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Raymond, F Lucy
2982  Ergebnisse:
Personensuche X
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Personal journeys to and in human genetics and dysmorpholog:

Schwartz, Charles E. ; Aylsworth, Arthur S. ; Allanson, Judith...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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Population screening requires robust evidence—genomics is n..:

Turnbull, Clare ; Firth, Helen V ; Wilkie, Andrew O M...
The Lancet.  403 (2024)  10426 - p. 583-586 , 2024
Link: https://doi.org/10.1016/..
 
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Mapping the Constrained Coding Regions in the Human Genome ..:

Hasenahuer, Marcia A. ; Sanchis-Juan, Alba ; Laskowski, Roman A....
Journal of Molecular Biology.  435 (2023)  2 - p. 167892 , 2023
Link: https://doi.org/10.1016/..
 
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Genome sequencing and comprehensive rare-variant analysis o..:

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1343-1355 , 2023
Link: https://doi.org/10.1016/..
 
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Mental health impact of autism on families of children with..:

Wolstencroft, Jeanne ; Srinivasan, Ramya ; Hall, Jeremy...
JCPP Advances.  3 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
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Sleep disturbance as a transdiagnostic marker of psychiatri..:

Chawner, Samuel J. R. A. ; Evans, Alexandra ; Wolstencroft, Jeanne...
Translational Psychiatry.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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Identifying the neurodevelopmental and psychiatric signatur..:

Donnelly, Nicholas ; Cunningham, Adam ; Salas, Sergio Marco...
Molecular Autism.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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Clinical and Neurophysiologic Phenotypes in Neonates WithBR..:

Carapancea, Evelina ; Cornet, Marie-Coralie ; Milh, Mathieu...
Neurology.  100 (2023)  12 - p. , 2023
Link: https://doi.org/10.1212/..
 
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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelop..:

Reid, Kimberley M. ; Spaull, Robert ; Salian, Smrithi...
Movement Disorders.  37 (2022)  10 - p. 2139-2146 , 2022
Link: https://doi.org/10.1002/..
 
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Rare pathogenic variants in WNK3 cause X-linked intellectua..:

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas...
Genetics in Medicine.  24 (2022)  9 - p. 1941-1951 , 2022
Link: https://doi.org/10.1016/..
 
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Refinements and considerations for trio whole-genome sequen..:

French, Courtney E. ; Dolling, Helen ; Mégy, Karyn...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100113 , 2022
Link: https://doi.org/10.1016/..
 
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Non-Mendelian inheritance patterns and extreme deviation ra..:

Annear, Dale J. ; Vandeweyer, Geert ; Sanchis-Juan, Alba..
Genome Research.  32 (2022)  11-12 - p. 1967-1980 , 2022
Link: https://doi.org/10.1101/..
 
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Correction: The psychiatric phenotypes of 1q21 distal delet..:

Linden, Stefanie C. ; Watson, Cameron J. ; Smith, Jacqueline...
Translational Psychiatry.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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Identification and functional modelling of plausibly causat..:

Bengani, Hemant ; Grozeva, Detelina ; Moyon, Lambert...
PLOS ONE.  16 (2021)  8 - p. e0256181 , 2021
Link: https://doi.org/10.1371/..
 
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The psychiatric phenotypes of 1q21 distal deletion and dupl..:

Linden, Stefanie C. ; Watson, Cameron J. ; Smith, Jacqueline...
Translational Psychiatry.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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