statistiche ricercatore

Nome	#
Characterization of intellectual disability and autism comorbidity through gene panel sequencing	110
DisProt 7.0: A major update of the database of disordered proteins	110
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge	106
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features	85
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)	77
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype	58
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation	38
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”	33
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits	27
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing	25
PPP2R5D variants in patients with variable neurodevelopmental phenotype	22
TRIO variants in individuals with variable intellectual deficits	17
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS	15
MobiDB: 10 years of intrinsically disordered proteins	1
Totale	724

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2017/2018	3	0	0	0	0	0	0	0	0	0	0	3	0
2018/2019	25	0	0	2	1	0	0	1	0	0	4	9	8
2019/2020	142	6	2	17	7	13	7	24	14	18	11	12	11
2020/2021	185	13	4	12	8	13	11	1	10	16	48	38	11
2021/2022	197	1	20	14	23	28	18	11	12	5	3	8	54
2022/2023	147	31	24	10	24	13	16	0	16	13	0	0	0
Totale													724