David B. Goldstein
Columbia University in the City of New York
H-index: 138
North America-United States
Description
David B. Goldstein, With an exceptional h-index of 138 and a recent h-index of 81 (since 2020), a distinguished researcher at Columbia University in the City of New York, specializes in the field of human genetics.
His recent articles reflect a diverse array of research interests and contributions to the field:
The role of copy number variants in the genetic architecture of common familial epilepsies
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Myosin mutations and sudden sensorineural hearing loss: results of whole exome sequencing
Africa-specific human genetic variation near CHD1L associates with HIV-1 load
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
Professor Information
University | Columbia University in the City of New York |
---|---|
Position | ___ |
Citations(all) | 92005 |
Citations(since 2020) | 27660 |
Cited By | 74742 |
hIndex(all) | 138 |
hIndex(since 2020) | 81 |
i10Index(all) | 432 |
i10Index(since 2020) | 314 |
University Profile Page | Columbia University in the City of New York |
Research & Interests List
human genetics
Top articles of David B. Goldstein
The role of copy number variants in the genetic architecture of common familial epilepsies
Objective Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. Whereas many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies. Methods We analyzed exome sequence data from 267 multiplex families and 859 first‐degree relative pairs with a diagnosis of genetic generalized epilepsies or nonacquired focal epilepsies to predict CNVs. Validation and segregation studies were performed using an orthogonal method when possible. Results We identified CNVs likely to contribute to epilepsy risk or etiology in the probands of 43 of 1116 (3.9%) families, including known recurrent CNVs (16p13.11 deletion, 15q13.3 deletion, 15q11.2 deletion, 16p11.2 duplication, 1q21.1 duplication, and 5‐Mb duplication of 15q11q13). We also identified CNVs affecting monogenic …
Authors
Epi4K Consortium,Edith P Almanza Fuerte,John Nguyen,Michelle Mehaffey,Arvis Sulovari,Tianyun Wang,Miranda Galey,Danny E Miller,Evan E Eichler,Heather C Mefford,Bassel Abou‐Khalil,Zaid Afawi Afawi,Andrew S Allen,Dina Amrom,Eva Andermann,Jocelyn F Bautista,Susannah T Bellows,Samuel F Berkovic,Judith Bluvstein,Alexis Boro,Rosemary Burgess,Gregory D Cascino,Seo‐Kyung Chung,Damian Consalvo,Patrick Cossette,Douglas E Crompton,Patricia Crumrine,Sarah W Curtis,Norman Delanty,Orrin Devinsky,Dennis Dlugos,Colin A Ellis,Michael P Epstein,Miguel Fiol,Nathan B Fountain,Catharine Freyer,Dan Friedman,Eric B Geller,Tracy Glauser,Simon Glynn,David B Goldstein,Micheline Gravel,Kevin Haas,Rebekah V Harris,Sheryl Haut,Erin L Heinzen,Sandra Helmers,Olivia J Henry,Sucheta Joshi,Heidi E Kirsch,Sara Kivity,Robert C Knowlton,Eric Kossoff,Ruben Kuzniecky,Rebecca Loeb,Daniel H Lowenstein,Anthony G Marson,Mark McCormack,Shannon M McGuire,Kevin McKenna,Paul V Motika,Saul A Mullen,Edward J Novotny,Terence J O’Brien,Karen L Oliver,Ruth Ottman,Juliann M Paolicchi,Jack M Parent,Kristen L Park,Sarah J Paterson,Slave Petrovski,William O Pickrell,Annapurna Poduri,Mark I Rees,Lynette G Sadleir,Ingrid E Scheffer,Renee A Shellhaas,Elliott H Sherr,Jerry J Shih,Shlomo Shinnar,Rani K Singh,Joseph Sirven,Michael C Smith,Philip EM Smith,Michael R Sperling,Joseph Sullivan,Liu Lin Thio,Rhys H Thomas,Anu Venkat,Eileen PG Vining,Gretchen K Von Allmen,Judith Weisenberg,Peter Widdess‐Walsh,Melodie R Winawer
Journal
Epilepsia
Published Date
2024/3
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
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 one of three pathways that facilitates the translocation of nascent proteins into the ER. The in vivo function of this protein is ill characterized in multicellular organisms. Here, we generated a CRISPR-induced null allele of the fruit fly ortholog CG8320/Tmem208 by replacing the gene with the Kozak-GAL4 sequence. We show that Tmem208 is broadly expressed in flies and that its loss causes lethality, although a few short-lived flies eclose. These animals exhibit wing and eye developmental defects consistent with impaired cell polarity and display mild ER stress. Tmem208 physically interacts with Frizzled (Fz), a planar cell polarity (PCP) receptor, and is required to maintain proper …
Authors
Debdeep Dutta,Oguz Kanca,Rishi V Shridharan,Paul C Marcogliese,Benjamin Steger,Marie Morimoto,F Graeme Frost,Ellen Macnamara,Undiagnosed Diseases Network,Michael F Wangler,Shinya Yamamoto,Andreas Jenny,David Adams,May C Malicdan,Hugo J Bellen
Journal
Proceedings of the National Academy of Sciences
Published Date
2024/2/27
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
PurposeWe sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor–like domains 1 (CRELD1) gene variants.MethodsThe impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.ResultsBiallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Most harbored a frameshift in trans with a missense allele, with 1 recurrent variant, p.(Cys192Tyr), identified in 10 families. X tropicalis tadpoles with creld1 knockdown displayed developmental defects along …
Authors
Lauren Jeffries,Emily K Mis,Kirsty McWalter,Sandra Donkervoort,Nina N Brodsky,Jean-Marie Carpier,Weizhen Ji,Cristian Ionita,Bhaskar Roy,Jon S Morrow,Armine Darbinyan,Krishna Iyer,Ritu B Aul,Siddharth Banka,Katherine R Chao,Laura Cobbold,Stacey Cohen,Helena M Custodio,Margaret Drummond-Borg,Frances Elmslie,Erika Finanger,Bryan E Hainline,Ingo Helbig,Stacy Hewson,Ying Hu,Adam Jackson,Dragana Josifova,Monica Konstantino,Meganne E Leach,Bryan Mak,David McCormick,Elisabeth McGee,Stanley Nelson,Joanne Nguyen,Kimberly Nugent,Lucy Ortega,Howard P Goodkin,Elizabeth Roeder,Sani Roy,Katie Sapp,Dimah Saade,Sanjay M Sisodiya,Karen Stals,Shelley Towner,William Wilson,Silvia Borras,Caroline Clark,John Dean,Zosia Miedzybrodzka,Alison Ross,Stephen Tennant,Tabib Dabir,Deirdre Donnelly,Mervyn Humphreys,Alex Magee,Vivienne McConnell,Shane McKee,Susan McNerlan,Patrick J Morrison,Gillian Rea,Fiona Stewart,Trevor Cole,Nicola Cooper,Lisa Cooper-Charles,Helen Cox,Lily Islam,Joanna Jarvis,Rebecca Keelagher,Derek Lim,Dominic McMullan,Jenny Morton,Swati Naik,Mary O’Driscoll,Kai-Ren Ong,Deborah Osio,Nicola Ragge,Sarah Turton,Julie Vogt,Denise Williams,Simon Bodek,Alan Donaldson,Alison Hills,Karen Low,Ruth Newbury-Ecob,Andrew M Norman,Eileen Roberts,Ingrid Scurr,Sarah Smithson,Madeleine Tooley,Steve Abbs,Ruth Armstrong,Carolyn Dunn,Simon Holden,Soo-Mi Park,Joan Paterson,Lucy Raymond,Evan Reid,Richard Sandford,Ingrid Simonic,Marc Tischkowitz,Geoff Woods,Lisa Bradley,Joanne Comerford,Andrew Green,Sally Lynch,Shirley McQuaid,Brendan Mullaney,Jonathan Berg,David Goudie,Eleni Mavrak,Joanne McLean,Catherine McWilliam,Eleanor Reavey,Tara Azam,Elaine Cleary,Andrew Jackson,Wayne Lam,Anne Lampe,David Moore,Mary Porteous,Emma Baple,Júlia Baptista,Carole Brewer,Bruce Castle,Emma Kivuva,Martina Owens,Julia Rankin,Charles Shaw-Smith,Claire Turner,Peter Turnpenny,Carolyn Tysoe,Therese Bradley,Rosemarie Davidson,Carol Gardiner,Shelagh Joss,Esther Kinning,Cheryl Longman,Ruth McGowan,Victoria Murday,Daniela Pilz,Edward Tobias,Margo Whiteford,Nicola Williams,Angela Barnicoat,Emma Clement,Francesca Faravelli,Jane Hurst,Lucy Jenkins,Wendy Jones,VK Ajith Kumar
Journal
Genetics in medicine
Published Date
2024/2/1
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease
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 have been associated with an increased risk of developing NAFLD, nonalcoholic steatohepatitis (NASH), and fibrosis in adults. The role of rare genetic variants in the development and progression of NAFLD in children is not well known. We aimed to explore the role of rare genetic variants in pediatric patients with advanced fibrosis. Methods Whole exome sequencing data was generated for 229 pediatric patients diagnosed with NAFLD recruited from the NASH Clinical Research Network (NASH CRN). Case-control single variant and gene-based collapsing analyses were used to test for rare variants that were enriched or depleted within the pediatric NAFLD cohort specifically for advanced fibrosis (cases) versus those without fibrosis (controls) or six other histologic characteristics. Exome data from non-NAFLD population controls were also used for additional analyses. All results were adjusted for multiple testing using a Bonferroni correction. Results No genome-wide significant associations were found between rare variation and presence of advanced fibrosis or NASH, nor the severity of steatosis, inflammation, or hepatocellular ballooning. Significantly, no enrichment of rare variants in PNPLA3 or TM6SF2 was observed across phenotypes. Conclusion In a cohort of children with histologically proven NAFLD, no genome-wide significant associations were found between rare genetic variation …
Authors
Julia Wattacheril,Sarah E Kleinstein,Patrick R Shea,Laura A Wilson,G Mani Subramanian,Robert P Myers,Jay Lefkowitch,Cynthia Behling,Stavra A Xanthakos,David B Goldstein,NASH Clinical Research Network
Journal
medRxiv
Published Date
2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
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 misalignment. Aided by gene matching platforms, we identified 24 individuals with neurodevelopmental delays from 18 families with bi-allelic variants in SPOUT1/CENP-32 detected by exome/genome sequencing. Zebrafish spout1/cenp-32 mutants showed reduction in larval head size with concomitant apoptosis likely associated with altered cell cycle progression. In vivo complementation assays in zebrafish indicated that SPOUT1/CENP-32 missense variants identified in humans are pathogenic. Crystal structure analysis of SPOUT1/CENP-32 revealed that most disease-associated missense variants mapped to the catalytic domain. Additionally, SPOUT1/CENP-32 recurrent missense variants had reduced methyltransferase activity in vitro and compromised centrosome tethering to the spindle poles in human cells. Thus, SPOUT1/CENP-32 pathogenic variants cause an autosomal recessive neurodevelopmental disorder: SpADMiSS (SPOUT1 Associated Development delay Microcephaly Seizures Short stature) underpinned by mitotic spindle organization defects and consequent chromosome segregation errors.
Authors
Avinash V Dharmadhikari,Maria Alba Abad,Sheraz Khan,Reza Maroofian,Tristan T Sands,Farid Ullah,Itaru Samejima,Martin A Wear,Kiara E Moore,Elena Kondakova,Natalia Mitina,Theres Schaub,Grace K Lee,Christine H Umandap,Sara M Berger,Alejandro D Iglesias,Bernt Popp,Rami Abou Jamra,Heinz Gabriel,Stefan Rentas,Alyssa L Rippert,Kosuke Izumi,Laura K Conlin,Daniel C Koboldt,Theresa Mihalic Mosher,Scott E Hickey,Dara VF Albert,Haley Norwood,Amy Feldman Lewanda,Hongzheng Dai,Pengfei Liu,Tadahiro Mitani,Dana Marafi,Davut Pehlivan,Jennifer E Posey,Natalie Lippa,Natalie Vena,Erin L Heinzen,David B Goldstein,Cyril Mignot,Jean-Madeleine de Sainte Agathe,Nouriya Abbas Al-Sannaa,Mina Zamani,Saeid Sadeghian,Tahere Seifia,Maha S Zaki,Ghada MH Abdel-Salam,Mohamed Abdel-Hamid,Lama Alabdi,Fowzan Sami Alkuraya,Heba Dawoud,Aya Lofty,Peter Bauer,Giovanni Zifarelli,Erum Afzal,Faisal Zafar,Stephanie Efthymiou,Daniel Gossett,Meghan C Towne,Raey Yeneabat,Sandeep N Wontakal,Vimla S Aggarwal,Jill A Rosenfeld,Victor Tarabykin,Shinya Ohta,James R Lupski,Henry Houlden,William C Earnshaw,Erica E Davis,A Arockia Jeyaprakash,Jun Liao
Journal
medRxiv
Published Date
2024
Myosin mutations and sudden sensorineural hearing loss: results of whole exome sequencing
ObjectiveIdiopathic sudden sensorineural hearing loss (ISSNHL) affects 66,000 patients per year in the United States. Genetic mutations have been associated with progressive hearing loss; however, genetic mutations associated with ISSNHL have not been identified.MethodsA prospective cohort study of adults older than 18 years presenting with ISSNHL at a tertiary academic medical center. Whole exome sequencing (WES) was conducted using Genome Analysis Toolkit best practices. An automated diagnostic screen employing a variety of models for pathogenicity was conducted across all genes with no specific targets. Candidate pathogenic variants were reviewed by a team of geneticists and clinicians. Variants were crossed-referenced with 92 known hearing loss associated genes.ResultsTwenty-nine patients with SSNHL were screened using WES. The average age of patients was 53±17.1 years, and …
Authors
Rahul K Sharma,Madeleine Drusin,Joseph Hostyk,Evan H Baugh,Vimla S Aggarwal,David Goldstein,Ana H Kim
Journal
Otology & Neurotology
Published Date
2023/1/1
Africa-specific human genetic variation near CHD1L associates with HIV-1 load
HIV-1 remains a global health crisis, highlighting the need to identify new targets for therapies. Here, given the disproportionate HIV-1 burden and marked human genome diversity in Africa, we assessed the genetic determinants of control of set-point viral load in 3,879 people of African ancestries living with HIV-1 participating in the international collaboration for the genomics of HIV. We identify a previously undescribed association signal on chromosome 1 where the peak variant associates with an approximately 0.3 log10-transformed copies per ml lower set-point viral load per minor allele copy and is specific to populations of African descent. The top associated variant is intergenic and lies between a long intergenic non-coding RNA (LINC00624) and the coding gene CHD1L, which encodes a helicase that is involved in DNA repair. Infection assays in iPS cell-derived macrophages and other immortalized cell …
Authors
Paul J McLaren,Immacolata Porreca,Gennaro Iaconis,Hoi Ping Mok,Subhankar Mukhopadhyay,Emre Karakoc,Sara Cristinelli,Cristina Pomilla,István Bartha,Christian W Thorball,Riley H Tough,Paolo Angelino,Cher S Kiar,Tommy Carstensen,Segun Fatumo,Tarryn Porter,Isobel Jarvis,William C Skarnes,Andrew Bassett,Marianne K DeGorter,Mohana Prasad Sathya Moorthy,Jeffrey F Tuff,Eun-Young Kim,Miriam Walter,Lacy M Simons,Arman Bashirova,Susan Buchbinder,Mary Carrington,Andrea Cossarizza,Andrea De Luca,James J Goedert,David B Goldstein,David W Haas,Joshua T Herbeck,Eric O Johnson,Pontiano Kaleebu,William Kilembe,Gregory D Kirk,Neeltje A Kootstra,Alex H Kral,Olivier Lambotte,Ma Luo,Simon Mallal,Javier Martinez-Picado,Laurence Meyer,José M Miro,Pravi Moodley,Ayesha A Motala,James I Mullins,Kireem Nam,Niels Obel,Fraser Pirie,Francis A Plummer,Guido Poli,Matthew A Price,Andri Rauch,Ioannis Theodorou,Alexandra Trkola,Bruce D Walker,Cheryl A Winkler,Jean-François Zagury,Stephen B Montgomery,Angela Ciuffi,Judd F Hultquist,Steven M Wolinsky,Gordon Dougan,Andrew ML Lever,Deepti Gurdasani,Harriet Groom,Manjinder S Sandhu,Jacques Fellay
Journal
Nature
Published Date
2023/8/31
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
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 associated with liver phenotypes and analyzed ES data for these genes in 758 patients with chronic liver diseases (CLD). For comparison, we examined ES data in 7856 self-declared healthy controls (HC), and 2187 patients with chronic kidney disease (CKD). Candidate pathogenic (P) or likely pathogenic (LP) variants were initially identified in 19.9% of participants, most of which were attributable to previously reported pathogenic variants with implausibly high allele frequencies. After variant annotation and filtering based on population minor allele frequency (MAF ≤ 10–4 for dominant disorders and MAF ≤ 10–3 for recessive disorders), we detected a significant enrichment of …
Authors
Xiao-Fei Kong,Kelsie Bogyo,Sheena Kapoor,Patrick R Shea,Emily E Groopman,Amanda Thomas-Wilson,Enrico Cocchi,Hila Milo Rasouly,Beishi Zheng,Siming Sun,Junying Zhang,Mercedes Martinez,Jennifer M Vittorio,Lorna M Dove,Maddalena Marasa,Timothy C Wang,Elizabeth C Verna,Howard J Worman,Ali G Gharavi,David B Goldstein,Julia Wattacheril
Journal
Scientific reports
Published Date
2023/12/6
Professor FAQs
What is David B. Goldstein's h-index at Columbia University in the City of New York?
The h-index of David B. Goldstein has been 81 since 2020 and 138 in total.
What are David B. Goldstein's top articles?
The articles with the titles of
The role of copy number variants in the genetic architecture of common familial epilepsies
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Myosin mutations and sudden sensorineural hearing loss: results of whole exome sequencing
Africa-specific human genetic variation near CHD1L associates with HIV-1 load
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
...
are the top articles of David B. Goldstein at Columbia University in the City of New York.
What are David B. Goldstein's research interests?
The research interests of David B. Goldstein are: human genetics
What is David B. Goldstein's total number of citations?
David B. Goldstein has 92,005 citations in total.
What are the co-authors of David B. Goldstein?
The co-authors of David B. Goldstein are Marcus W. Feldman, Ali G. Gharavi, Wayne N. Frankel, Erin Heinzen, Anna Need, Nicholas P Tatonetti.