Sara Busquets Estruch
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Sara Busquets Estruch Email & Phone Number

Geneticist | Genetic Diagnosis at Blueprint Genetics
Location: Badalona, Catalonia, Spain 6 work roles 3 schools
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Current company
Blueprint Genetics
Role
Geneticist | Genetic Diagnosis
Location
Badalona, Catalonia, Spain
Company size
171 employees

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Sara Busquets Estruch is listed as Geneticist | Genetic Diagnosis at Blueprint Genetics, a with 171 employees, based in Badalona, Catalonia, Spain. AeroLeads shows a matched LinkedIn profile for Sara Busquets Estruch.

Sara Busquets Estruch previously worked as NGS analyst | Genetic Diagnosis at Sistemas Genómicos and NGS clinical data analyst | Genetic diagnosis and reproductive genetics at Qgenomics. Sara Busquets Estruch holds Doctor Of Philosophy - Phd, Molecular Genetics from Radboud University Nijmegen.

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Blueprint Genetics

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About Sara Busquets Estruch

Currently working as a geneticist at Blueprint Genetics: WES analysis, interpretation, classification and reporting of genetic data in the context of diagnosing clinical genetic diseases. I previously worked as a geneticist in other genetic diagnosis companies.During my PhD, I worked in the field of Molecular Genetics at the Max Planck Institute in Nijmegen. I performed functional characterization studies to support variant interpretation and characterized the interactomes of neurodevelopmental-related proteins.

Listed skills include Sumoylation, Bioluminscence Energy Resonance Transfer, Functional Molecular Characterization Of Protein Mutations, Affinity Purification Of Transcription Factor Complexes, and 33 others.

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Sara Busquets Estruch's current company

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Blueprint Genetics
Blueprint Genetics
Geneticist | Genetic Diagnosis
helsinki, uusimaa, finland
Website
blueprintgenetics.com
Employees
171
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6 roles

Sara Busquets Estruch work experience

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Ngs Clinical Data Analyst | Genetic Diagnosis And Reproductive Genetics

Qgenomics

Barcelona Area, Spain

• NGS data analysis, and interpretation and curation of genetic variants in the context of WES, clinical panels and carrier screening tests• Expertise in ACMG classification guidelines• Expertise in genetic databases such as UCSC, Varsome, Franklin, HGMD, Orphanet, ClinVar, ClinGen, gnomAD and decipher

Jul 2018 - Dec 2021

Phd Candidate Researcher | Molecular Neurogenetics

Max Planck Institute For Psycholinguistics

Nijmegen

PhD in Molecular Neurogenetics. Awarded the Otto Hahn Medal to the best doctoral dissertations of 2018 (Max Planck Society)My research aimed at investigating the molecular and genetic basis of neurodevelopmental disorders of speech and language. I focused in transcription factors implicated in neurodevelopmental disorders and I (1) performed functional characterization studies of genetic variants in these transcription factors and (2) studied and characterized their protein interactomes. Specifically, I worked with the FOXP family of transcription factors and BCL11A. Main duties:• Planning and implementation of scientific strategies• Analysis scientific data• Writing of scientific publications• Reporting project progress to specialists at international conferences and to a non-expert audience. • Carry out proteomic studies to characterise the interactome of the FOXP family of transcription factors• Carry out molecular functional characterisation studies of mutations implicated in neurodevelopmental disorders

Sep 2012 - Dec 2017

Master Student

University Of Barcelona

The aim of my master thesis was to perform screenings for protein interactions of the brain-specific nuclear receptor TLX (NR2E3) using a yeast-two hybrid screening system. I validated several interactions found in the screen such as ATN1 or BCL11A. Finally, I characterised TLX interaction with BCL11A, a blood and brain specific transcription factor and co-repressor and discovered the specific domains that mediated the interaction and also that BCL11A acted as a co-repressor of TLX.

Jul 2011 - Jun 2012

Undergraduate Student

University Of Barcelona

In this internship, I set up a yeast two-hybrid assay to screen for protein interactions of nuclear receptors such as AR (androgen receptor) and TLX (NR2E3).

Jul 2010 - Jun 2011
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Colleagues at Blueprint Genetics

Other employees you can reach at blueprintgenetics.com. View company contacts for 171 employees →

SJ Sousan Jafari Sousan Jafari Colleague at Blueprint GeneticsVantaa, Uusimaa, Finland View → SK Saara Kokkonen Saara Kokkonen Colleague at Blueprint GeneticsHelsinki, Uusimaa, Finland View → JA Joe Adams Joe Adams Colleague at Blueprint GeneticsJonesboro-Paragould Area, United States View → AC Alice Costantini, Phd Alice Costantini, Phd Colleague at Blueprint GeneticsStockholm, Stockholm County, Sweden View → KK Kaijamari Karttunen Kaijamari Karttunen Colleague at Blueprint GeneticsHelsinki, Uusimaa, Finland View → SS Satu Saarenpää Satu Saarenpää Colleague at Blueprint GeneticsHelsinki, Uusimaa, Finland View → LJ Laura Järvinen Laura Järvinen Colleague at Blueprint GeneticsHelsinki, Uusimaa, Finland View → IS Inka Saarinen Inka Saarinen Colleague at Blueprint GeneticsHelsinki, Uusimaa, Finland View → BH Bibi Hannikainen Bibi Hannikainen Colleague at Blueprint GeneticsHelsinki Metropolitan Area, Finland View → JM Jade Mukri Ms Cgc Ches Jade Mukri Ms Cgc Ches Colleague at Blueprint GeneticsJacksonville, Florida, United States View →
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Sara Busquets Estruch education

FAQ

Frequently asked questions about Sara Busquets Estruch

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What company does Sara Busquets Estruch work for?

Sara Busquets Estruch works for Blueprint Genetics.

What is Sara Busquets Estruch's role at Blueprint Genetics?

Sara Busquets Estruch is listed as Geneticist | Genetic Diagnosis at Blueprint Genetics.

Where is Sara Busquets Estruch based?

Sara Busquets Estruch is based in Badalona, Catalonia, Spain while working with Blueprint Genetics.

What companies has Sara Busquets Estruch worked for?

Sara Busquets Estruch has worked for Blueprint Genetics, Sistemas Genómicos, Qgenomics, Max Planck Institute For Psycholinguistics, and University Of Barcelona.

Who are Sara Busquets Estruch's colleagues at Blueprint Genetics?

Sara Busquets Estruch's colleagues at Blueprint Genetics include Sousan Jafari, Saara Kokkonen, Joe Adams, Alice Costantini, Phd, and Kaijamari Karttunen.

How can I contact Sara Busquets Estruch?

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What schools did Sara Busquets Estruch attend?

Sara Busquets Estruch holds Doctor Of Philosophy - Phd, Molecular Genetics from Radboud University Nijmegen.

What skills is Sara Busquets Estruch known for?

Sara Busquets Estruch is listed with skills including Sumoylation, Bioluminscence Energy Resonance Transfer, Functional Molecular Characterization Of Protein Mutations, Affinity Purification Of Transcription Factor Complexes, Western Blot, Cytoscape, Geneious, and Microsoft Excel.

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