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Spillmann, Rebecca C
174  Ergebnisse:
Personensuche X
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1

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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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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/..
 
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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/..
 
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7

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/..
 
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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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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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/..
 
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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/..
 
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15

Looking beyond the exome: a phenotype-first approach to mol..:

Pena, Loren D.M. ; Jiang, Yong-Hui ; Schoch, Kelly...
Genetics in Medicine.  20 (2018)  4 - p. 464-469 , 2018
Link: https://doi.org/10.1038/..
 
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