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Blyth, Moira
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1

Rare de novo gain-of-function missense variants in DOT1L ar..:

Nil, Zelha ; Deshwar, Ashish R. ; Huang, Yan...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1919-1937 , 2023
Link: https://doi.org/10.1016/..
 
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2

Monoallelic variants resulting in substitutions of MAB21L1 ..:

Hall, Hildegard Nikki ; Bengani, Hemant ; Hufnagel, Robert B....
PLOS ONE.  17 (2022)  11 - p. e0268149 , 2022
Link: https://doi.org/10.1371/..
 
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3

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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4

Extending the clinical and genetic spectrum of ARID2 relate..:

Gazdagh, Gabriella ; Blyth, Moira ; Scurr, Ingrid...
European Journal of Medical Genetics.  62 (2019)  1 - p. 27-34 , 2019
Link: https://doi.org/10.1016/..
 
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5

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of ..:

Rice, Laura ; Stockdale, Claire ; Berry, Ian...
Journal of Clinical Immunology.  39 (2019)  3 - p. 249-256 , 2019
Link: https://doi.org/10.1007/..
 
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6

Variable neurodevelopmental and morphological phenotypes of..:

Myers, Lynnea ; Blyth, Moira ; Moradkhani, Kamran...
Molecular Genetics & Genomic Medicine.  8 (2019)  1 - p. , 2019
Link: https://doi.org/10.1002/..
 
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7

Cerebral hypomyelination associated with biallelic variants..:

Lenk, Guy M. ; Berry, Ian R. ; Stutterd, Chloe A....
Human Mutation.  40 (2019)  5 - p. 619-630 , 2019
Link: https://doi.org/10.1002/..
 
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8

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 in..:

Tatton-Brown, Katrina ; Zachariou, Anna ; Loveday, Chey...
Wellcome Open Research.  3 (2018)  - p. 46 , 2018
Link: https://doi.org/10.12688..
 
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9

Cerebro–costo–mandibular syndrome: Clinical, radiological, ..:

Tooley, Madeleine ; Lynch, Danielle ; Bernier, Francois...
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1115-1126 , 2016
Link: https://doi.org/10.1002/..
 
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10

Rare loss-of-function variants in SETD1A are associated wit..:

Swedish Schizophrenia Study ; Singh, Tarjinder ; Kurki, Mitja I...
Nature Neuroscience.  19 (2016)  4 - p. 571-577 , 2016
Link: https://doi.org/10.1038/..
 
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11

Cover Image, Volume 170A, Number 5, May 2016:

Tooley, Madeleine ; Lynch, Danielle ; Bernier, Francois...
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. , 2016
Link: https://doi.org/10.1002/..
 
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12

Discovery of four recessive developmental disorders using p..:

the DDD study ; Akawi, Nadia ; McRae, Jeremy...
Nature Genetics.  47 (2015)  11 - p. 1363-1369 , 2015
Link: https://doi.org/10.1038/..
 
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13

21q21 deletion involving NCAM2: Report of 3 cases with neur..:

Petit, Florence ; Plessis, Ghislaine ; Decamp, Matthieu...
European Journal of Medical Genetics.  58 (2015)  1 - p. 44-46 , 2015
Link: https://doi.org/10.1016/..
 
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14

Homozygosity for a novel deletion downstream of the SHOX ge..:

Bunyan, David J. ; Taylor, Emma‐Jane ; Maloney, Vivienne K..
American Journal of Medical Genetics Part A.  164 (2014)  11 - p. 2764-2768 , 2014
Link: https://doi.org/10.1002/..
 
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15

A 2.3Mb deletion of 17q24.2–q24.3 associated with 'Carney C..:

Blyth, Moira ; Huang, Shuwen ; Maloney, Viv..
European Journal of Medical Genetics.  51 (2008)  6 - p. 672-678 , 2008
Link: https://doi.org/10.1016/..
 
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