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Sheridan, Eamonn
136  results:
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1

A recurrent de novo MAX p.Arg60Gln variant causes a syndrom..:

Harris, Erica L. ; Roy, Vincent ; Montagne, Martin...
The American Journal of Human Genetics.  111 (2024)  1 - p. 119-132 , 2024
Link: https://doi.org/10.1016/..
 
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2

A recurrent de novo MAX p.Arg60Gln variant causes a syndrom..:

Harris, Erica L ; Roy, Vincent ; Montagne, Martin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806738/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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3

Comparative proximity biotinylation implicates the small GT..:

Kiss, Robert S. ; Chicoine, Jarred ; Khalil, Youssef...
Journal of Biological Chemistry.  299 (2023)  11 - p. 105295 , 2023
Link: https://doi.org/10.1016/..
 
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4

Comparative proximity biotinylation implicates the small GT..:

Kiss, Robert S ; Chicoine, Jarred ; Khalil, Youssef...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10641524/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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5

Comparative proximity biotinylation implicates the small GT..:

Kiss, Robert S ; Chicoine, Jarred ; Khalil, Youssef...
https://discovery.ucl.ac.uk/id/eprint/10178160/1/1-s2.0-S0021925823023232-main%20%281%29.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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6

Fine-scale population structure and demographic history of ..:

Arciero, Elena ; Dogra, Sufyan A. ; Malawsky, Daniel S....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

Videoconferencing to deliver genetics services: a systemati..:

Brown, Elizabeth G. ; Watts, Isabella ; Beales, Emily R....
Genetics in Medicine.  23 (2021)  8 - p. 1438-1449 , 2021
Link: https://doi.org/10.1038/..
 
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8

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
qt6w53352f.  , 2021
Link: https://escholarship.org..
 
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9

The contribution of X-linked coding variation to severe dev..:

Martin, Hilary C ; Gardner, Eugene J ; Samocha, Kaitlin E...
doi:10.17863/CAM.63889.  , 2021
Link: https://doi.org/10.17863..
 
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10

Fine-scale population structure and demographic history of ..:

Elena Arciero ; Sufyan A. Dogra ; Daniel S. Malawsky...
https://doi.org/10.1038/s41467-021-27394-2.  , 2021
Link: https://doi.org/10.1038/..
 
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11

Fine-scale population structure and demographic history of ..:

Arciero, Elena ; Dogra, Sufyan A ; Malawsky, Daniel S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8664933/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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12

Chorea-related mutations in PDE10A result in aberrant compa..:

Tejeda, Gonzalo S. ; Whiteley, Ellanor L. ; Deeb, Tarek Z....
Proceedings of the National Academy of Sciences of the United States of America.  117 (2020)  1 - p. 677-688 , 2020
Link: https://www.jstor.org/st..
 
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13

Enhancing inclusion of diverse populations in genomics: A c..:

Sharif, Saghira M. ; Blyth, Moira ; Ahmed, Mushtaq...
Journal of Genetic Counseling.  29 (2020)  2 - p. 282-292 , 2020
Link: https://doi.org/10.1002/..
 
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14

Cas9-based enrichment and single-molecule sequencing for pr..:

Watson, Christopher M. ; Crinnion, Laura A. ; Hewitt, Sarah...
Laboratory Investigation.  100 (2020)  1 - p. 135-146 , 2020
Link: https://doi.org/10.1038/..
 
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15

Novel loss-of-function mutation in HERC2 is associated with..:

Elpidorou, Marilena ; Best, Sunayna ; Poulter, James A...
Journal of Medical Genetics.  58 (2020)  5 - p. 334-341 , 2020
Link: https://doi.org/10.1136/..
 
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