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Guillermo Lay-Son

4PUBLICATIONS

18CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)

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Publications (4)

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|Jan 04, 2024

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

M Cecilia Poli, Boris Rebolledo-Jaramillo, Catalina Lagos

|Apr 17, 2020

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.

Yves Lacassie, Britt Johnson, Guillermo Lay-Son

|Aug 11, 2019

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday

|May 13, 2017

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

Luis E León, Felipe Benavides, Karena Espinoza

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Frequent Collaborators

1 joint publications

Deepika D'Cunha Burkardt

1 joint publications

Laurence Faivre

1 joint publications

Karen Low

1 joint publications

Ho-Ming Luk

1 joint publications

John Pappas

1 joint publications

Helen Stewart

1 joint publications

Rosanna Weksberg

1 joint publications

Yuri A Zarate

1 joint publications

Katrina Tatton-Brown

1 joint publications

Yves Lacassie

Frequent Collaborators

1 joint publications

Deepika D'Cunha Burkardt

1 joint publications

Laurence Faivre

1 joint publications

Karen Low

1 joint publications

Ho-Ming Luk

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