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Wendy D Jones

Showing results (11-20 of 25) with videos related to

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Human Molecular Genetics|May 11, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disordersSunwoo Lee, Lara Menzies, Eleanor Hay, et al.
American Journal of Medical Genetics. Part A|January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disordersLorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 27, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsiesSimona Balestrini, Daniela Chiarello, Maria Gogou, et al.
Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
Human Molecular Genetics|September 6, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyriaAthina Ververi, Sara Zagaglia, Lara Menzies, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Human Molecular Genetics|May 11, 2023
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disordersSunwoo Lee, Lara Menzies, Eleanor Hay, et al.
American Journal of Medical Genetics. Part A|January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disordersLorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 27, 2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsiesSimona Balestrini, Daniela Chiarello, Maria Gogou, et al.
Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
Human Molecular Genetics|September 6, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyriaAthina Ververi, Sara Zagaglia, Lara Menzies, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
Nature Genetics|October 6, 2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNadia Akawi, Jeremy McRae, Morad Ansari, et al.
Science (New York, N.Y.)|November 10, 2018
Quantifying the contribution of recessive coding variation to developmental disordersHilary C Martin, Wendy D Jones, Rebecca McIntyre, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
Pageof 3