Janet Sinsheimer
University of California, Los Angeles
H-index: 64
North America-United States
Top articles of Janet Sinsheimer
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
De novo variants in DENND5B cause a neurodevelopmental disorder | The American Journal of Human Genetics | Marcello Scala Valeria Tomati Matteo Ferla Mariateresa Lena Julie S Cohen | 2024/2/16 |
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 |
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 |
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis | Genetics in Medicine | Jenna Pucel Lauren C Briere Chloe Reuter Perman Gochyyev Maria T Acosta | 2024/6/1 |
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 |
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 |
Increased body mass index is linked to systemic inflammation through altered chromatin co-accessibility in human preadipocytes | Nature Communications | Kristina M Garske Asha Kar Caroline Comenho Brunilda Balliu David Z Pan | 2023/7/14 |
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care | The Journal of Pediatrics | Meghan C Halley Jennifer L Young Charis Tang Kevin T Mintz Sawyer Lucas-Griffin | 2023/10/1 |
Multivariate genome-wide association analysis by iterative hard thresholding | Bioinformatics | Benjamin B Chu Seyoon Ko Jin J Zhou Aubrey Jensen Hua Zhou | 2023/4 |
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 |
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 |
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 |
Among men, androgens are associated with a decrease in Alzheimer's disease risk | Alzheimer's & Dementia | Cynthia DJ Kusters Kimberly C Paul Tahmineh Romero Janet S Sinsheimer Beate R Ritz | 2023/9 |
Cross-tissue omics analysis discovers ten adipose genes encoding secreted proteins in obesity-related non-alcoholic fatty liver disease | EBioMedicine | Nicholas Darci-Maher Marcus Alvarez Uma Thanigai Arasu Ilakya Selvarajan Seung Hyuk T Lee | 2023/6/1 |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | The American Journal of Human Genetics | Eva Niggl Arjan Bouman Lauren C Briere Remco M Hoogenboezem Ilse Wallaard | 2023/8/3 |
Untargeted serum metabolomics reveals novel metabolite associations and disruptions in amino acid and lipid metabolism in Parkinson’s disease | Molecular Neurodegeneration | Kimberly C Paul Keren Zhang Douglas I Walker Janet Sinsheimer Yu Yu | 2023/12/19 |
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 |
Patterns of reproduction and autozygosity distinguish the breeding from nonbreeding gray wolves of Yellowstone National Park | Journal of Heredity | Bridgett M vonHoldt Alexandra L DeCandia Kira A Cassidy Erin E Stahler Janet S Sinsheimer | 2023/10/4 |
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 |
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | Brain | Marcello Scala Masashi Nishikawa Hidenori Ito Hidenori Tabata Tayyaba Khan | 2022/9/1 |
