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Sérgio B. Sousa
Sérgio B. Sousa
Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra
Zweryfikowany adres z chuc.min-saude.pt
Tytuł
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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ...
The American Journal of Human Genetics 80 (5), 994-1001, 2007
3752007
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
2842012
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
E Szenker-Ravi, U Altunoglu, M Leushacke, C Bosso-Lefèvre, M Khatoo, ...
Nature 557 (7706), 564-569, 2018
1762018
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
ME Bowen, ED Boyden, IA Holm, B Campos-Xavier, L Bonafé, ...
PLoS genetics 7 (4), e1002050, 2011
1312011
Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases
US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ...
The American Journal of Human Genetics 106 (6), 872-884, 2020
1232020
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome
AC Thomas, H Williams, N Setó-Salvia, C Bacchelli, D Jenkins, ...
The American Journal of Human Genetics 95 (5), 611-621, 2014
1152014
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
SB Sousa, D Jenkins, E Chanudet, G Tasseva, M Ishida, G Anderson, ...
Nature genetics 46 (1), 70-76, 2014
1072014
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice
J Rainger, E van Beusekom, JK Ramsay, L McKie, L Al-Gazali, R Pallotta, ...
PLoS genetics 7 (7), e1002114, 2011
1032011
Phenotype and genotype in Nicolaides–Baraitser syndrome
SB Sousa, RC Hennekam, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
892014
Nicolaides–Baraitser syndrome: delineation of the phenotype
SB Sousa, OA Abdul‐Rahman, A Bottani, V Cormier‐Daire, A Fryer, ...
American Journal of Medical Genetics Part A 149 (8), 1628-1640, 2009
802009
Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome
MM Oud, P Tuijnenburg, M Hempel, N van Vlies, Z Ren, S Ferdinandusse, ...
The American Journal of Human Genetics 100 (2), 281-296, 2017
722017
De novo mutations in SIK1 cause a spectrum of developmental epilepsies
J Hansen, C Snow, E Tuttle, DH Ghoneim, CS Yang, A Spencer, ...
The American Journal of Human Genetics 96 (4), 682-690, 2015
702015
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
D Bryant, Y Liu, S Datta, H Hariri, M Seda, G Anderson, E Peskett, ...
Human molecular genetics 27 (11), 1927-1940, 2018
692018
Autosomal-recessive mutations in MESD cause osteogenesis imperfecta
S Moosa, GL Yamamoto, L Garbes, K Keupp, A Beleza-Meireles, ...
The American Journal of Human Genetics 105 (4), 836-843, 2019
632019
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct …
G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ...
Genetics in Medicine 22 (11), 1838-1850, 2020
492020
Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review
SB Sousa, R Pina, L Ramos, N Pereira, M Krahn, W Borozdin, J Kohlhase, ...
American Journal of Medical Genetics Part A 146 (21), 2799-2803, 2008
472008
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
VG Peter, M Quinodoz, J Pinto-Basto, SB Sousa, SA Di Gioia, G Soares, ...
Genetics in medicine 21 (12), 2734-2743, 2019
462019
Heterozygous aggrecan variants are associated with short stature and brachydactyly: description of 16 probands and a review of the literature
L Sentchordi‐Montané, M Aza‐Carmona, S Benito‐Sanz, ...
Clinical endocrinology 88 (6), 820-829, 2018
442018
The first European consensus on principles of management for achondroplasia
V Cormier-Daire, M AlSayed, T Ben-Omran, SB de Sousa, S Boero, ...
Orphanet journal of rare diseases 16, 1-7, 2021
412021
A recessive ataxia diagnosis algorithm for the next generation sequencing era
M Renaud, C Tranchant, JVT Martin, F Mochel, M Synofzik, ...
Annals of neurology 82 (6), 892-899, 2017
362017
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