David B. Goldstein
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View article: Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database Open
Incomplete penetrance, or absence of disease phenotype in an individual with a disease-associated variant, is a major challenge in variant interpretation. Studying individuals with apparent incomplete penetrance can shed light on underlyin…
View article: Asymmetric increase in episodic and procedural memory interference in older adults
Asymmetric increase in episodic and procedural memory interference in older adults Open
In younger adults, newly formed procedural memories are weakened by the subsequent formation of episodic memories (E→P interference) and vice versa (P→E interference; “cross-memory interference”). Older adults experience significant declin…
View article: Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases
Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases Open
View article: Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases
Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases Open
The etiology of prostate cancer, the second most common cancer in men globally, has a strong heritable component. While rare coding germline variants in several genes have been identified as risk factors from candidate gene and linkage stu…
View article: Mapping and characterization of structural variation in 17,795 human genomes
Mapping and characterization of structural variation in 17,795 human genomes Open
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and re…
View article: Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease Open
Background and Aims Nonalcoholic Fatty Liver Disease (NAFLD) is a complex human disease. Common genetic variation in the patatin-like phospholipase domain containing 3 ( PNPLA3 ) and transmembrane 6 superfamily member 2 ( TM6SF2 ) genes ha…
View article: Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability Open
Nascent proteins destined for the cell membrane and the secretory pathway are targeted to the endoplasmic reticulum (ER) either posttranslationally or cotranslationally. The signal-independent pathway, containing the protein TMEM208, is on…
View article: Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Open
View article: RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS Open
SUMMARY SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignm…
View article: Investigation of the genetic aetiology of Lewy body diseases with and without dementia
Investigation of the genetic aetiology of Lewy body diseases with and without dementia Open
Up to 80% of Parkinson's disease patients develop dementia, but time to dementia varies widely from motor symptom onset. Dementia with Lewy bodies presents with clinical features similar to Parkinson’s disease dementia, but cognitive impai…
View article: Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS Open
Background : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 30,000 people in the United States. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles …
View article: A genomic mutational constraint map using variation in 76,156 human genomes
A genomic mutational constraint map using variation in 76,156 human genomes Open
View article: Inferring compound heterozygosity from large-scale exome sequencing data
Inferring compound heterozygosity from large-scale exome sequencing data Open
View article: The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel Open
Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We developed a curated list of 502 genes for monogenic disorders a…
View article: Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease Open
View article: Aberrant Local Synchrony in Distinct Mouse Models of Epileptic Encephalopathy
Aberrant Local Synchrony in Distinct Mouse Models of Epileptic Encephalopathy Open
Identifying and quantifying synchronous activity of primary neuronal networks using multielectrode arrays (MEAs) can potentially provide a medium-throughput platform to screen potential therapeutics for genetic epileptic encephalopathies (…
View article: Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency Open
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for deve…
View article: Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies<i>ANTXR2</i>as a candidate in PLS
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies<i>ANTXR2</i>as a candidate in PLS Open
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 30,000 people in the United States. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles wh…
View article: Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load
Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load Open
Correction to: Nature https://doi.org/10.1038/s41586-023-06370-4 Published online 2 August 2023
In the version of the article originally published, the “Acknowledgements” section was missing the following funding statement:…
In the version of the article originally published, the “Acknowledgements” section was missing the following funding statement:…
View article: Strong protective effect of the<i>APOL1</i>p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease
Strong protective effect of the<i>APOL1</i>p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease Open
Black Americans have a significantly higher risk of developing chronic kidney disease (CKD), especially focal segmental glomerulosclerosis (FSGS), than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role…
View article: Africa-specific human genetic variation near CHD1L associates with HIV-1 load
Africa-specific human genetic variation near CHD1L associates with HIV-1 load Open
View article: Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor Open
De novo mutations in GNB1 , encoding the G β 1 subunit of G proteins, cause a neurodevelopmental disorder with global developmental delay and epilepsy, GNB1 encephalopathy. Here, we show that mice carrying a pathogenic mutation, K78R, reca…
View article: Investigation into the genetics of fetal congenital lymphatic anomalies
Investigation into the genetics of fetal congenital lymphatic anomalies Open
Objective Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often present in utero as pleural effusion, chylothorax, nuchal and soft tissue edema, ascites, or hydrops. Many LAs are caused by single nucl…
View article: Continuing a search for a diagnosis: the impact of adolescence and family dynamics
Continuing a search for a diagnosis: the impact of adolescence and family dynamics Open
The “diagnostic odyssey” describes the process those with undiagnosed conditions undergo to identify a diagnosis. Throughout this process, families of children with undiagnosed conditions have multiple opportunities to decide whether to co…
View article: Single Cell transcriptional analysis of<i>ex vivo</i>models of cortical and hippocampal development identifies unique longitudinal trends
Single Cell transcriptional analysis of<i>ex vivo</i>models of cortical and hippocampal development identifies unique longitudinal trends Open
Summary Postnatal cortical and hippocampal mouse primary neuronal cultures are powerful and widely-used models of neuronal activity and neurological disease. While this model is frequently used to recapitulate what is seen in vivo , how th…
View article: Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice
Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice Open
Generating effective therapies for neurodevelopmental disorders has remained elusive. An emerging drug discovery approach for neurodevelopmental disorders is to characterize transcriptome-wide dysregulation in an appropriate model system a…
View article: Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases Open
Purpose Drug development strategies for genetic diseases depend critically on accurate knowledge of how pathogenic variants cause disease. For some well‐studied genes, the direct effects of pathogenic variants are well documented as loss‐o…
View article: Risk Variants in the Exomes of Children With Critical Illness
Risk Variants in the Exomes of Children With Critical Illness Open
Importance Diagnostic genetic testing can lead to changes in management in the pediatric intensive care unit. Genetic risk in children with critical illness but nondiagnostic exome sequencing (ES) has not been explored. Objective To assess…
View article: Cookbook as National Restorative
Cookbook as National Restorative Open
Scholars credit Robert May and William Rabisha with a central role in the development of seventeenth-century English courtly cuisine. Focusing on a recipe common to both of them—the ‘bisque’ or ‘bisk’—I argue that in the hands of these aut…
View article: Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis Open
Background Whole genome sequencing (WGS) can detect variants and estimate telomere length. The clinical utility of WGS in estimating risk, progression and survival of pulmonary fibrosis patients is unknown. Methods In this observational co…