene panel of hereditary cancer genes

Journal of clinical oncology, 2015-05, Vol.33 (15_suppl), p.1067-1067

2015

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

NPJ precision oncology, 2020-02, Vol.4 (1), p.4

2020

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A small recurrent deletion within 15g13.3 is associated with a range of neurodevelopmental phenotypes

Nature genetics, 2009-12, Vol.41 (12), p.1269

2009

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Acute Respiratory Illnesses in Children in the SARS-CoV-2 Pandemic: Prospective Multicenter Study

Pediatrics (Evanston), 2021-08, Vol.148 (2), p.1

2021

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Adenosine Signaling Is Prognostic for Cancer Outcome and Has Predictive Utility for Immunotherapeutic Response

Clinical cancer research, 2020-05, Vol.26 (9), p.2176-2187

2020

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Abstract 13333: Review of Simultaneous Kidney and Heart Transplant After 2018: UNOS Data

Circulation (New York, N.Y.), 2023-11, Vol.148 (Suppl_1)

2023

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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

Detection of clinically relevant exonic copy-number changes by array CGH

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes

Genetic evaluations and testing rates for hereditary breast and ovarian cancer syndrome in a community oncology setting

Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

Germline testing in community oncology patients with somatic BRCA1/2 mutations

The incidence of germline cancer susceptibility mutations in primary CNS neoplasm patients

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Expanding access to genetic evaluations in a large community oncology practice through a collaborative service delivery model

Abstract P6-08-08: Concurrent DNA and RNA genetic testing identifies more patients with hereditary breast cancer than DNA testing alone

Legacy Genetic Testing Results for Cancer Susceptibility: How Common are Conflicting Classifications in a Large Variant Dataset from Multiple Practices?

GENE-39. UNANTICIPATED GERMLINE CANCER SUSCEPTIBILITY MUTATIONS IDENTIFIED DURING ROUTINE NEXT GENERATION SEQUENCING OF PRIMARY CNS NEOPLASMS

A study of triple-negative breast cancer patients tested with a 25-gene panel of hereditary cancer genes

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

A small recurrent deletion within 15g13.3 is associated with a range of neurodevelopmental phenotypes

Acute Respiratory Illnesses in Children in the SARS-CoV-2 Pandemic: Prospective Multicenter Study

2016 AHA/ACC Guideline on the Management of Patients With Lower Extremity Peripheral Artery Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines

Adenosine Signaling Is Prognostic for Cancer Outcome and Has Predictive Utility for Immunotherapeutic Response

Abstract 13333: Review of Simultaneous Kidney and Heart Transplant After 2018: UNOS Data

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