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Juusola, Jane
190  results:
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1

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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2

P149: Exome sequencing vs chromosomal microarray for copy n..:

McWalter, Kirsty ; Douglas, Ganka ; Lindy, Amanda..
Genetics in Medicine Open.  2 (2024)  - p. 101046 , 2024
Link: https://doi.org/10.1016/..
 
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3

P245: Oldest reported patients with RAB18 deficiency due to..:

Niyazov, Dmitriy ; Juusola, Jane
Genetics in Medicine Open.  2 (2024)  - p. 101141 , 2024
Link: https://doi.org/10.1016/..
 
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4

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko...
Human Genetics and Genomics Advances.  5 (2024)  2 - p. 100273 , 2024
Link: https://doi.org/10.1016/..
 
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5

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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6

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100168 , 2023
Link: https://doi.org/10.1016/..
 
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7

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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8

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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9

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances.  3 (2022)  3 - p. 100102 , 2022
Link: https://doi.org/10.1016/..
 
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10

Impaired neurogenesis alters brain biomechanics in a neurop..:

Duy, Phan Q. ; Weise, Stefan C. ; Marini, Claudia...
Nature Neuroscience.  25 (2022)  4 - p. 458-473 , 2022
Link: https://doi.org/10.1038/..
 
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11

FIBCD1is an endocyticGAGreceptor associated with a novel ne..:

Fell, Christopher W ; Hagelkruys, Astrid ; Cicvaric, Ana...
EMBO Molecular Medicine.  14 (2022)  9 - p. , 2022
Link: https://doi.org/10.15252..
 
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12

Phenotypic continuum between POLE‐related recessive disorde..:

Roberts, Maegan E. ; Nimrichter, Sarah ; Marshall, Megan L....
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 3121-3125 , 2022
Link: https://doi.org/10.1002/..
 
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13

Functionally impairedRPL8variants associated with Diamond–B..:

Lebaron, Simon ; O'Donohue, Marie‐Françoise ; Smith, Scott C....
Human Mutation.  43 (2022)  3 - p. 389-402 , 2022
Link: https://doi.org/10.1002/..
 
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14

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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15

Heterozygous variants in MYH10 associated with neurodevelop..:

Holtz, Alexander M. ; VanCoillie, Rachel ; Vansickle, Elizabeth A....
Genetics in Medicine.  24 (2022)  10 - p. 2065-2078 , 2022
Link: https://doi.org/10.1016/..
 
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