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Mefford, Heather
431  results:
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1

P438: Clinical RNA sequencing to clarify variants of uncert..:

Cech, Jennifer ; Miller, Danny ; Paschal, Cate...
Genetics in Medicine Open.  1 (2023)  1 - p. 100485 , 2023
Link: https://doi.org/10.1016/..
 
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2

Neurodevelopmental copy-number variants: A roadmap to impro..:

Buttermore, Elizabeth ; Chamberlain, Stormy ; Cody, Jannine...
The American Journal of Human Genetics.  109 (2022)  8 - p. 1353-1365 , 2022
Link: https://doi.org/10.1016/..
 
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3

De novo FZR1 loss-of-function variants cause developmental ..:

Manivannan, Sathiya N ; Roovers, Jolien ; Smal, Noor...
Brain.  145 (2021)  5 - p. 1684-1697 , 2021
Link: https://doi.org/10.1093/..
 
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4

Severe speech impairment is a distinguishing feature of FOX..:

Braden, Ruth O ; Amor, David J ; Fisher, Simon E...
Developmental Medicine & Child Neurology.  63 (2021)  12 - p. 1417-1426 , 2021
Link: https://doi.org/10.1111/..
 
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5

Reanalysis and optimisation of bioinformatic pipelines is c..:

Cowley, Mark J ; Liu, Yu‐Chi ; Oliver, Karen L....
Human Mutation.  40 (2019)  4 - p. 374-379 , 2019
Link: https://doi.org/10.1002/..
 
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6

The epilepsy phenotypic spectrum associated with a recurren..:

Chatron, Nicolas ; Møller, Rikke S. ; Champaigne, Neena L....
Annals of Neurology.  83 (2018)  5 - p. 926-934 , 2018
Link: https://doi.org/10.1002/..
 
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7

Severe neurocognitive and growth disorders due to variation..:

Kumar, Raman ; Gardner, Alison ; Homan, Claire C....
Human Mutation.  39 (2018)  8 - p. 1126-1138 , 2018
Link: https://doi.org/10.1002/..
 
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8

2014 Epilepsy Benchmarks Area I: Understanding the Causes o..:

Caplan, Rochelle ; Mefford, Heather ; Berl, Madison...
Epilepsy Currents.  16 (2016)  3 - p. 182-186 , 2016
Link: https://doi.org/10.5698/..
 
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9

16p11.2 600 kb Duplications confer risk for typical and aty..:

Reinthaler, Eva M. ; Lal, Dennis ; Lebon, Sebastien...
Human Molecular Genetics.  23 (2014)  22 - p. 6069-6080 , 2014
Link: https://doi.org/10.1093/..
 
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10

15q13.3 microdeletions in a prospectively recruited cohort ..:

Kirov, Andrey ; Dimova, Petia ; Todorova, Albena...
Epilepsy Research.  104 (2013)  3 - p. 241-245 , 2013
Link: https://doi.org/10.1016/..
 
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11

Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence o..:

Tucci, Arianna ; Kara, Eleanna ; Schossig, Anna...
Human Mutation.  34 (2012)  2 - p. 296-300 , 2012
Link: https://doi.org/10.1002/..
 
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12

Analysis of the variation in chromosome size among diverse ..:

Mefford, Heather ; van den Engh, G. ; Friedman, Cynthia.
Human Genetics.  100 (1997)  1 - p. 138-144 , 1997
Link: https://doi.org/10.1007/..
 
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13

Quantification by flow cytometry of chromosome-17 deletions..:

Trask, B. J. ; Mefford, Heather ; van den Engh, Ger...
Human Genetics.  98 (1996)  6 - p. 710-718 , 1996
Link: https://doi.org/10.1007/..
 
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14

Leveraging multiple approaches for the detection of pathoge..:

Nyaga, Denis M. ; Hildebrand, Michael S. ; de Valles‐Ibáñez, Guillem...
Epilepsia Open.  9 (2024)  2 - p. 758-764 , 2024
Link: https://doi.org/10.1002/..
 
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15

Familial aggregation of seizure outcomes in four familial e..:

Ellis, Colin A. ; Tu, Danni ; Oliver, Karen L....
Epilepsia.  , 2024
Link: https://doi.org/10.1111/..
 
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