statistiche ricercatore

Nome	#
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy	42
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant	33
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss	32
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases	23
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data	21
Solving unsolved rare neurological diseases—a Solve-RD viewpoint	21
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies	18
The Autophagy-Cilia Axis: An Intricate Relationship	16
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing	12
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis	3
Totale	221

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	14	0	0	0	0	0	0	0	0	13	0	0	1
2020/2021	4	1	0	0	1	2	0	0	0	0	0	0	0
2021/2022	32	0	0	0	0	0	0	1	4	0	1	12	14
2022/2023	45	7	2	0	0	3	5	0	10	7	6	5	0
2023/2024	78	0	7	7	5	4	9	1	3	0	1	37	4
2024/2025	47	10	15	0	6	16	0	0	0	0	0	0	0
Totale													221