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CAUSES Study
46  results:
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1

NovelCICvariants identified in individuals with neurodevelo..:

Sharma, Saloni ; Hourigan, Brenna ; Patel, Zain...
Human Mutation.  43 (2022)  7 - p. 889-899 , 2022
Link: https://doi.org/10.1002/..
 
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2

The experiences of adolescent siblings of children with rar..:

Heaton, Julia ; Wainstein, Tasha ; Elliott, Alison M....
Journal of Genetic Counseling.  32 (2022)  1 - p. 224-234 , 2022
Link: https://doi.org/10.1002/..
 
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3

The long‐term impact of receiving incidental findings on pa..:

Cheung, Faith ; Birch, Patricia ; Friedman, J. M....
Journal of Genetic Counseling.  31 (2022)  4 - p. 887-900 , 2022
Link: https://doi.org/10.1002/..
 
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4

Front Cover, Volume 43, Issue 7:

Sharma, Saloni ; Hourigan, Brenna ; Patel, Zain...
Human Mutation.  43 (2022)  7 - p. , 2022
Link: https://doi.org/10.1002/..
 
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5

After genomic testing results: Parents' long‐term views:

Liang, Nicole Si Yan ; Adam, Shelin ; Elliott, Alison M....
Journal of Genetic Counseling.  31 (2021)  1 - p. 82-95 , 2021
Link: https://doi.org/10.1002/..
 
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6

Targeted treatment of immune thrombocytopenia in CTLA‐4 ins..:

Lai, Chieh Min Benjamin ; Setiadi, Audi ; Barlas, Angeliki...
British Journal of Haematology.  196 (2021)  3 - p. , 2021
Link: https://doi.org/10.1111/..
 
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7

Correction to: Genome-wide sequencing as a first-tier scree..:

Rajan-Babu, Indhu-Shree ; Peng, Junran J. ; Chiu, Readman...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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8

New cases that expand the genotypic and phenotypic spectrum..:

Szot, Justin O. ; Slavotinek, Anne ; Chong, Karen...
Human Mutation.  42 (2021)  7 - p. 862-876 , 2021
Link: https://doi.org/10.1002/..
 
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9

Genome-wide sequencing as a first-tier screening test for s..:

Rajan-Babu, Indhu-Shree ; Peng, Junran J. ; Chiu, Readman...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

NAA10 p.(N101K) disrupts N-terminal acetyltransferase compl..:

McTiernan, Nina ; Gill, Harinder ; Prada, Carlos E....
European Journal of Human Genetics.  29 (2020)  2 - p. 280-288 , 2020
Link: https://doi.org/10.1038/..
 
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11

De novo TBR1 variants cause a neurocognitive phenotype with..:

CAUSES Study ; Nambot, Sophie ; Faivre, Laurence...
European Journal of Human Genetics.  28 (2020)  6 - p. 770-782 , 2020
Link: https://doi.org/10.1038/..
 
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12

KDM5A mutations identified in autism spectrum disorder usin..:

El Hayek, Lauretta ; Tuncay, Islam Oguz ; Nijem, Nadine...
eLife.  9 (2020)  - p. , 2020
Link: https://doi.org/10.7554/..
 
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13

The expanding clinical phenotype of germlineABL1‐associated..:

Chen, Chun‐An ; Crutcher, Emeline ; Gill, Harinder...
Human Mutation.  41 (2020)  10 - p. 1738-1744 , 2020
Link: https://doi.org/10.1002/..
 
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14

Strabismus in Children With Intellectual Disability: Part o..:

Ye, Xin (Cynthia) ; van der Lee, Robin ; Wasserman, Wyeth W....
Pediatric Neurology.  100 (2019)  - p. 87-91 , 2019
Link: https://doi.org/10.1016/..
 
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15

New developmental syndromes: Understanding the family exper..:

Inglese, Cara N. ; Elliott, Alison M. ; Lehman, Anna.
Journal of Genetic Counseling.  28 (2019)  2 - p. 202-212 , 2019
Link: https://doi.org/10.1002/..
 
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