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Tokita, Mari
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1

P339: Whole genome sequencing identifies biallelic variants..:

Lenberg, Jerica ; Wigby, Kristen ; Friedman, Jennifer...
Genetics in Medicine Open.  2 (2024)  - p. 101233 , 2024
Link: https://doi.org/10.1016/..
 
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2

P610: Identification of trinucleotide repeat expansions in ..:

Guidugli, Lucia ; Hammer, Monia ; Cao, Bryant...
Genetics in Medicine Open.  2 (2024)  - p. 101516 , 2024
Link: https://doi.org/10.1016/..
 
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3

P584: Dual diagnosis of maple syrup urine disease 1B and 6q..:

Wang, Xin (David) ; Kirsten, Kelly ; Wright, Meredith...
Genetics in Medicine Open.  1 (2023)  1 - p. 100631 , 2023
Link: https://doi.org/10.1016/..
 
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4

Insights into the perinatal phenotype of Kabuki syndrome in..:

Wigby, Kristen ; Hammer, Monia ; Tokita, Mari...
American Journal of Medical Genetics Part A.  191 (2023)  4 - p. 930-940 , 2023
Link: https://doi.org/10.1002/..
 
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5

In-frame deletion in SPOP leads to Nabais Sa-de Vries syndr..:

Ramos, Leona ; Byler, Melissa ; Gupta, Shiphali...
Molecular Genetics and Metabolism.  132 (2021)  - p. S73 , 2021
Link: https://doi.org/10.1016/..
 
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6

Abnormal SCID Newborn Screening and Spontaneous Recovery As..:

Kuehn, Hye Sun ; Gloude, Nicholas J. ; Dimmock, David...
Journal of Clinical Immunology.  41 (2021)  6 - p. 1241-1249 , 2021
Link: https://doi.org/10.1007/..
 
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7

A clinical survey of mosaic single nucleotide variants in d..:

Cao, Ye ; Tokita, Mari J. ; Chen, Edward S....
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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8

TWIST1 Heterodimerization with E12 Requires Coordinated Pro..:

Mikheeva, Svetlana A. ; Camp, Nathan D. ; Huang, Lei...
Cancers.  11 (2019)  9 - p. 1392 , 2019
Link: https://doi.org/10.3390/..
 
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9

The first reported case of an inherited pathogenic CHD2 var..:

Petersen, Andrea Klunder ; Streff, Haley ; Tokita, Mari.
American Journal of Medical Genetics Part A.  176 (2018)  7 - p. 1667-1669 , 2018
Link: https://doi.org/10.1002/..
 
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10

Twist1 mediated regulation of glioma tumorigenicity is depe..:

Mikheev, Andrei M. ; Mikheeva, Svetlana A. ; Tokita, Mari..
Oncotarget.  8 (2017)  64 - p. 107716-107729 , 2017
Link: https://doi.org/10.18632..
 
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11

The next generation of population-based spinal muscular atr..:

Feng, Yanming ; Ge, Xiaoyan ; Meng, Linyan...
Genetics in Medicine.  19 (2017)  8 - p. 936-944 , 2017
Link: https://doi.org/10.1038/..
 
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12

Werner syndrome through the lens of tissue and tumour genom..:

Tokita, Mari ; Kennedy, Scott R. ; Risques, Rosa Ana...
Scientific Reports.  6 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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13

A Founder Mutation in VPS11 Causes an Autosomal Recessive L..:

Zhang, Jinglan ; Lachance, Véronik ; Schaffner, Adam...
PLOS Genetics.  12 (2016)  4 - p. e1005848 , 2016
Link: https://doi.org/10.1371/..
 
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14

Postnatal outcomes of prenatally diagnosed 45,X/46,XX:

Tokita, Mari J. ; Sybert, Virginia P.
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1196-1201 , 2016
Link: https://doi.org/10.1002/..
 
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15

Actionable exomic incidental findings in 6503 participants:..:

Amendola, Laura M. ; Dorschner, Michael O. ; Robertson, Peggy D....
Genome Research.  25 (2015)  3 - p. 305-315 , 2015
Link: https://doi.org/10.1101/..
 
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