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Yamoto, Kaori
23  results:
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1

Pathogenic sequence variant and microdeletion affecting HMG..:

Yamoto, Kaori ; Saitsu, Hirotomo ; Ohkubo, Yumiko..
Clinical Epigenetics.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

TBX5 pathogenic variant in a patient with congenital heart ..:

Yamoto, Kaori ; Kato, Fumiko ; Yamoto, Masaya...
Congenital Anomalies.  64 (2023)  1 - p. 23-27 , 2023
Link: https://doi.org/10.1111/..
 
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3

A novel intronic PORCN variant creating an alternative spli..:

Yamoto, Kaori ; Okada, Satoshi ; Kato, Fumiko...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1612-1617 , 2022
Link: https://doi.org/10.1002/..
 
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4

Characterization of KMT2A::MATR3 fusion in a patient with a..:

Komatsu, Kazuyuki ; Sakaguchi, Kimiyoshi ; Shimizu, Daisuke...
Pediatric Blood & Cancer.  70 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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5

PORCN‐related microphthalmia with limb anomalies: Case repo..:

Fukahori, Kyoko ; Yamoto, Kaori ; Saitsu, Hirotomo..
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 636-639 , 2022
Link: https://doi.org/10.1002/..
 
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6

Genetic and phenotypic analysis of 101 patients with develo..:

Hiraide, Takuya ; Yamoto, Kaori ; Masunaga, Yohei...
Clinical Genetics.  100 (2021)  1 - p. 40-50 , 2021
Link: https://doi.org/10.1111/..
 
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7

Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)..:

Yamoto, Kaori ; Saitsu, Hirotomo ; Fujisawa, Yasuko...
Clinical Case Reports.  8 (2020)  6 - p. 1076-1080 , 2020
Link: https://doi.org/10.1002/..
 
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8

Exome reports A de novo GNB2 variant associated with global..:

Fukuda, Tokiko ; Hiraide, Takuya ; Yamoto, Kaori...
European Journal of Medical Genetics.  63 (2020)  4 - p. 103804 , 2020
Link: https://doi.org/10.1016/..
 
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9

De novo AFF3 variant in a patient with mesomelic dysplasia ..:

Shimizu, Daisuke ; Sakamoto, Rieko ; Yamoto, Kaori...
Journal of Human Genetics.  64 (2019)  10 - p. 1041-1044 , 2019
Link: https://doi.org/10.1038/..
 
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10

Comprehensive clinical and molecular studies in split-hand/..:

Yamoto, Kaori ; Saitsu, Hirotomo ; Nishimura, Gen...
European Journal of Human Genetics.  27 (2019)  12 - p. 1845-1857 , 2019
Link: https://doi.org/10.1038/..
 
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11

Identification of de novo CSNK2A1 and CSNK2B variants in ca..:

Nakashima, Mitsuko ; Tohyama, Jun ; Nakagawa, Eiji...
Journal of Human Genetics.  64 (2019)  4 - p. 313-322 , 2019
Link: https://doi.org/10.1038/..
 
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12

De novo ZBTB7A variant in a patient with macrocephaly, inte..:

Ohishi, Akira ; Masunaga, Yohei ; Iijima, Shigeo...
Journal of Human Genetics.  65 (2019)  2 - p. 181-186 , 2019
Link: https://doi.org/10.1038/..
 
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13

IGF2 Mutations:

Masunaga, Yohei ; Inoue, Takanobu ; Yamoto, Kaori...
The Journal of Clinical Endocrinology & Metabolism.  105 (2019)  1 - p. 116-125 , 2019
Link: https://doi.org/10.1210/..
 
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14

De novo variants in SETD1B are associated with intellectual..:

Hiraide, Takuya ; Nakashima, Mitsuko ; Yamoto, Kaori...
Human Genetics.  137 (2018)  1 - p. 95-104 , 2018
Link: https://doi.org/10.1007/..
 
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15

FGFR1 disruption identified by whole genome sequencing in a..:

Yamoto, Kaori ; Okamoto, Shingo ; Fujisawa, Yasuko...
American Journal of Medical Genetics Part A.  176 (2017)  1 - p. 139-143 , 2017
Link: https://doi.org/10.1002/..
 
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