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Juliann M. Savatt
~ 100
results:
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Format
Online
Mediatypes
Articles (Online)
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1
Clinical variants paired with phenotype: A rich resource fo..:
Chopra, Maya
;
Savatt, Juliann M.
;
Bingaman, Taylor I.
...
Genetics in Medicine. 26 (2024) 3 - p. 101035 , 2024
Link:
https://doi.org/10.1016/..
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2
PO-01-060 ARRHYTHMIA BURDEN AND DISTRIBUTION ACROSS THE TTN..:
Kelly, Melissa A.
;
Savatt, Juliann M.
;
Haggerty, Christopher
...
Heart Rhythm. 21 (2024) 5 - p. S194-S195 , 2024
Link:
https://doi.org/10.1016/..
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3
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L..:
Cordova, Ineke
;
Blesson, Alyssa
;
Savatt, Juliann M.
...
Genes. 15 (2024) 4 - p. 423 , 2024
Link:
https://doi.org/10.3390/..
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4
The Brain Gene Registry: a data snapshot:
Baldridge, Dustin
;
Kaster, Levi
;
Sancimino, Catherine
...
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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5
MSL2 variants lead to a neurodevelopmental syndrome with la..:
Karayol, Remzi
;
Borroto, Maria Carla
;
Haghshenas, Sadegheh
...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1330-1351 , 2024
Link:
https://doi.org/10.1016/..
?
6
Response to van Riel et al:
Savatt, Juliann M.
;
Oetjens, Matthew T.
;
Myers, Scott M.
.
Genetics in Medicine. 25 (2023) 1 - p. 161-163 , 2023
Link:
https://doi.org/10.1016/..
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7
Low adenoma burden in unselected patients with a pathogenic..:
Schwiter, Rachel
;
Rocha, Heather
;
Johns, Alicia
...
Genetics in Medicine. 25 (2023) 12 - p. 100949 , 2023
Link:
https://doi.org/10.1016/..
?
8
De novo variants of CSNK2B cause a new intellectual disabil..:
Asif, Maria
;
Kaygusuz, Emrah
;
Shinawi, Marwan
...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100111 , 2022
Link:
https://doi.org/10.1016/..
?
9
Observational study of population genomic screening for var..:
Savatt, Juliann M.
;
Ortiz, Nicole M.
;
Thone, Gretchen M.
...
BMC Medicine. 20 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
10
Clinical validation of genomic functional screen data: Anal..:
Schiabor Barrett, Kelly M.
;
Masnick, Max
;
Hatchell, Kathryn E.
...
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100086 , 2022
Link:
https://doi.org/10.1016/..
?
11
Clinical validity assessment of genes frequently tested on ..:
Riggs, Erin Rooney
;
Bingaman, Taylor I.
;
Barry, Carrie-Ann
...
Genetics in Medicine. 24 (2022) 9 - p. 1899-1908 , 2022
Link:
https://doi.org/10.1016/..
?
12
Frequency of truncating FLCN variants and Birt-Hogg-Dubé–as..:
Savatt, Juliann M.
;
Shimelis, Hermela
;
Moreno-De-Luca, Andres
...
Genetics in Medicine. 24 (2022) 9 - p. 1857-1866 , 2022
Link:
https://doi.org/10.1016/..
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13
A RE-AIM Framework Analysis of DNA-Based Population Screeni..:
Jones, Laney K.
;
Strande, Natasha T.
;
Calvo, Evan M.
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
14
Experience Completing Population Screening for Variants Ass..:
Savatt, Juliann M
;
Deckard, Nicole M
;
Thone, Gretchen
...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A502-A502 , 2021
Link:
https://doi.org/10.1210/..
?
15
Recontacting registry participants with genetic updates thr..:
Savatt, Juliann M.
;
Azzariti, Danielle R.
;
Ledbetter, David H.
...
Genetics in Medicine. 23 (2021) 9 - p. 1738-1745 , 2021
Link:
https://doi.org/10.1038/..
1-15