David B. Goldstein
Columbia University in the City of New York
H-index: 138
North America-United States
Top articles of David B. Goldstein
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
The role of copy number variants in the genetic architecture of common familial epilepsies | Epilepsia | Epi4K Consortium Edith P Almanza Fuerte John Nguyen Michelle Mehaffey Arvis Sulovari | 2024/3 |
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability | Proceedings of the National Academy of Sciences | Debdeep Dutta Oguz Kanca Rishi V Shridharan Paul C Marcogliese Benjamin Steger | 2024/2/27 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease | medRxiv | Julia Wattacheril Sarah E Kleinstein Patrick R Shea Laura A Wilson G Mani Subramanian | 2024 |
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS | medRxiv | Avinash V Dharmadhikari Maria Alba Abad Sheraz Khan Reza Maroofian Tristan T Sands | 2024 |
Myosin mutations and sudden sensorineural hearing loss: results of whole exome sequencing | Otology & Neurotology | Rahul K Sharma Madeleine Drusin Joseph Hostyk Evan H Baugh Vimla S Aggarwal | 2023/1/1 |
Africa-specific human genetic variation near CHD1L associates with HIV-1 load | Nature | Paul J McLaren Immacolata Porreca Gennaro Iaconis Hoi Ping Mok Subhankar Mukhopadhyay | 2023/8/31 |
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel | Scientific reports | Xiao-Fei Kong Kelsie Bogyo Sheena Kapoor Patrick R Shea Emily E Groopman | 2023/12/6 |
Rare genetic variation and outcome of surgery for mesial temporal lobe epilepsy | Annals of neurology | Piero Perucca Kate Stanley Natasha Harris Anne M McIntosh Ali A Asadi‐Pooya | 2023/4 |
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases | Molecular Genetics & Genomic Medicine | Andrew K Ressler David B Goldstein | 2023/1 |
Strong protective effect of the APOL1 p. N264K variant against G2-associated FSGS and kidney disease | Y Gupta DJ Friedman M McNulty A Khan B Lane | 2023/8/4 | |
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease | Nature communications | Yask Gupta David J Friedman Michelle T McNulty Atlas Khan Brandon Lane | 2023/11/30 |
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing | Schizophrenia Research | Anna Alkelai Lior Greenbaum Shahar Shohat Gundula Povysil Ayan Malakar | 2023/2/1 |
C‐reactive protein is a prognostic biomarker in pancreatic ductal adenocarcinoma patients | Asia‐Pacific Journal of Clinical Oncology | Vanessa F Bonazzi Lauren G Aoude Sandra Brosda Julia J Bradford James M Lonie | 2023/7/6 |
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS | medRxiv | Tess D Pottinger Joshua E Motelow Gundula Povysil Cristiane A Martins Moreno Zhong Ren | 2023/10/2 |
Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice | Iscience | Andrew K Ressler Gabriela LA Sampaio Sarah A Dugger Tamar Sapir Daniel Krizay | 2023/1/20 |
Investigation into the genetics of fetal congenital lymphatic anomalies | Prenatal diagnosis | Daniella Rogerson Anna Alkelai Jessica Giordano Madhulatha Pantrangi Meng‐Chang Hsiao | 2023/6 |
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency | Plos Genetics | Sarah A Dugger Ryan S Dhindsa Gabriela De Almeida Sampaio Andrew K Ressler Elizabeth E Rafikian | 2023/10/2 |
Aberrant Local Synchrony in Distinct Mouse Models of Epileptic Encephalopathy | bioRxiv | Andrew Ressler Sarah Dugger Sophie Colombo Sabrina Petri Daniel Krizay | 2023 |
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor | Frontiers in Cellular Neuroscience | Sophie Colombo Haritha P Reddy Sabrina Petri Damian J Williams Boris Shalomov | 2023/5/18 |
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