Publications by authors named "David B Goldstein"

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The impact of TRPV4 pathogenic mutations on barrier integrity.
Gabriela Sampaio, Taylor Ismaili, Ali Torkamani, David G Breckenridge, Ashley Katana, David B Goldstein

Hum Mol Genet· April 2025

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Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.
Benjamin Wooden, Andrew Beenken, Elena Martinelli, Ken Saida, Andrea L Knob, David B Goldstein

J Am Soc Nephrol· February 2025

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands, David B Goldstein

Nat Commun· February 2025

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Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Paula Marques, Patrick B Moloney, Caihong Ji, Quratulain Zulfiqar Ali, Archana Ramesh, David B Goldstein

Epilepsy Res· October 2024

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, David B Goldstein

medRxiv· September 2024

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Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, David B Goldstein

BMC Genomics· June 2024

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Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease.
Julia Wattacheril, Sarah E Kleinstein, Patrick R Shea, Laura A Wilson, G Mani Subramanian, David B Goldstein

medRxiv· March 2024

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands, David B Goldstein

medRxiv· January 2024

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The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R Shea, Emily E Groopman, David B Goldstein

Sci Rep· December 2023

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Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies as a candidate in PLS.
Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, David B Goldstein

Res Sq· December 2023

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Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Yask Gupta, David J Friedman, Michelle T McNulty, Atlas Khan, Brandon Lane, David B Goldstein

Nat Commun· November 2023

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Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency.
Sarah A Dugger, Ryan S Dhindsa, Gabriela De Almeida Sampaio, Andrew K Ressler, Elizabeth E Rafikian, David B Goldstein

PLoS Genet· October 2023

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Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies as a candidate in PLS.
Tess D Pottinger, Joshua E Motelow, Gundula Povysil, Cristiane A Martins Moreno, Zhong Ren, David B Goldstein

medRxiv· October 2023

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Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
Paul J McLaren, Immacolata Porreca, Gennaro Iaconis, Hoi Ping Mok, Subhankar Mukhopadhyay, David B Goldstein

Nature· September 2023

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Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
Paul J McLaren, Immacolata Porreca, Gennaro Iaconis, Hoi Ping Mok, Subhankar Mukhopadhyay, David B Goldstein

Nature· August 2023

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Strong protective effect of the p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Yask Gupta, David J Friedman, Michelle McNulty, Atlas Khan, Brandon Lane, David B Goldstein

medRxiv· August 2023

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Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.
Sophie Colombo, Haritha P Reddy, Sabrina Petri, Damian J Williams, Boris Shalomov, David B Goldstein

Front Cell Neurosci· May 2023

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Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.
Anna Alkelai, Lior Greenbaum, Shahar Shohat, Gundula Povysil, Ayan Malakar, David B Goldstein

Schizophr Res· February 2023

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Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases.
Andrew K Ressler, David B Goldstein

Mol Genet Genomic Med· January 2023

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Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice.
Andrew K Ressler, Gabriela L A Sampaio, Sarah A Dugger, Tamar Sapir, Daniel Krizay, David B Goldstein

iScience· January 2023

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Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.
Piero Perucca, Kate Stanley, Natasha Harris, Anne M McIntosh, Ali A Asadi-Pooya, David B Goldstein

Ann Neurol· December 2022

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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, David B Goldstein

PLoS Genet· November 2022

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Risk Variants in the Exomes of Children With Critical Illness.
Joshua E Motelow, Natalie C Lippa, Joseph Hostyk, Evin Feldman, Matthew Nelligan, David B Goldstein

JAMA Netw Open· October 2022

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Natural Selection Shapes Codon Usage in the Human Genome.
Ryan S Dhindsa, Brett R Copeland, Anthony M Mustoe, David B Goldstein

Am J Hum Genet· August 2022

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The Research Program: Data quality, utility, and diversity.
Andrea H Ramirez, Lina Sulieman, David J Schlueter, Alese Halvorson, Jun Qian, David B Goldstein

Patterns (N Y)· August 2022

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