Pilar Cacheiro

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 34

Top Topics

Induced Pluripotent Stem Cells

Top Venues

Prenatal diagnosis

Disease models & mechanisms

medRxiv : the preprint server for health sciences

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, null The International Mouse Phenotyping Consortium, Damian Smedley
Computational identification of disease models through cross-species phenotype comparison. Disease models & mechanisms 17 (6) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, null The International Mouse Phenotyping Consortium, Damian Smedley
Computational identification of disease models through cross-species phenotype comparison. Disease models & mechanisms 17 (6) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, null The International Mouse Phenotyping Consortium, Damian Smedley
Computational identification of disease models through cross-species phenotype comparison. Disease models & mechanisms 17 (6) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, null The International Mouse Phenotyping Consortium, Damian Smedley
Computational identification of disease models through cross-species phenotype comparison. Disease models & mechanisms 17 (6) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Pilar Cacheiro, Diego Pava, Helen Parkinson, Maya VanZanten, Robert Wilson, Osman Gunes, null null, Damian Smedley
Computational identification of disease models through cross-species phenotype comparison. Disease models & mechanisms (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease. Disease models & mechanisms (2023)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice are an important tool for human monogenic heart disease studies. Disease models & mechanisms 16 (5) (2023)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice are an important tool for human monogenic heart disease studies. Disease models & mechanisms 16 (5) (2023)
Pilar Cacheiro, Nadine Spielmann, Hamed Haseli Mashhadi, Helmut Fuchs, Valérie Gailus-Durner, Damian Smedley, Martin Hrabě de Angelis
Knockout mice are an important tool for human monogenic heart disease studies. Disease models & mechanisms 16 (5) (2023)
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J Edwards, Simone Afriyie, Julia C Bay, Kathryn M Harper, Alvaro A Beltran, Lorena J Munoz, Liset Falcon Rodriguez, Michael C Stankewich, Richard E Person, Yue Si, Elizabeth A Normand, Amy Blevins, Alison S May, Louise Bier, Vimla Aggarwal, Grazia M S Mancini, Marjon A van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer J MacKenzie, Eva Brilstra, Koen L I van Gassen, Richard H van Jaarsveld, Renske Oegema, Gretchen M Parsons, Paul Mark, Ingo Helbig, Sarah E McKeown, Robert Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T C Shieh, Amy Kritzer, Parul Jayakar, Evangeline Kurtz-Nelson, Raphael A Bernier, Tianyun Wang, Evan E Eichler, Ingrid M B H van de Laar, Allyn McConkie-Rosell, Marie T McDonald, Jennifer Kemppainen, Brendan C Lanpher, Laura E Schultz-Rogers, Lauren B Gunderson, Pavel N Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, null null, null null, Adriana S Beltran, Michael T Zimmermann, Brenda Temple, Sheryl S Moy, Eric W Klee, Queenie K-G Tan, Damaris N Lorenzo
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nature genetics 53 (7) (2021)
Pilar Cacheiro, Violeta Munoz Fuentes, Stephen A Murray, Mary E Dickinson, Maja Bucan, Lauryl M J Nutter, Kevin A Peterson, Hamed Haseli Mashhadi, Ann M Flenniken, Hugh Morgan, Henrik Westerberg, Tomasz Konopka, Chih-Wei Hsu, Audrey Christiansen, Denise G Lanza, Arthur L Beaudet, Jason D Heaney, Helmut Fuchs, Valérie Gailus-Durner, Tania Sorg, Jan Prochazka, Vendula Novosadova, Christopher J Lelliott, Hannah Wardle-Jones, Sara Wells, Lydia Teboul, Heather Cater, Michelle Stewart, Tertius Hough, Wolfgang Wurst, Radislav Sedlacek, David J Adams, John R Seavitt, Glauco Tocchini-Valentini, Terrence F Meehan, Robert E Braun, Colin McKerlie, Yann Hérault, Martin Hrabě de Angelis, Ann-Marie Mallon, Kevin C Kent Lloyd, Steve D M Brown, Helen Parkinson, Terrence F Meehan, Damian Smedley, null null, null null
Human and mouse essentiality screens as a resource for disease gene discovery. Nature communications 11 (1) (2020)
Pilar Cacheiro, Melissa A Haendel, Damian Smedley, null null
New models for human disease from the International Mouse Phenotyping Consortium. Mammalian genome : official journal of the International Mammalian Genome Society 30 (5-6) (2019)
Violeta Munoz Fuentes, Pilar Cacheiro, Terrence F Meehan, Juan Antonio Aguilar-Pimentel, Steve D M Brown, Ann M Flenniken, Paul Flicek, Antonella Galli, Hamed Haseli Mashhadi, Martin Hrabě de Angelis, Jong Kyoung Kim, K C Kent Lloyd, Colin McKerlie, Hugh Morgan, Stephen A Murray, Lauryl M J Nutter, Patrick T Reilly, John R Seavitt, Je Kyung Seong, Michelle Simon, Hannah Wardle-Jones, Ann-Marie Mallon, Damian Smedley, Helen E Parkinson, null null
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation. Conservation genetics (Print) 19 (4) (2018)