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Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer

Cell reports (Cambridge), 2016-04, Vol.15 (3), p.599-610

2016

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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

American journal of human genetics, 2018-04, Vol.102 (4), p.696-705

2018

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Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion

Genes chromosomes & cancer, 2023-10, Vol.62 (10), p.611-616

2023

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Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion

Genes chromosomes & cancer, 2024-06, Vol.63 (6), p.e23251-n/a

2024

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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.570-578

2019

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Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing

PloS one, 2017-02, Vol.12 (2), p.e0170822-e0170822

2017

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Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

eLife, 2022-06, Vol.11

2022

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FusX: A Rapid One-Step Transcription Activator-Like Effector Assembly System for Genome Science

Human gene therapy, 2016-06, Vol.27 (6), p.451

2016

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SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA

Frontiers in genetics, 2021-10, Vol.12, p.739054-739054

2021

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Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

Journal of clinical immunology, 2018-04, Vol.38 (3), p.307-319

2018

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Holocarboxylase synthetase deficiency pre and post newborn screening

Molecular genetics and metabolism reports, 2016-06, Vol.7 (C), p.40-44

2016

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Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Biomolecules (Basel, Switzerland), 2020-09, Vol.10 (9), p.1314

2020

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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Neuron (Cambridge, Mass.), 2020-05, Vol.106 (3), p.404-420.e8

2020

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Clonal competition with alternating dominance in multiple myeloma

Blood, 2012-08, Vol.120 (5), p.1067-1076

2012

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No evidence of XMRV in prostate cancer cohorts in the Midwestern United States

Retrovirology, 2011-03, Vol.8 (1), p.23-23, Article 23

2011

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Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy

Acta neuropathologica communications, 2018-11, Vol.6 (1), p.118-118, Article 118

2018

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PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth

Modern pathology, 2020-03, Vol.33 (3), p.420-430

2020

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An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

HGG advances, 2020-10, Vol.1 (1), p.100006-100006, Article 100006

2020

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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

Annals of clinical and translational neurology, 2020-06, Vol.7 (6), p.1013-1028

2020

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The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Molecular genetics and metabolism reports, 2017-12, Vol.13 (C), p.46-51

2017

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Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.269-279

2017

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Maple syrup urine disease: mechanisms and management

Application of clinical genetics, 2017-01, Vol.10, p.57-66

2017

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Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome

Genes chromosomes & cancer, 2024-01, Vol.63 (1), p.e23195-n/a

2024

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Clinical and genomic characterization of an ATRA‐insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion

Genes chromosomes & cancer, 2023-10, Vol.62 (10), p.617-623

2023

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Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion

Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing

Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish

FusX: A Rapid One-Step Transcription Activator-Like Effector Assembly System for Genome Science

SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

Holocarboxylase synthetase deficiency pre and post newborn screening

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Clonal competition with alternating dominance in multiple myeloma

No evidence of XMRV in prostate cancer cohorts in the Midwestern United States

Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy

PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

Maple syrup urine disease: mechanisms and management

Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome

Clinical and genomic characterization of an ATRA‐insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion

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