Jacqueline A.C. Goos

Author

Also Known As

David Geneviève, J A C Goos, Jacqueline A C Goos, Jacqueline A. C. Goos, Jacqueline A. Goos, Jacqueline A.C. Goos, Jacqueline AC Goos, Jacqueline Goos, Jacqueline A.C. Goos

Publications

949

Citations

H-Index

Concepts

All Affiliations

Erasmus MC University of Oxford John Radcliffe Hospital Oxford University Hospitals NHS Trust MRC Weatherall Institute of Molecular Medicine

About

Jacqueline A.C. Goos is an author at Erasmus MC specializing in medicine, craniofacial development, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	422
2	Cell Biology	4	4	345
3	Molecular Biology	3	3	283
4	Molecular Genetics	3	3	306
5	Natural Sciences	1	1	31

Jacqueline A.C. Goos

Publications

847

Citations

H-Index

Page 1

	Year	Citations
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis Vikram Sharma, Aimée L Fenwick, Mia Brockop, Nature Genetics Frequent CauseMolecular BiologyCraniofacial DevelopmentMolecular GeneticsMedicine	2013	218
Diagnostic value of exome and whole genome sequencing in craniosynostosis Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan, Journal of Medical Genetics	2016	120
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability Stephen R.F. Twigg, Jennifer Forecki, Jacqueline A.C. Goos, The American Journal of Human Genetics	2015	79
Distribution of Glycine/GABA Neurons in the Ventromedial Medulla with Descending Spinal Projections and Evidence for an Ascending Glycine/GABA Projection Mehdi Hossaini, Jacqueline A.C. Goos, Somesh K. Kohli, PLoS ONE	2012	70
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, The American Journal of Human Genetics Syndromic Developmental DisorderMediator ActivityGeneticsMolecular GeneticsDisease Gene Identification	2019	62
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 Marijke E.P. van den Elzen, Stephen R.F. Twigg, Jacqueline A.C. Goos, European Journal of Human Genetics Pathogenic MutationMendelian DisorderGenetic DisorderGeneticsPathology	2013	51
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, The American Journal of Human Genetics	2018	48
Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis Vikram Sharma, Aimée L Fenwick, Mia Brockop, The Lancet Basic-helix-loop-helix PartnerFrequent CauseMolecular BiologyCraniofacial DevelopmentMedicine	2013	34
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency Narissara Suratannon, Rogier T. A. van Wijck, Linda Broer, Frontiers in Immunology	2020	33
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis Jacqueline A.C. Goos, W. Vogel, Hana Mlčochová, Human Molecular Genetics SclerostinGenomic MechanismMolecular BiologyTranscriptional RegulationBone Morphogenic Protein	2019	31

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