Concepedia

Tiziano Pramparo

TP

49

Publications

5.9K

Citations

34

H-Index

2001

Active since

Affiliations

University of Pavia(Current)

University of California San Diego

Policlinico San Matteo Fondazione

Istituti di Ricovero e Cura a Carattere Scientifico

University of Cambridge

Tiziano Pramparo is an author at University of Pavia specializing in medicine, genetics, and developmental biology.

Top concepts

MedicineGeneticsDevelopmental BiologyNeurogeneticsNeuroscienceCell BiologyAutismPathologySocial SciencesMolecular Genetics

Publications per year

2001–2024

49

Publications

49

Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice

Elizabeth A. Lindsay, Francesca Vitelli, Hong Hua Su et al. · Nature · 2001 · 1K citations

Vascular Disease, Developmental Biology, Aortic Arch Defects +8

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

Maria C. Marchetto, Haim Belinson, Yuan Tian et al. · Molecular Psychiatry · 2016 · 482 citations · Full text

Neural Cells, Developmental Biology, Syndromic Autism +7

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Xueya Zhou, Pamela Feliciano, Chang Shu et al. · Nature Genetics · 2022 · 423 citations · Full text

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 354 citations · Full text

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