Publications:

---

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs41258054

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: HRAS: 111+15G>A; rs41258054

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Pathogenesis and characteristics of large ameloblastoma of the jaw: a report of two rare cases.

The Journal Of International Medical Research

Qiao, Xue X; Niu, Xing X; Liu, Jiayi J; Chen, Lijie L; Guo, Yan Y; Zhong, Ming M

Publication Date: 2021-05

Variant appearance in text: rs41258054

PubMed Link: 34034548

Variant Present in the following documents:

• Main text
• 10.1177_03000605211014803.pdf

View BVdb publication page

---

Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences

Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK

Publication Date: 2021-04-09

Variant appearance in text: HRAS: 111+15G>A

PubMed Link: 33918692

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: HRAS: 111+15G>A

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: HRAS: 111+15G>A

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

---

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: HRAS: 111+15G>A; rs41258054

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: HRAS: 111+15G>A; rs41258054

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs41258054

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

---

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

American Journal Of Medical Genetics. Part A

Gripp, Karen W KW; Sol-Church, Katia K; Smpokou, Patroula P; Graham, Gail E GE; Stevenson, David A DA; Hanson, Heather H; Viskochil, David H DH; Baker, Laura C LC; Russo, Bridget B; Gardner, Nick N; Stabley, Deborah L DL; Kolbe, Verena V; Rosenberger, Georg G

Publication Date: 2015-09

Variant appearance in text: rs41258054

PubMed Link: 25914166

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs41258054

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

Tumor evolution and progression in multifocal and paired non-invasive/invasive urothelial carcinoma.

Virchows Archiv : An International Journal Of Pathology

Warrick, Joshua I JI; Hovelson, Daniel H DH; Amin, Anmol A; Liu, Chia-Jen CJ; Cani, Andi K AK; McDaniel, Andrew S AS; Yadati, Venkata V; Quist, Michael J MJ; Weizer, Alon Z AZ; Brenner, J Chad JC; Feng, Felix Y FY; Mehra, Rohit R; Grasso, Catherine S CS; Tomlins, Scott A SA

Publication Date: 2015-03

Variant appearance in text: rs41258054

PubMed Link: 25502898

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease.

Pediatric And Developmental Pathology : The Official Journal Of The Society For Pediatric Pathology And The Paediatric Pathology Society

Weaver, K Nicole KN; Wang, Dehua D; Cnota, James J; Gardner, Nicholas N; Stabley, Deborah D; Sol-Church, Katia K; Gripp, Karen W KW; Witte, David P DP; Bove, Kevin E KE; Hopkin, Robert J RJ

Publication Date: 2014

Variant appearance in text: HRAS: 111+15G>A; rs41258054

PubMed Link: 25133308

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.

The Journal Of Investigative Dermatology

Levinsohn, Jonathan L JL; Tian, Li C LC; Boyden, Lynn M LM; McNiff, Jennifer M JM; Narayan, Deepak D; Loring, Erin S ES; Yun, Duri D; Sugarman, Jeffrey L JL; Overton, John D JD; Mane, Shrikant M SM; Lifton, Richard P RP; Paller, Amy S AS; Wagner, Annette M AM; Antaya, Richard J RJ; Choate, Keith A KA

Publication Date: 2013-03

Variant appearance in text: rs41258054

PubMed Link: 23096712

Variant Present in the following documents:

• NIHMS407008-supplement-supplement_1.pdf

View BVdb publication page

---

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One

Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D

Publication Date: 2012

Variant appearance in text: HRAS: 111+15G>A

PubMed Link: 22558107

Variant Present in the following documents:

• pone.0035003.s004.pdf

View BVdb publication page

---

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

American Journal Of Medical Genetics. Part A

Gripp, Karen W KW; Hopkins, Elizabeth E; Serrano, Alvaro A; Leonard, Norma J NJ; Stabley, Deborah L DL; Sol-Church, Katia K

Publication Date: 2012-05

Variant appearance in text: rs41258054

PubMed Link: 22488832

Variant Present in the following documents:

• Main text

View BVdb publication page

---