Publications:

---

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.

Ebiomedicine

Jikuya, Ryosuke R; Johnson, Todd A TA; Maejima, Kazuhiro K; An, Jisong J; Ju, Young-Seok YS; Lee, Hwajin H; Ha, Kyungsik K; Song, WooJeung W; Kim, Youngwook Y; Okawa, Yuki Y; Sasagawa, Shota S; Kanazashi, Yuki Y; Fujita, Masashi M; Imoto, Seiya S; Mitome, Taku T; Ohtake, Shinji S; Noguchi, Go G; Kawaura, Sachi S; Iribe, Yasuhiro Y; Aomori, Kota K; Tatenuma, Tomoyuki T; Komeya, Mitsuru M; Ito, Hiroki H; Ito, Yusuke Y; Muraoka, Kentaro K; Furuya, Mitsuko M; Kato, Ikuma I; Fujii, Satoshi S; Hamanoue, Haruka H; Tamura, Tomohiko T; Baba, Masaya M; Suda, Toshio T; Kodama, Tatsuhiko T; Makiyama, Kazuhide K; Yao, Masahiro M; Shuch, Brian M BM; Ricketts, Christopher J CJ; Schmidt, Laura S LS; Linehan, W Marston WM; Nakagawa, Hidewaki H; Hasumi, Hisashi H

Publication Date: 2023-05-12

Variant appearance in text: TG: 7364G>A; Arg2455His

PubMed Link: 37182269

Variant Present in the following documents:

• mmc4.xlsx, sheet 8

View BVdb publication page

---

HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 7364G>A

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: TG: 7364G>A; Arg2455His

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

---

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.

International Journal Of Molecular Sciences

Li, Menglin M; Li, Zhuo Z; Chen, Miaomiao M; Hu, Zhiqing Z; Zhou, Miaojin M; Wu, Lingqian L; Zhang, Chunhua C; Liang, Desheng D

Publication Date: 2023-01-02

Variant appearance in text: TG: R2455H

PubMed Link: 36614229

Variant Present in the following documents:

• ijms-24-00786.pdf

View BVdb publication page

---

Identification of potential causal variants for premature ovarian failure by whole exome sequencing.

Bmc Medical Genomics

Jin, Haengun H; Ahn, JuWon J; Park, YoungJoon Y; Sim, JeongMin J; Park, Han Sung HS; Ryu, Chang Soo CS; Kim, Nam Keun NK; Kwack, KyuBum K

Publication Date: 2020-10-27

Variant appearance in text: TG: 7364G>A; Arg2455His; rs2272707

PubMed Link: 33109206

Variant Present in the following documents:

• Main text
• 12920_2020_Article_813.pdf

View BVdb publication page

---

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: TG: 7364G>A; R2455H

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.

Frontiers In Genetics

Yu, Bin B; Long, Wei W; Yang, Yuqi Y; Wang, Ying Y; Jiang, Lihua L; Cai, Zhengmao Z; Wang, Huaiyan H

Publication Date: 2018

Variant appearance in text: TG: 7364G>A; R2455H; rs2272707

PubMed Link: 30420871

Variant Present in the following documents:

• Main text
• fgene-09-00509.pdf

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: AITD3: R2455H; rs2272707

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TG: R2455H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---