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Saunders, Carol D.
254
results:
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1
O10: Exome-based integrated CNV/SNV analysis as a superior ..:
Saunders, Carol
;
Alaimo, Joseph
;
Del Viso, Florencia
...
Genetics in Medicine Open. 2 (2024) - p. 101014 , 2024
Link:
https://doi.org/10.1016/..
?
2
P301: Pathogenic NOTCH1 variation displays a spectrum of ca..:
Alaimo, Joseph
;
Del Viso, Florencia
;
Cohen, Ana S.A.
...
Genetics in Medicine Open. 2 (2024) - p. 101197 , 2024
Link:
https://doi.org/10.1016/..
?
3
O24: Unveiling the power of HiFi genome sequencing: One tes..:
Farrow, Emily
;
Saunders, Carol
;
Gibson, Margaret
...
Genetics in Medicine Open. 2 (2024) - p. 101471 , 2024
Link:
https://doi.org/10.1016/..
?
4
P225: Efficacy of NGS testing for pediatric endocrine relat..:
Alaimo, Joseph
;
Del Viso, Florencia
;
Paolillo, Vitoria
...
Genetics in Medicine Open. 2 (2024) - p. 101122 , 2024
Link:
https://doi.org/10.1016/..
?
5
More Than a Decade of Rapid Genomic Sequencing: Where Are W..:
Saunders, Carol J
;
Brunelli, Luca
;
Deem, Michael J
...
Clinical Chemistry. 70 (2024) 4 - p. 577-583 , 2024
Link:
https://doi.org/10.1093/..
?
6
Pseudo-Dystonia and Marked Intrafamilial Variability in CAD..:
Coffman, Keith
;
Engleman, Kendra
;
Shaffer, Elizabeth
..
Pediatric Neurology. 144 (2023) - p. 78-79 , 2023
Link:
https://doi.org/10.1016/..
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7
P551: GATEways to improved test utilization: Opening doors ..:
Zellmer, Lee
;
Rindler, Mary
;
Humphrey, Maggie
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100598 , 2023
Link:
https://doi.org/10.1016/..
?
8
Non-ownership business models in the manufacturing industry..:
Bock, Maximilian
;
Wiener, Martin
;
Saunders, Carol
Electronic Markets. 33 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1007/..
?
9
LHX2 haploinsufficiency causes a variable neurodevelopmenta..:
Schmid, Cosima M.
;
Gregor, Anne
;
Costain, Gregory
...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023
Link:
https://doi.org/10.1016/..
?
10
POLR1A variants underlie phenotypic heterogeneity in cranio..:
Smallwood, Kelly
;
Watt, Kristin E.N.
;
Ide, Satoru
...
The American Journal of Human Genetics. 110 (2023) 5 - p. 809-825 , 2023
Link:
https://doi.org/10.1016/..
?
11
Novel blended SNRPE‐related spliceosomopathy phenotype char..:
Amudhavalli, Shivarajan M.
;
Paolillo, V.
;
Lawson, Caitlin
...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1425-1429 , 2023
Link:
https://doi.org/10.1002/..
?
12
P571: Expanding the genetic and phenotypic spectrum of cohe..:
Thiffault, Isabelle
;
Alaimo, Joseph
;
Paolillo, Vitoria
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100618 , 2023
Link:
https://doi.org/10.1016/..
?
13
P448: SF3B2-Related cardiac defects and Hirschsprung diseas..:
Del Viso, Florencia
;
Zhou, Dihong
;
Starling, Susan
..
Genetics in Medicine Open. 1 (2023) 1 - p. 100495 , 2023
Link:
https://doi.org/10.1016/..
?
14
Recurrent FOXP4 nonsense variant in two unrelated patients:..:
Del Viso, Florencia
;
Zhou, Dihong
;
Thiffault, Isabelle
...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 259-264 , 2022
Link:
https://doi.org/10.1002/..
?
15
eP186: Novel SNRPE-related spliceosomopathy characterized b..:
Amudhavalli, Shivarajan Manickavasagam
;
Lawson, Caitlin
;
Paolillo, Vitoria
...
Genetics in Medicine. 24 (2022) 3 - p. S115 , 2022
Link:
https://doi.org/10.1016/..
1-15