Publications:

---

First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.

Bmc Medical Genomics

Wang, Yao Y; Yu, Dong D; Wei, Wei W; Zheng, Hao H; Liu, Ming-Hua MH; Ma, Long L; Qin, Li-Na LN; Wang, Neng-Zhuang NZ; Li, Jia-Xi JX; Wang, Jin-Jiang JJ; Bi, Xin-Ling XL; Yan, Hong-Li HL

Publication Date: 2022-06-18

Variant appearance in text: N/A

PubMed Link: 35717189

Variant Present in the following documents:

View BVdb publication page

---

Phase II trial of nivolumab monotherapy and biomarker screening in patients with chemo-refractory germ cell tumors.

International Journal Of Urology : Official Journal Of The Japanese Urological Association

Kawahara, Takashi T; Kawai, Koji K; Kojima, Takahiro T; Nagumo, Yoshiyuki Y; Sakka, Shotarou S; Kandori, Shuya S; Negoro, Hiromitsu H; Mathis, Bryan J BJ; Maruo, Kazushi K; Miura, Koji K; Sakamoto, Noriaki N; Shinohara, Nobuo N; Yamashita, Shinichi S; Yonemori, Kan K; Kishida, Takeshi T; Ukimura, Osamu O; Nishimura, Kazuo K; Kobayashi, Yasuyuki Y; Nishiyama, Hiroyuki H

Publication Date: 2022-07

Variant appearance in text: KMT2C: Tyr987*

PubMed Link: 35462438

Variant Present in the following documents:

• IJU-29-741-s001.xlsx, sheet 1

View BVdb publication page

---

Molecular Landscape for Malignant Transformation in Diffuse Astrocytoma.

Global Medical Genetics

Tunthanathip, Thara T; Sangkhathat, Surasak S; Kanjanapradit, Kanet K

Publication Date: 2021-09

Variant appearance in text: rs58528565

PubMed Link: 34430964

Variant Present in the following documents:

• Main text
• 10-1055-s-0041-1731069.pdf

View BVdb publication page

---

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: N/A

PubMed Link: 34001105

Variant Present in the following documents:

View BVdb publication page

---

Genomic Profiling Identified ERCC2 E606Q Mutation in Helicase Domain Respond to Platinum-Based Neoadjuvant Therapy in Urothelial Bladder Cancer.

Frontiers In Oncology

Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2020

Variant appearance in text: KMT2C: Y987*

PubMed Link: 32984035

Variant Present in the following documents:

• Main text
• fonc-10-01643.pdf

View BVdb publication page

---

Genomic profile of urine has high diagnostic sensitivity compared to cytology in non-invasive urothelial bladder cancer.

Cancer Science

Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Daimon, Hironori H; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2019-10

Variant appearance in text: KMT2C: Y987*

PubMed Link: 31368627

Variant Present in the following documents:

• CAS-110-3235.pdf

View BVdb publication page

---

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.

Frontiers In Genetics

Kiselev, Artem A; Vaz, Raquel R; Knyazeva, Anastasia A; Sergushichev, Alexey A; Dmitrieva, Renata R; Khudiakov, Aleksandr A; Jorholt, John J; Smolina, Natalia N; Sukhareva, Ksenia K; Fomicheva, Yulia Y; Mikhaylov, Evgeny E; Mitrofanova, Lubov L; Predeus, Alexander A; Sjoberg, Gunnar G; Rudenko, Dmitriy D; Sejersen, Thomas T; Lindstrand, Anna A; Kostareva, Anna A

Publication Date: 2019

Variant appearance in text: N/A

PubMed Link: 31297131

Variant Present in the following documents:

View BVdb publication page

---

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One

Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 26670335

Variant Present in the following documents:

View BVdb publication page

---