statistiche ricercatore

Nome	#
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study	138
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins	50
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females	29
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes	25
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	21
An interconnected data infrastructure to support large-scale rare disease research	16
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling	4
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome	1
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	1
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies	1
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes	1
Correction to: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes (European Journal of Human Genetics, (2024), 32, 8, (998-1004), 10.1038/s41431-024-01637-4)	1
Totale	288

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2020/2021	15	0	0	0	1	0	7	0	1	1	2	0	3
2021/2022	17	3	0	0	1	0	2	0	2	1	1	3	4
2022/2023	36	2	2	0	3	5	4	0	1	10	0	9	0
2023/2024	23	0	8	0	5	3	2	2	0	0	1	1	1
2024/2025	45	2	3	0	7	3	7	2	5	2	1	4	9
2025/2026	94	12	11	38	33	0	0	0	0	0	0	0	0
Totale													288