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Cristina Dias

Wellcome Trust Sanger Institute

26

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550

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2021 medRxiv
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

2020 Genetics in Medicine
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Loss And Gain Of Function Experiments Implicate TMEM18 As A Mediator Of The Strong Association Between Genetic Variants At Human Chromosome 2p25.3 And Obesity

2017 bioRxiv
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Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation

2017 Proceedings of the National Academy of Sciences of the United States of America
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Revealing the inner workings of organoids

2017 The EMBO Journal
- Cristina Dias
- François Guillemot
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On the presence of exotic materials in some funerary megalithic monuments of alentejo: The cases of cinnabar and amber

2015
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Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

2014 Orphanet Journal of Rare Diseases
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Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

2013 Human Genetics
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Interstitial dup(6)(q22.3q24) characterized by cCGH resulting from familial inv ins(6)(p11.2q25.3q22.3): case report

2013
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Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation

2011
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