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Rippert, Alyssa L.
19
results:
Search for persons
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Format
Online (19)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (4)
Sorted by: Relevance
Sorted by: Year
?
1
Expanding the clinical phenotype and variant spectrum assoc..:
Sisroe, Talia
;
Santos, Attila Dos
;
Rippert, Alyssa L.
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
2
Genetic counseling for the dystrophinopathies—Practice reso..:
Pickart, Angela M.
;
Martin, Ann S.
;
Gross, Brianna N.
...
Journal of Genetic Counseling. , 2024
Link:
https://doi.org/10.1002/..
?
3
P178: Longitudinal neurodevelopmental and medical outcomes ..:
Rippert, Alyssa
;
Cook, Edward
;
Nair, Divya
..
Genetics in Medicine Open. 2 (2024) - p. 101075 , 2024
Link:
https://doi.org/10.1016/..
?
4
P386: Agenesis of olfactory apparatus due to intragenic del..:
Donoghue, Sarah
;
Skraban, Cara
;
Squicciarini, Jake
...
Genetics in Medicine Open. 2 (2024) - p. 101280 , 2024
Link:
https://doi.org/10.1016/..
?
5
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyo..:
Keisling, Julia
;
Bedoukian, Emma
;
Burstein, Danielle S.
...
The Journal of Pediatrics. 265 (2024) - p. 113808 , 2024
Link:
https://doi.org/10.1016/..
?
6
P260: Healthcare utilization in pediatric patients with Noo..:
Reef, Rebecca
;
Rippert, Alyssa
;
Cook, Edward
..
Genetics in Medicine Open. 2 (2024) - p. 101156 , 2024
Link:
https://doi.org/10.1016/..
?
7
Neurodevelopmental disorder mutations in the purine biosynt..:
O'Neill, Audrey G.
;
Burrell, Anika L.
;
Zech, Michael
...
Journal of Biological Chemistry. 299 (2023) 8 - p. 105012 , 2023
Link:
https://doi.org/10.1016/..
?
8
Expansion of clinical and variant spectrum of EEF2‐related ..:
Guo, Rose
;
Rippert, Alyssa L.
;
Cook, Edward B.
...
American Journal of Medical Genetics Part A. 191 (2023) 10 - p. 2602-2609 , 2023
Link:
https://doi.org/10.1002/..
?
9
Dominant-negative variants in CBX1 cause a neurodevelopment..:
Kuroda, Yukiko
;
Iwata-Otsubo, Aiko
;
Dias, Kerith-Rae
...
Genetics in Medicine. 25 (2023) 7 - p. 100861 , 2023
Link:
https://doi.org/10.1016/..
?
10
Monoallelic loss-of-function BMP2 variants result in BMP2-r..:
Priestley, Jessica R.C.
;
Deshwar, Ashish R.
;
Murthy, Harsha
...
Genetics in Medicine. 25 (2023) 8 - p. 100863 , 2023
Link:
https://doi.org/10.1016/..
?
11
Retrospective identification of patients with SRRM2‐related..:
Regan‐Fendt, Kelly E.
;
Rippert, Alyssa L.
;
Medne, Livija
...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2149-2155 , 2023
Link:
https://doi.org/10.1002/..
?
12
Evaluating the Utility of a New Pathogenicity Predictor for..:
Rippert, Alyssa L.
;
Trackman, Sarah
;
Burstein, Danielle
...
Human Mutation. 2023 (2023) - p. 1-8 , 2023
Link:
https://doi.org/10.1155/..
?
13
Listening to patients with suspected genetic diagnoses: A n..:
Slocum, Robert B.
;
Hurst, Anna C. E.
;
Shelley, Ellis
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2023
Link:
https://doi.org/10.1002/..
?
14
Unmasking the challenges of Kabuki syndrome in adulthood: A..:
Priestley, Jessica R. C.
;
Rippert, Alyssa L.
;
Condit, Courtney
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 2 - p. 128-138 , 2023
Link:
https://doi.org/10.1002/..
?
15
P279: Evaluating the utility of a new pathogenicity predict..:
Rippert, Alyssa
;
Trackman, Sarah
;
Burstein, Danielle
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100307 , 2023
Link:
https://doi.org/10.1016/..
1-15