Concepedia

Sérgio B. Sousa

SB

Statistics

Publications

30

Citations

2.1K

H-Index

20

Active since

2007

Affiliations

Hospitais da Universidade de Coimbra(Current)

Inserm

University of Coimbra

University College London

Hôpital Necker-Enfants Malades

Sérgio B. Sousa is an author at Hospitais da Universidade de Coimbra specializing in molecular genetics, genetics, and genetic disorders.

ORCID

Publications per year

2007–2023

30

Publications

30

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 323 citations · Full text

, , +5

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

, , +10

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Emmanuelle Szenker‐Ravi, Umut Altunoğlu, Marc Leushacke et al. · Nature · 2018 · 201 citations · Full text

, , +14

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm et al. · PLoS Genetics · 2011 · 168 citations · Full text

, , +16

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo et al. · The American Journal of Human Genetics · 2020 · 125 citations · Full text

, , +14

1–5 of 30