Donna M. Brown
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View article: Study Design with Responsible Return of Results for a Fully Remote Genome Sequencing Study in Individuals with Prader-Willi Syndrome
Study Design with Responsible Return of Results for a Fully Remote Genome Sequencing Study in Individuals with Prader-Willi Syndrome Open
View article: Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins
Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins Open
Background Chorangiomas, benign proliferative capillary lesions in the placenta, occur in approximately 1% of births, typically as a solitary nodule. In rare cases, multiple nodules develop, posing risks of fetal heart failure, hydrops fet…
View article: Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization
Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization Open
Aim: The study aim was to determine caregiver interest and planned utilization of pharmacogenomic (PGx) results for their child with Prader-Willi syndrome. Methods: Caregivers consented to PGx testing for their child and comp…
View article: Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis
Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis Open
View article: 344 Unraveling the complexity of cystic fibrosis: genetic modifiers and their roles in cystic fibrosis pathogenesis
344 Unraveling the complexity of cystic fibrosis: genetic modifiers and their roles in cystic fibrosis pathogenesis Open
View article: Rosalution: Supporting data accessibility, integration,curation, interoperability, and reuse for precision animalmodeling
Rosalution: Supporting data accessibility, integration,curation, interoperability, and reuse for precision animalmodeling Open
Uno-Antonison et al., (2023). Rosalution: Supporting data accessibility, integration, curation, interoperability, and reuse for precision animal modeling. Journal of Open Source Software, 8(90), 5443, https://doi.org/10.21105/joss.05443
View article: Impact of intrinsic and extrinsic risk factors on early‐onset lung disease in cystic fibrosis
Impact of intrinsic and extrinsic risk factors on early‐onset lung disease in cystic fibrosis Open
Background Although respiratory pathology is known to develop in young children with cystic fibrosis (CF), the determinants of early‐onset lung disease have not been elucidated. Objective We aimed to determine the impact of potential intri…
View article: Supplemental Figures S1-S6 from Preclinical Efficacy of Bevacizumab with CRLX101, an Investigational Nanoparticle–Drug Conjugate, in Treatment of Metastatic Triple-Negative Breast Cancer
Supplemental Figures S1-S6 from Preclinical Efficacy of Bevacizumab with CRLX101, an Investigational Nanoparticle–Drug Conjugate, in Treatment of Metastatic Triple-Negative Breast Cancer Open
Bioluminescence imaging of mice bearing primary LM2-4 tumors (S1); Assessment of MVD, HIF-1α, and tumoral drug accumulation in PDX primary tumors (S2); Immunohistochemistry staining for CD31, CAIX, caspase 3, Ki67, and HIF-1α, as well as i…
View article: Data from Preclinical Efficacy of Bevacizumab with CRLX101, an Investigational Nanoparticle–Drug Conjugate, in Treatment of Metastatic Triple-Negative Breast Cancer
Data from Preclinical Efficacy of Bevacizumab with CRLX101, an Investigational Nanoparticle–Drug Conjugate, in Treatment of Metastatic Triple-Negative Breast Cancer Open
VEGF pathway–targeting antiangiogenic drugs, such as bevacizumab, when combined with chemotherapy have changed clinical practice for the treatment of a broad spectrum of human cancers. However, adaptive resistance often develops, and one m…
View article: Supplemental Figures S1-S6 from Preclinical Efficacy of Bevacizumab with CRLX101, an Investigational Nanoparticle–Drug Conjugate, in Treatment of Metastatic Triple-Negative Breast Cancer
Supplemental Figures S1-S6 from Preclinical Efficacy of Bevacizumab with CRLX101, an Investigational Nanoparticle–Drug Conjugate, in Treatment of Metastatic Triple-Negative Breast Cancer Open
Bioluminescence imaging of mice bearing primary LM2-4 tumors (S1); Assessment of MVD, HIF-1α, and tumoral drug accumulation in PDX primary tumors (S2); Immunohistochemistry staining for CD31, CAIX, caspase 3, Ki67, and HIF-1α, as well as i…
View article: TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system Open
Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cor…
View article: P492: Identification of molecular modifiers of disease in a group of systematically phenotyped patients with cystic fibrosis
P492: Identification of molecular modifiers of disease in a group of systematically phenotyped patients with cystic fibrosis Open
View article: P464: ROH pipeline enables analysis of regions of homozygosity using next generation sequencing data
P464: ROH pipeline enables analysis of regions of homozygosity using next generation sequencing data Open
View article: Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements
Genetic factors help explain the variable responses of young children with cystic fibrosis to vitamin D supplements Open
View article: DOCKopathies: A systematic review of the clinical pathologies associated with human <i>DOCK</i> pathogenic variants
DOCKopathies: A systematic review of the clinical pathologies associated with human <i>DOCK</i> pathogenic variants Open
The Dedicator of Cytokinesis (DOCK) family (DOCK1-11) of genes are essential mediators of cellular migration, growth, and fusion in a variety of cell types and tissues. Recent advances in whole-genome sequencing of patients with undiagnose…
View article: One is the loneliest number: genotypic matchmaking using the electronic health record
One is the loneliest number: genotypic matchmaking using the electronic health record Open
View article: Identification of Compound Heterozygous Mutation in HFE Gene in a Child with Cystic Fibrosis: A Case Report with Data on HFE Genetic Variants
Identification of Compound Heterozygous Mutation in HFE Gene in a Child with Cystic Fibrosis: A Case Report with Data on HFE Genetic Variants Open
View article: A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases Open
Every year individuals experience symptoms that remain undiagnosed by healthcare providers. In the United States, these rare diseases are defined as a condition that affects fewer than 200,000 individuals. However, there are an estimated 7…
View article: Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis Open
Variations in disease onset and/or severity have often been observed in siblings with cystic fibrosis (CF), despite the same CFTR genotype and environment. We postulated that genomic variation (modifier and/or pharmacogenomic variants) mig…
View article: VarSight: prioritizing clinically reported variants with binary classification algorithms
VarSight: prioritizing clinically reported variants with binary classification algorithms Open
Background When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the patient’s phenotypes. Typically, this is done through annotation, filtering, and then pr…
View article: De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects Open
View article: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia Open
View article: Genomics in medicine: a novel elective rotation for internal medicine residents
Genomics in medicine: a novel elective rotation for internal medicine residents Open
It is well recognised that medical training globally and at all levels lacks sufficient incorporation of genetics and genomics education to keep up with the rapid advances and growing application of genomics to clinical care. However, the …
View article: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia Open
View article: Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy Open
View article: Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification Open
View article: Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing
Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing Open
Purpose Clinical whole genome sequencing is becoming more common for determining the molecular diagnosis of rare disease. However, standard clinical practice often focuses on small variants such as single nucleotide variants and small inse…
View article: Heterozygous variants in <i>MYBPC1</i> are associated with an expanded neuromuscular phenotype beyond arthrogryposis
Heterozygous variants in <i>MYBPC1</i> are associated with an expanded neuromuscular phenotype beyond arthrogryposis Open
Encoding the slow skeletal muscle isoform of myosin binding protein-C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three inde…
View article: Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes Open
View article: VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms
VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms Open
Motivation In genomic medicine for rare disease patients, the primary goal is to identify one or more variants that cause their disease. Typically, this is done through filtering and then prioritization of variants for manual curation. How…