Alessandro De Grandi

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Hana Lango Allen, Karol Estrada, Guillaume Lettre et al. · Nature · 2010 · 2K citations · Full text

Genome-wide Association Study, Genetic Analysis, Allelic Variant +13

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Mariona Font, Jesús Purroy et al. · Nature Genetics · 1999 · 329 citations

Genetics, Biochemical Genetics, Molecular Biology +5

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Giuseppe Borsani, Maria Teresa Bassi, Maria Pia Sperandeo et al. · Nature Genetics · 1999 · 263 citations

Putative Permease-related Protein, Lysinuric Protein Intolerance, Allergy +6

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

Alexander Teumer, Yong Li, Sahar Ghasemi et al. · Nature Communications · 2019 · 230 citations · Full text

A New Submicroscopic Deletion That Refines the 9p Region for Sex Reversal

Vladimiro Calvari, Veronica Bertini, Alessandro De Grandi et al. · Genomics · 2000 · 134 citations

New Submicroscopic Deletion, Infertility, Urology +8