Publications:

---

Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.

Annals Of Medicine

Pipitprapat, Weenita W; Pattanaprateep, Oraluck O; Iemwimangsa, Nareenart N; Sensorn, Insee I; Panthan, Bhakbhoom B; Jiaranai, Poramate P; Chantratita, Wasun W; Sorapipatcharoen, Kinnaree K; Poomthavorn, Preamrudee P; Mahachoklertwattana, Pat P; Sura, Thanyachai T; Tunteeratum, Atchara A; Srichan, Kanoknan K; Sriphrapradang, Chutintorn C

Publication Date: 2021-12

Variant appearance in text: SDHD: Met1Ile

PubMed Link: 34309460

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore.

Hereditary Cancer In Clinical Practice

Ting, Kay Reen KR; Ong, Pei Yi PY; Wei, Samuel Ow Guan SOG; Parameswaran, Rajeev R; Khoo, Chin Meng CM; Deepak, Doddabele Srinivasa DS; Lee, Soo-Chin SC

Publication Date: 2020-12-11

Variant appearance in text: SDHD: 3G>C

PubMed Link: 33308260

Variant Present in the following documents:

• Main text
• 13053_2020_Article_156.pdf

View BVdb publication page

---

Head and Neck Paragangliomas-A Genetic Overview.

International Journal Of Molecular Sciences

Majewska, Anna A; Budny, Bartłomiej B; Ziemnicka, Katarzyna K; Ruchała, Marek M; Wierzbicka, Małgorzata M

Publication Date: 2020-10-16

Variant appearance in text: SDHD: 3G>C

PubMed Link: 33081307

Variant Present in the following documents:

• Main text
• ijms-21-07669.pdf

View BVdb publication page

---

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: SDHD: 3G>C

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: SDHD: 3G>C; rs80338842

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Cancers

Rijken, Johannes A JA; van Hulsteijn, Leonie T LT; Dekkers, Olaf M OM; Niemeijer, Nicolasine D ND; Leemans, C René CR; Eijkelenkamp, Karin K; van der Horst-Schrivers, Anouk N A ANA; Kerstens, Michiel N MN; van Berkel, Anouk A; Timmers, Henri J L M HJLM; Kunst, Henricus P M HPM; Bisschop, Peter H L T PHLT; Dreijerink, Koen M A KMA; van Dooren, Marieke F MF; Hes, Frederik J FJ; Jansen, Jeroen C JC; Corssmit, Eleonora P M EPM; Hensen, Erik F EF

Publication Date: 2019-01-17

Variant appearance in text: SDHD: 3G>C

PubMed Link: 30658386

Variant Present in the following documents:

• Main text
• cancers-11-00103.pdf

View BVdb publication page

---

The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHD: 3G>C

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SDHD: 3G>C; Met1Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: SDHD: M1I

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

---