michael bamshad
University of Washington
H-index: 99
North America-United States
Top articles of michael bamshad
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 |
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 |
Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications | medRxiv | Sara Mansoorshahi Anji T Yetman Malenka M Bissell Yuli Y Kim Hector I Michelena | 2024 |
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric | The American Journal of Human Genetics | Quan Sun Yingxi Yang Jonathan D Rosen Jiawen Chen Xihao Li | 2024/4/9 |
CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease | medRxiv | Takayasu Mori Takuya Fujimaru Chunyu Liu Karynne Patterson Kouhei Yamamoto | 2024 |
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing | bioRxiv | Jessica X Chong Seth I Berger Samantha Baxter Erica Smith Changrui Xiao | 2024/2/9 |
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications | The American Journal of Human Genetics | W Gregory Feero Robert D Steiner Anne Slavotinek Tiago Faial Michael J Bamshad | 2024/4/4 |
3-hour genome sequencing and targeted analysis to rapidly assess genetic risk | Genetics in Medicine Open | Miranda Galey Jonas Gustafson Stephanie Bohaczuk Ben Mallory Paxton Reed | 2024/2/24 |
MYH3 mutations associated with distal arthrogryposis alter the contractility and myosin isoform switching of hiPSC-derived skeletal muscle | Biophysical Journal | Christian Mandrycky Saffie Mohran Matthew C Childers Shawn M Luttrell Elizabeth Choi | 2024/2/8 |
P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences | Genetics in Medicine Open | Katrina Dipple Daniel Doherty Kailyn Anderson Olivia Sommers Tara Wenger | 2024/1/1 |
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi–Goutières syndrome | American Journal of Medical Genetics Part A | Aamuktha R Karla Amélie Pinard Maura L Boerio Dimitri Hemelsoet Simon J Tavernier | 2024/4 |
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 |
P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates | Genetics in Medicine Open | Tara Wenger Alexandra Keefe Lukas Kruidenier Megan Sikes Abbey Scott | 2024/1/1 |
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis | Hepatology | Jaclyn R Stonebraker Rhonda G Pace Paul J Gallins Hong Dang Melis A Aksit | 2024/3/27 |
Lisch epithelial corneal dystrophy is caused by heterozygous loss-of-function variants in MCOLN1 | American journal of ophthalmology | Karynne Patterson Jessica X Chong Doug D Chung Walter Lisch Carol L Karp | 2024/2/1 |
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 |
P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter | Genetics in Medicine Open | Elliott Swanson Helmut Grasberger Alexandra Dumitrescu Xiao-Hui Liao Roy Weiss | 2024/1/1 |
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 |
P099: Mosaic variant in RHOA in an adolescent with a multisystem disorder composed of congenital and progressive anomalies | Genetics in Medicine Open | Aimee Allworth Ian Glass Anne Hing Elizabeth Blue Elisabeth Rosenthal | 2023/1/1 |
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 |
