The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

Tudor Groza, Federico López, Hamed Mashhadi, +14

Nucleic Acids Research

The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation

Violeta Muñoz‐Fuentes, Pilar Cacheiro, Terrence F. Meehan, +21

Conservation Genetics

Human and mouse essentiality screens as a resource for disease gene discovery

Pilar Cacheiro, Violeta Muñoz‐Fuentes, Stephen A. Murray, +193

Nature Communications

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau, +64

Nature Genetics

Developmental AnomalyPathogenic Sptbn1 VariantsBrain DevelopmentMedicineGenetics +5

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

María García-Murias, Beatriz Quintáns, Manuel Arias, +14

Brain

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, +33

American Journal of Medical Genetics Part C Seminars in Medical Genetics

GeneticsReproductive HealthPrenatal PhenotypingEpigeneticsEmbryology +20

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, +38

The American Journal of Human Genetics

Neuromodulation (Medicine)NeurophysiologyProgressive NeurodegenerationIon ChannelsNeurology +6

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

Ángel Sesar, Pilar Cacheiro, Marisol López, +11

Journal of the Neurological Sciences

Parkinson DiseaseExperimental NeuropathologyNew EvidenceNeuroscienceNeurology +6

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development

Justine M. Chee, Louise Lanoue, Dave Clary, +205

BMC Biology

Mendelian gene identification through mouse embryo viability screening

Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, +118

Genome Medicine