Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2032555

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs2032555

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs2032555

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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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: MYOC: 730+35G>A; rs2032555

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2032555

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: MYOC: 730+35G>A; rs2032555

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: MYOC: 730+35G>A; rs2032555

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MYOC: 730+35G>A; rs2032555

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs2032555

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2032555

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2032555

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.

Molecular Vision

Mimivati, Z Z; Nurliza, K K; Marini, M M; Liza-Sharmini, At A

Publication Date: 2014

Variant appearance in text: rs2032555

PubMed Link: 24883016

Variant Present in the following documents:

• Main text
• mv-v20-714.pdf

View BVdb publication page

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Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Molecular Vision

Kim, Hee-Jung HJ; Suh, Wool W; Park, Sung Chul SC; Kim, Chan Yun CY; Park, Ki Ho KH; Kook, Michael S MS; Kim, Yong Yeon YY; Kim, Chang-Sik CS; Park, Chan Kee CK; Ki, Chang-Seok CS; Kee, Changwon C

Publication Date: 2011

Variant appearance in text: MYOC: 730+35G>A; rs2032555

PubMed Link: 21850185

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin mutations in black South Africans with POAG.

Molecular Vision

Whigham, Benjamin T BT; Williams, Susan E I SE; Liu, Yutao Y; Rautenbach, Robyn M RM; Carmichael, Trevor R TR; Wheeler, Joshua J; Ziskind, Ari A; Qin, Xuejun X; Schmidt, Silke S; Ramsay, Michele M; Hauser, Michael A MA; Allingham, R Rand RR

Publication Date: 2011-04-27

Variant appearance in text: rs2032555

PubMed Link: 21552496

Variant Present in the following documents:

• Main text
• mv-v17-1064.pdf

View BVdb publication page

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Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.

Molecular Vision

Pandaranayaka, P J Eswari PJ; Prasanthi, N N; Kannabiran, N N; Rangachari, K K; Dhivya, M M; Krishnadas, Subbiah R SR; Sundaresan, P P; Krishnaswamy, S S

Publication Date: 2010-12-29

Variant appearance in text: rs2032555

PubMed Link: 21203411

Variant Present in the following documents:

• Main text
• mv-v16-2891.pdf

View BVdb publication page

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Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

Clinical Genetics

Hildebrand, M S MS; Thorne, N P NP; Bromhead, C J CJ; Kahrizi, K K; Webster, J A JA; Fattahi, Z Z; Bataejad, M M; Kimberling, W J WJ; Stephan, D D; Najmabadi, H H; Bahlo, M M; Smith, R J H RJ

Publication Date: 2010-06

Variant appearance in text: rs2032555

PubMed Link: 20132242

Variant Present in the following documents:

• Main text

View BVdb publication page

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Myocilin polymorphisms and high myopia in subjects of European origin.

Molecular Vision

Zayats, Tetyana T; Yanovitch, Tammy T; Creer, Rosalind C RC; McMahon, George G; Li, Yi-Ju YJ; Young, Terri L TL; Guggenheim, Jeremy A JA

Publication Date: 2009

Variant appearance in text: rs2032555

PubMed Link: 19180258

Variant Present in the following documents:

• Main text
• mv-v15-213.pdf

View BVdb publication page

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Contributions of MYOC and CYP1B1 mutations to JOAG.

Molecular Vision

Bayat, Behnaz B; Yazdani, Shahin S; Alavi, Afagh A; Chiani, Mohsen M; Chitsazian, Fereshteh F; Tusi, Betsabeh Khoramian BK; Suri, Fatemeh F; Narooie-Nejhad, Mehrnaz M; Sanati, Mohammad H MH; Elahi, Elahe E

Publication Date: 2008-03-13

Variant appearance in text: rs2032555

PubMed Link: 18385784

Variant Present in the following documents:

• Main text

View BVdb publication page

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