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Dipple, Katrina
104  results:
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1

P487: Increasing access to precise genetic diagnoses for in..:

Scott, Abbey ; Kruidenier, Lukas ; Sikes, Megan...
Genetics in Medicine Open.  2 (2024)  - p. 101386 , 2024
Link: https://doi.org/10.1016/..
 
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2

P194: SeqFirst mitigates race-based disparities in access t..:

Wenger, Tara ; Keefe, Alexandra ; Kruidenier, Lukas...
Genetics in Medicine Open.  2 (2024)  - p. 101091 , 2024
Link: https://doi.org/10.1016/..
 
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3

P193: Inpatient genetics consults for nondysmorphic childre..:

Keefe, Alexandra ; Scott, Abbey ; Kruidenier, Lukas...
Genetics in Medicine Open.  2 (2024)  - p. 101090 , 2024
Link: https://doi.org/10.1016/..
 
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4

P214: SeqFirst DDi: Early whole genome sequencing improves ..:

Dipple, Katrina ; Doherty, Daniel ; Anderson, Kailyn...
Genetics in Medicine Open.  2 (2024)  - p. 101111 , 2024
Link: https://doi.org/10.1016/..
 
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5

P208: SeqFirst: Impact of a precise genetic diagnosis on en..:

Keefe, Alexandra ; Wenger, Tara ; Yu, Joon-Ho...
Genetics in Medicine Open.  1 (2023)  1 - p. 100236 , 2023
Link: https://doi.org/10.1016/..
 
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6

P414: SeqFirst: Parental perspectives on receiving results ..:

Wenger, Tara ; Keefe, Alexandra ; Sikes, Megan...
Genetics in Medicine Open.  1 (2023)  1 - p. 100450 , 2023
Link: https://doi.org/10.1016/..
 
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7

P099: Mosaic variant in RHOA in an adolescent with a multis..:

Allworth, Aimee ; Glass, Ian ; Hing, Anne...
Genetics in Medicine Open.  1 (2023)  1 - p. 100128 , 2023
Link: https://doi.org/10.1016/..
 
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8

The contribution of mosaicism to genetic diseases and de no..:

Tinker, Rory J. ; Bastarache, Lisa ; Ezell, Kimberly...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2482-2492 , 2023
Link: https://doi.org/10.1002/..
 
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9

eP281: SeqFirst-neo: Improving access equity for a precise ..:

Wenger, Tara ; Scott, Abbey ; Sikes, Megan...
Genetics in Medicine.  24 (2022)  3 - p. S178 , 2022
Link: https://doi.org/10.1016/..
 
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10

Improving Genetic Testing Protocols as a Way to Assist Grie..:

Ragsdale, Lindsay ; Osborne, Thai ; Ramsdell, Linda.
Journal of Pain and Symptom Management.  59 (2020)  2 - p. 500 , 2020
Link: https://doi.org/10.1016/..
 
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11

Is it time to retire fragile X testing as a first-tier test..:

Mullegama, Sureni V ; Klein, Steven D ; Nguyen, Dzung C...
Genetics in Medicine.  19 (2017)  12 - p. 1380-1381 , 2017
Link: https://doi.org/10.1038/..
 
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12

Addendum to "Carnitine membrane transporter deficiency: a l..:

Cederbaum, Stephen D. ; Koo-McCoy, Samantha ; Tein, Ingrid...
Molecular Genetics and Metabolism.  78 (2003)  1 - p. 82 , 2003
Link: https://doi.org/10.1016/..
 
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13

Carnitine membrane transporter deficiency: a long-term foll..:

Cederbaum, Stephen D ; Koo-McCoy, Samantha ; Tein, Ingrid...
Molecular Genetics and Metabolism.  77 (2002)  3 - p. 195-201 , 2002
Link: https://doi.org/10.1016/..
 
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14

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1240 , 2024
Link: https://doi.org/10.1016/..
 
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15

De novo missense variants in exon 9 of SEPHS1 cause a neuro..:

Mullegama, Sureni V. ; Kiernan, Kaitlyn A. ; Torti, Erin...
The American Journal of Human Genetics.  111 (2024)  4 - p. 778-790 , 2024
Link: https://doi.org/10.1016/..
 
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