M Sencicek
Utica College
H-index: 64
North America-United States
Top articles of M Sencicek
Title | Journal | Author(s) | Publication Date |
---|---|---|---|
Centers for Mendelian Genomics: A decade of facilitating gene discovery | Samantha M Baxter Jennifer E Posey Nicole J Lake Nara Sobreira Jessica X Chong | 2022/4/1 | |
GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy | medRxiv | Krzysztof Kiryluk Elena Sanchez-Rodriguez Xu-jie Zhou Francesca Zanoni Lili Liu | 2021/11/20 |
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 | Science immunology | Takaki Asano Bertrand Boisson Fanny Onodi Daniela Matuozzo Marcela Moncada-Velez | 2021/8/19 |
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths | Science immunology | Paul Bastard Adrian Gervais Tom Le Voyer Jérémie Rosain Quentin Philippot | 2021/8/19 |
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis | The American Journal of Human Genetics | Patricia L Weng Amar J Majmundar Kamal Khan Tze Y Lim Shirlee Shril | 2021/2/4 |
Autoantibodies against type I IFNs in patients with life-threatening COVID-19 | Science | Paul Bastard Lindsey B Rosen Qian Zhang Eleftherios Michailidis Hans-Heinrich Hoffmann | 2020/10/23 |
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Science | Qian Zhang Paul Bastard Zhiyong Liu Jérémie Le Pen Marcela Moncada-Velez | 2020/10/23 |
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis | Kidney international | Tilman Jobst-Schwan Verena Klämbt Maureen Tarsio John F Heneghan Amar J Majmundar | 2020/3/1 |
Beliefs in vaccine as causes of autism among SPARK cohort caregivers | Vaccine | Eric Fombonne Robin P Goin-Kochel Brian J O'Roak Leonard Abbeduto Gabriella Aberbach | 2020/2/11 |