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Belnap, Newell
43
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Online (43)
Mediatypes
Articles (Online) (19)
OpenAccess-fulltext (24)
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1
FGF12 copy number variant associated with epileptic encepha..:
Abraham, Anna
;
Ramsey, Keri
;
Belnap, Newell
...
Clinical Genetics. 106 (2024) 1 - p. 114-115 , 2024
Link:
https://doi.org/10.1111/..
?
2
The spectrum of heart defects in theTRAF7-related multiple ..:
Pisan, Elise
;
De Luca, Chiara
;
Brancati, Francesco
...
Proceedings of the National Academy of Sciences. 121 (2024) 12 - p. , 2024
Link:
https://doi.org/10.1073/..
?
3
Snyder-Robinson syndrome presenting with learning disabilit..:
Leung, Megumi
;
Sanchez-Castillo, Meredith
;
Belnap, Newell
...
Rare. 2 (2024) - p. 100017 , 2024
Link:
https://doi.org/10.1016/..
?
4
Gain-of-function variants in the ion channel gene TRPM3 und..:
Van Hoeymissen, Evelien
;
Burglen, Lydie
;
Qebibo, Leila
...
eLife. 12 (2023) - p. , 2023
Link:
https://doi.org/10.7554/..
?
5
Inherited CSNK2A1 variants in families with Okur‐Chung neur..:
Belnap, Newell
;
Price‐Smith, Aiai
;
Ramsey, Keri
...
Clinical Genetics. 104 (2023) 5 - p. 607-609 , 2023
Link:
https://doi.org/10.1111/..
?
6
Genetic and Protein Network Underlying the Convergence of R..:
Frankel, Eric
;
Podder, Avijit
;
Sharifi, Megan
...
Cells. 12 (2023) 10 - p. 1437 , 2023
Link:
https://doi.org/10.3390/..
?
7
Progressive cerebellar atrophy caused by heterozygous TECPR..:
Ramsey, Keri
;
Belnap, Newell
;
Bonfitto, Anna
...
Molecular Genetics & Genomic Medicine. 10 (2022) 2 - p. , 2022
Link:
https://doi.org/10.1002/..
?
8
Progressive bilateral nuclear cataracts associated with cer..:
Pandey, Brianna
;
Belnap, Newell
;
Balak, Chris
...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 25 (2021) 6 - p. 370-373 , 2021
Link:
https://doi.org/10.1016/..
?
9
Loss-of-function and missense variants in NSD2 cause decrea..:
Zanoni, Paolo
;
Steindl, Katharina
;
Sengupta, Deepanwita
...
Genetics in Medicine. 23 (2021) 8 - p. 1474-1483 , 2021
Link:
https://doi.org/10.1038/..
?
10
Improved methods for RNAseq-based alternative splicing anal..:
Halperin, Rebecca F.
;
Hegde, Apurva
;
Lang, Jessica D.
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
11
Front Cover, Volume 41, Issue 2:
McCullough, Carmel G.
;
Szelinger, Szabolcs
;
Belnap, Newell
...
Human Mutation. 41 (2020) 2 - p. , 2020
Link:
https://doi.org/10.1002/..
?
12
Intellectual disability-associated UNC80 mutations reveal i..:
Wie, Jinhong
;
Bharthur, Apoorva
;
Wolfgang, Morgan
...
Nature Communications. 11 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1038/..
?
13
Compound heterozygous mutations in SNAP29 is associated wit..:
Llaci, Lorida
;
Ramsey, Keri
;
Belnap, Newell
...
Human Genetics. 138 (2019) 11-12 - p. 1409-1417 , 2019
Link:
https://doi.org/10.1007/..
?
14
Two additional males with X‐linked, syndromic mental retard..:
Jepsen, Wayne M.
;
Ramsey, Keri
;
Szelinger, Szabolcs
...
Clinical Genetics. 96 (2019) 2 - p. 183-185 , 2019
Link:
https://doi.org/10.1111/..
?
15
Utilizing RNA and outlier analysis to identify an intronic ..:
McCullough, Carmel G.
;
Szelinger, Szabolcs
;
Belnap, Newell
...
Human Mutation. 41 (2019) 2 - p. 412-419 , 2019
Link:
https://doi.org/10.1002/..
1-15