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Author Details

David B Goldstein
Institute for Genomic Medicine, Columbia University Irving Medical Center
1992
386
99
Andrej Sali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36509433Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing.Otol Neurotol2023
38036523Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nat Commun2023
37670157Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
36509433Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing.Otol Neurotol2023
37275776Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.Front Cell Neurosci2023
36645932Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.Schizophr Res2023
36959127Investigation into the genetics of fetal congenital lymphatic anomalies.Prenat Diagn2023
37670157Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
38036523Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nat Commun2023
36959127Investigation into the genetics of fetal congenital lymphatic anomalies.Prenat Diagn2023
37275776Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.Front Cell Neurosci2023
36645932Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.Schizophr Res2023
34743040Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.Bone2022
36306130Risk Variants in the Exomes of Children With Critical Illness.JAMA Netw Open2022
36173112Concordance of SARS-CoV-2 Antibody Results during a Period of Low Prevalence.mSphere2022
36028256Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.Eur Respir J2022
35931054Natural Selection Shapes Codon Usage in the Human Genome.Am J Hum Genet2022
35864088Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex.Nat Commun2022
35417304Rare and Common Variants in <i>KIF15</i> Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.Am J Respir Crit Care Med2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35413058A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population.PLoS One2022
35666822Genome-wide Enrichment of <i>TERT</i> Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry.Am J Respir Crit Care Med2022
36534060Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.Ann Neurol2022
36594023Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice.iScience2022
34799694The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.Mol Psychiatry2022
34743040Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.Bone2022
35298028A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.Epilepsia2022
34569149Genomic analysis of "microphenotypes" in epilepsy.Am J Med Genet A2022
34849577Focused goodness of fit tests for gene set analyses.Brief Bioinform2022
35137044Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Hum Mol Genet2022
34411415Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?BJOG2022
35666822Genome-wide Enrichment of <i>TERT</i> Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry.Am J Respir Crit Care Med2022
35417304Rare and Common Variants in <i>KIF15</i> Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.Am J Respir Crit Care Med2022
35413058A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population.PLoS One2022
36534060Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.Ann Neurol2022
36594023Evidence of shared transcriptomic dysregulation of HNRNPU-related disorder between human organoids and embryonic mice.iScience2022
36306130Risk Variants in the Exomes of Children With Critical Illness.JAMA Netw Open2022
36173112Concordance of SARS-CoV-2 Antibody Results during a Period of Low Prevalence.mSphere2022
35931054Natural Selection Shapes Codon Usage in the Human Genome.Am J Hum Genet2022
35864088Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex.Nat Commun2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
36028256Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.Eur Respir J2022
34849577Focused goodness of fit tests for gene set analyses.Brief Bioinform2022
35298028A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.Epilepsia2022
35137044Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.Hum Mol Genet2022
34411415Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?BJOG2022
34569149Genomic analysis of "microphenotypes" in epilepsy.Am J Med Genet A2022
34799694The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.Mol Psychiatry2022
32948840Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia.J Hum Genet2021
34115965Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.Am J Hum Genet2021
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Collaborators

Kevin V Shianna
Illumina Inc. 5200 Illumina Way
Co-authored papers 59
Erin L Heinzen
University of North Carolina at Chapel Hill.
Co-authored papers 54
Dongliang Ge
Department of Pharmacy, Liyang People's Hospital
Co-authored papers 40
Anna C Need
Imperial College London
Co-authored papers 39
Jacques Fellay
Ecole Polytechnique Federale de Lausanne
Co-authored papers 35
Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 32
Thomas J Urban
Eshelman School of Pharmacy, University of North Carolina
Co-authored papers 28
Nicholas W Wood
UCL Queen Square Institute of Neurology
Co-authored papers 27
Elizabeth T Cirulli
Duke University
Co-authored papers 26
Andrew S Allen
Duke University School of Medicine
Co-authored papers 25
Michael E Weale
Co-authored papers 24
Vandana Shashi
Duke University School of Medicine
Co-authored papers 23
Chantal Depondt
Hopital Universitaire de Bruxelles - Hopital Erasme
Co-authored papers 22
Gianpiero L Cavalleri
School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
Co-authored papers 22
Norman Delanty
FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
Co-authored papers 19
Ingrid E Scheffer
Co-authored papers 18
Nicole Soranzo
Wellcome Sanger Institute
Co-authored papers 18
Amalio Telenti
Vir Biotechnology Inc.
Co-authored papers 18
Mary Carrington
Frederick National Laboratory for Cancer Research, National Cancer Institute
Co-authored papers 17
Kelly Schoch
Duke University School of Medicine
Co-authored papers 17
Curtis Gumbs
The University of Texas MD Anderson Cancer Center
Co-authored papers 17
Gundula Povysil
Institute for Genomic Medicine, Columbia University Medical Center
Co-authored papers 16
Jessica M Maia
Institute for Genomic Medicine, Columbia University
Co-authored papers 16
Nicole Walley
Duke University School of Medicine and Duke Health System
Co-authored papers 15
Mohamad A Mikati
Duke University School of Medicine
Co-authored papers 15
Ali G Gharavi
Columbia University College of Physicians and Surgeons
Co-authored papers 12
Barton F Haynes
Co-authored papers 12
Yong-Hui Jiang
Yale University School of Medicine
Co-authored papers 10
Rodney A Radtke
Duke University Medical Center
Co-authored papers 10
Colin P Doherty
St James's Hospital
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Release 1.2