Researcher
Alejandro Sifrim
- Disciplines:Scientific computing, Animal biology, Bioinformatics and computational biology, Genetics, Systems biology, Gynaecology and obstetrics, Molecular and cell biology, Morphological sciences, Oncology, Medical biotechnology, Gerontology and geriatrics, Medical systems biology, Neurosciences
Affiliations
- Laboratory of Reproductive Genomics (Division)
Member
From17 Oct 2016 → Today
Projects
1 - 4 of 4 results
- Deep familial phenotyping and genotyping to resolve phenotypic variability of inherited pathogenic genetic variantsFrom1 Oct 2019 → TodayFunding: BOF - projects
- Development of an interdisciplinary platform for spatial multi-omic analysis of single cellsFrom1 Oct 2019 → TodayFunding: BOF - Concerted Research Project from 1994 (pro memore - non-attributable)
- Development of a statistical framework for the analysis of single-cell multiomics datasets: towards a molecular atlas of the development of human preimplantation embryos.From1 Oct 2017 → TodayFunding: FWO fellowships
- High-throughput mutation analysis trough genomic data integration, genomic DNA capture and ultra high-throughput sequencing: towards the discovery of mutation networks.From8 Sep 2009 → 23 Dec 2016Funding: IWT personal funding - strategic basic research grants
Publications
1 - 10 of 35 results
- Contribution of retrotransposition to developmental disorders(2019)Journal: Nature CommunicationsIssue: 1Volume: 10
Authors: Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha, Juliet Handsaker, Sebastian S Gerety, Holly Ironfield, Patrick J Short, Alejandro Sifrim, et al.
Number of pages: 10 - Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy(2019)Journal: American Journal of Human GeneticsISSN: 0002-9297Issue: 6Volume: 104
Authors: Anne H O'Donnell-Luria, Lynn S Pais, Victor Faundes, Jordan C Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, et al.
Pages: 1210 - 1222Number of pages: 13 - CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)(2019)Journal: Nature CommunicationsVolume: 10
Authors: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swoboda, et al.
Number of pages: 4 - Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection(2019)Journal: Nature NeuroscienceISSN: 1097-6256Issue: 2Volume: 22
Authors: Wenjun Zhou, Yanlin He, Atteeq U Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying-Wooi Wan, Basil Paul, Chuhan Wang, et al.
Pages: 205 - +Number of pages: 17 - Early lineage segregation of multipotent embryonic mammary gland progenitors (vol 20, pg 666, 2018)(2018)Journal: Nature Cell BiologyISSN: 1465-7392Issue: 9Volume: 20
Authors: Aline Wuidart, Alejandro Sifrim, Marco Fioramonti, Shigeru Matsumura, Audrey Brisebarre, Daniel Brown, Alessia Centonze, Anne Dannau, Christine Dubois, Alexandra Van Keymeulen, et al.
Pages: 1099 - 1099Number of pages: 1 - Identification of the tumour transition states occurring during EMT(2018)Journal: NatureISSN: 0028-0836Issue: 7702Volume: 556
Authors: Ievgenia Pastushenko, Audrey Brisebarre, Alejandro Sifrim, Marco Fioramonti, Tatiana Revenco, Soufiane Boumahdi, Alexandra Van Keymeulen, Daniel Brown, Virginie Moers, Sophie Lemaire, et al.
Pages: 463 - 468 - De novo mutations in regulatory elements in neurodevelopmental disorders(2018)Journal: NatureISSN: 0028-0836Issue: 7698Volume: 555
Authors: Patrick J Short, Jeremy F McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H Geschwind, Caroline F Wright, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett, et al.
Pages: 611 - 616 - Detection of structural mosaicism from targeted and whole-genome sequencing data(2017)Journal: Genome ResearchISSN: 1088-9051Issue: 10Volume: 27
Authors: Daniel A King, Alejandro Sifrim, Tomas W Fitzgerald, Raheleh Rahbari, Emma Hobson, Tessa Homfray, Sahar Mansour, Sarju G Mehta, Mohammed Shehla, Susan E Tomkins, et al.
Pages: 1704 - 1714 - Clinical and molecular consequences of disease-associated de novo mutations in SATB2(2017)Journal: Genetics in Medicine : Official Journal of the American College of Medical GeneticsISSN: 1098-3600Issue: 8Volume: 19
Authors: Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, et al.
Pages: 900 - 908 - Prevalence and architecture of de novo mutations in developmental disorders(2017)Journal: NatureISSN: 0028-0836Issue: 7642Volume: 542
Authors: The Deciphering Developmental Disorder Study, Stephen Clayton, Tomas W Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, et al.
Pages: 433 - +Number of pages: 20