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: rs12926008

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: rs12926008

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 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: rs12926008

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: CCNF: 594+87T>C; rs12926008

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: CCNF: 594+87T>C; rs12926008

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

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: CCNF: 594+87T>C; rs12926008

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurologica Belgica

Ungaro, Carmine C; Citrigno, Luigi L; Trojsi, Francesca F; Sprovieri, Teresa T; Gentile, Giulia G; Muglia, Maria M; Monsurrò, Maria Rosaria MR; Tedeschi, Gioacchino G; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL

Publication Date: 2018-12

Variant appearance in text: rs12926008

PubMed Link: 30317490

Variant Present in the following documents:

• 13760_2018_1029_MOESM3_ESM.pdf

View BVdb publication page

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Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Journal Of The National Cancer Institute

Qian, Frank F; Wang, Shengfeng S; Mitchell, Jonathan J; McGuffog, Lesley L; Barrowdale, Daniel D; Leslie, Goska G; Oosterwijk, Jan C JC; Chung, Wendy K WK; Evans, D Gareth DG; Engel, Christoph C; Kast, Karin K; Aalfs, Cora M CM; Adank, Muriel A MA; Adlard, Julian J; Agnarsson, Bjarni A BA; Aittomäki, Kristiina K; Alducci, Elisa E; Andrulis, Irene L IL; Arun, Banu K BK; Ausems, Margreet G E M MGEM; Azzollini, Jacopo J; Barouk-Simonet, Emmanuelle E; Barwell, Julian J; Belotti, Muriel M; Benitez, Javier J; Berger, Andreas A; Borg, Ake A; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caldes, Trinidad T; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Claes, Kathleen B M KBM; Margriet Collée, J J; Couch, Fergus J FJ; Coupier, Isabelle I; Daly, Mary B MB; Davidson, Rosemarie R; Diez, Orland O; Domchek, Susan M SM; Donaldson, Alan A; Dorfling, Cecilia M CM; Eeles, Ros R; Feliubadaló, Lidia L; Foretova, Lenka L; Fowler, Jeffrey J; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Garcia-Barberan, Vanesa V; Glendon, Gord G; Godwin, Andrew K AK; Gómez Garcia, Encarna B EB; Gronwald, Jacek J; Hahnen, Eric E; Hamann, Ute U; Henderson, Alex A; Hendricks, Carolyn B CB; Hopper, John L JL; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Ángel Á; Jakubowska, Anna A; Kaczmarek, Katarzyna K; Kang, Eunyoung E; Karlan, Beth Y BY; Kets, Carolien M CM; Kim, Sung-Won SW; Kim, Zisun Z; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Hyuk Lee, Min M; Won Lee, Jong J; Lee, Jihyoun J; Lester, Jenny J; Lesueur, Fabienne F; Loud, Jennifer T JT; Lubinski, Jan J; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Mooij, Thea M TM; Morrison, Patrick J PJ; Mouret-Fourme, Emmanuelle E; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nielsen, Finn C FC; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Ong, Kai-Ren KR; Ottini, Laura L; Park, Sue K SK; Peterlongo, Paolo P; Pfeiler, Georg G; Phelan, Catherine M CM; Poppe, Bruce B; Pradhan, Nisha N; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Robson, Mark M; Rodriguez, Gustavo C GC; Schmutzler, Rita K RK; Hutten Selkirk, Christina G CG; Shah, Payal D PD; Simard, Jacques J; Singer, Christian F CF; Sokolowska, Johanna J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Yen Tan, Yen Y; Teixeira, R Manuel RM; Teo, Soo H SH; Terry, Mary Beth MB; Thomassen, Mads M; Tischkowitz, Marc M; Toland, Amanda E AE; Tucker, Katherine M KM; Tung, Nadine N; van Asperen, Christi J CJ; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Yannoukakos, Drakoulis D; , ; , ; , ; Greene, Mark H MH; Rookus, Matti A MA; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Goldgar, David E DE; Olopade, Olufunmilayo I OI; Rebbeck, Timothy R TR; Huo, Dezheng D

Publication Date: 2019-04-01

Variant appearance in text: rs12926008

PubMed Link: 30312457

Variant Present in the following documents:

• Main text

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: rs12926008

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: rs12926008

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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