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Spillmann, Rebecca C
133
results:
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english (118)
german (2)
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1
A concurrent dual analysis of genomic data augments diagnos..:
Spillmann, Rebecca C.
;
Tan, Queenie K.-G.
;
Reuter, Chloe
...
Genetics in Medicine. 25 (2023) 4 - p. 100353 , 2023
Link:
https://doi.org/10.1016/..
?
2
Exome/Genome Sequencing in Undiagnosed Syndromes:
Sullivan, Jennifer A.
;
Schoch, Kelly
;
Spillmann, Rebecca C.
.
Annual Review of Medicine. 74 (2023) 1 - p. 489-502 , 2023
Link:
https://doi.org/10.1146/..
?
3
Unraveling non‐participation in genomic research: A complex..:
McConkie‐Rosell, Allyn
;
Spillmann, Rebecca C.
;
Schoch, Kelly
...
Journal of Genetic Counseling. 32 (2023) 5 - p. 993-1008 , 2023
Link:
https://doi.org/10.1002/..
?
4
SPTSSA variants alter sphingolipid synthesis and cause a co..:
Srivastava, Siddharth
;
Shaked, Hagar Mor
;
Gable, Kenneth
...
Brain. 146 (2023) 4 - p. 1420-1435 , 2023
Link:
https://doi.org/10.1093/..
?
5
Monoallelic variation in DHX9, the gene encoding the DExH-b..:
Calame, Daniel G.
;
Guo, Tianyu
;
Wang, Chen
...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1394-1413 , 2023
Link:
https://doi.org/10.1016/..
?
6
The best of both worlds: Blending cutting‐edge research wit..:
Sullivan, Jennifer A.
;
Spillmann, Rebecca C.
;
Schoch, Kelly
...
Clinical Genetics. 105 (2023) 1 - p. 62-71 , 2023
Link:
https://doi.org/10.1111/..
?
7
Clinical application of a scale to assess genomic healthcar..:
McConkie‐Rosell, Allyn
;
Schoch, Kelly
;
Sullivan, Jennifer
...
Journal of Genetic Counseling. 31 (2021) 1 - p. 59-70 , 2021
Link:
https://doi.org/10.1002/..
?
8
Correction: Phenotypic expansion of CACNA1C-associated diso..:
Rodan, Lance H.
;
Spillmann, Rebecca C.
;
Kurata, Harley T.
...
Genetics in Medicine. 23 (2021) 10 - p. 2016 , 2021
Link:
https://doi.org/10.1038/..
?
9
Pathogenic SPTBN1 variants cause an autosomal dominant neur..:
Cousin, Margot A.
;
Creighton, Blake A.
;
Breau, Keith A.
...
Nature Genetics. 53 (2021) 7 - p. 1006-1021 , 2021
Link:
https://doi.org/10.1038/..
?
10
Phenotypic expansion of CACNA1C-associated disorders to inc..:
Rodan, Lance H.
;
Spillmann, Rebecca C.
;
Kurata, Harley T.
...
Genetics in Medicine. 23 (2021) 10 - p. 1922-1932 , 2021
Link:
https://doi.org/10.1038/..
?
11
Early infantile epileptic encephalopathy due to biallelic p..:
Johnstone, Devon L.
;
Nguyen, Thi Tuyet Mai
;
Zambonin, Jessica
...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1321-1332 , 2020
Link:
https://doi.org/10.1002/..
?
12
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabu..:
Baldridge, Dustin
;
Spillmann, Rebecca C.
;
Wegner, Daniel J.
...
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1053-1065 , 2020
Link:
https://doi.org/10.1002/..
?
13
Characteristics of undiagnosed diseases network applicants:..:
Undiagnosed Diseases Network
;
Walley, Nicole M.
;
Pena, Loren D. M.
...
BMC Health Services Research. 18 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
14
Psychosocial Profiles of Parents of Children with Undiagnos..:
McConkie‐Rosell, Allyn
;
Hooper, Stephen R.
;
Pena, Loren D. M.
...
Journal of Genetic Counseling. 27 (2018) 4 - p. 935-946 , 2018
Link:
https://doi.org/10.1007/..
?
15
Understanding Adult Participant and Parent Empowerment Prio..:
Palmer, Christina G. S.
;
McConkie‐Rosell, Allyn
;
Holm, Ingrid A.
...
Journal of Genetic Counseling. 27 (2018) 5 - p. 1087-1101 , 2018
Link:
https://doi.org/10.1007/..
1-15