Deborah A. Nickerson
University of Washington
H-index: 127
North America-United States
Top articles of Deborah A. Nickerson
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
SARS-CoV-2 diversity and transmission on a university campus across two academic years during the pandemic | medRxiv | Amanda M Casto Miguel I Paredes Julia Catherine Bennett Kyle G Luiten Jessica A O'Hanlon | 2024 |
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 |
Sentinel Surveillance System Implementation and Evaluation for SARS-CoV-2 Genomic Data, Washington, USA, 2020–2021 | Hanna N Oltean Krisandra J Allen Lauren Frisbie Stephanie M Lunn Laura Marcela Torres | 2023/2 | |
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma | EBioMedicine | Kathryn Recto Priyadarshini Kachroo Tianxiao Huan David Van Den Berg Gha Young Lee | 2023/9/1 |
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome | Annals of Clinical and Translational Neurology | Jonai Pujol‐Giménez Ghayda Mirzaa Elizabeth E Blue Giuseppe Albano Danny E Miller | 2023/6 |
Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting | Genetics in Medicine | Alina I Esterhuizen Nicki Tiffin Gillian Riordan Marie Wessels Richard J Burman | 2023/2/1 |
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy | Genetics in medicine | Vandana Shashi Kelly Schoch Rebecca Ganetzky Peter G Kranz Neal Sondheimer | 2023/9/1 |
The genetic landscape of familial pulmonary fibrosis | American Journal of Respiratory and Critical Care Medicine | Qi Liu Yuan Zhou Joy D Cogan Daphne B Mitchell Quanhu Sheng | 2023/5/15 |
Structural variation across 138,134 samples in the TOPMed consortium | bioRxiv | Goo Jun Adam C English Ginger A Metcalf Jianzhi Yang Mark JP Chaisson | 2023/1/25 |
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease | Brain | Amélie Pinard Wenlei Ye Stuart M Fraser Jill A Rosenfeld Pavel Pichurin | 2023/9 |
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification | Nature Cardiovascular Research | Paul S de Vries Matthew P Conomos Kuldeep Singh Christopher J Nicholson Deepti Jain | 2023/12 |
Bi-allelic variants in INTS11 are associated with a complex neurological disorder | The American Journal of Human Genetics | Burak Tepe Erica L Macke Marcello Niceta Monika Weisz Hubshman Oguz Kanca | 2023/5/4 |
Genetics of Latin American Diversity (GLAD) Project: insights into population genetics and association studies in recently admixed groups in the Americas | bioRxiv | Victor Borda Douglas P Loesch Bing Guo Roland Laboulaye Diego Veliz-Otani | 2023/1/9 |
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling | The American Journal of Human Genetics | Manuela Morleo Rossella Venditti Evangelos Theodorou Lauren C Briere Marion Rosello | 2023/8/3 |
The functional impact of rare variation across the regulatory cascade | Cell Genomics | Taibo Li Nicole Ferraro Benjamin J Strober Francois Aguet Silva Kasela | 2023/10/11 |
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network | Genetics in Medicine | Rebecca C Spillmann Queenie K-G Tan Chloe Reuter Kelly Schoch Undiagnosed Diseases Network | 2023/4/1 |
Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries | Nature genetics | Ceres Fernandez-Rozadilla Maria Timofeeva Zhishan Chen Philip Law Minta Thomas | 2023/1 |
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features | Genetics in Medicine | Jonathan C Andrews Jung-Wan Mok Oguz Kanca Sharayu Jangam Cynthia Tifft | 2023/6/1 |
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