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: rs2364403

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2364403

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

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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: ARHGEF2: 1546-79C>T; rs2364403

PubMed Link: 33503336

Variant Present in the following documents:

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

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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: ARHGEF2: 1546-79C>T; rs2364403

PubMed Link: 30319441

Variant Present in the following documents:

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

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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: rs2364403

PubMed Link: 26549847

Variant Present in the following documents:

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

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Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Neurobiology Of Aging

Ahmeti, Kreshnik B KB; Ajroud-Driss, Senda S; Al-Chalabi, Ammar A; Andersen, Peter M PM; Armstrong, Jennifer J; Birve, Anne A; Blauw, Hylke M HM; Brown, Robert H RH; Bruijn, Lucie L; Chen, Wenjie W; Chio, Adriano A; Comeau, Mary C MC; Cronin, Simon S; Diekstra, Frank P FP; Soraya Gkazi, Athina A; Glass, Jonathan D JD; Grab, Josh D JD; Groen, Ewout J EJ; Haines, Jonathan L JL; Hardiman, Orla O; Heller, Scott S; Huang, Jie J; Hung, Wu-Yen WY; , ; Jaworski, James M JM; Jones, Ashley A; Khan, Humaira H; Landers, John E JE; Langefeld, Carl D CD; Leigh, P Nigel PN; Marion, Miranda C MC; McLaughlin, Russell L RL; Meininger, Vincent V; Melki, Judith J; Miller, Jack W JW; Mora, Gabriele G; Pericak-Vance, Margaret A MA; Rampersaud, Evadnie E; Robberecht, Wim W; Russell, Laurie P LP; Salachas, Francois F; Saris, Christiaan G CG; Shatunov, Aleksey A; Shaw, Christopher E CE; Siddique, Nailah N; Siddique, Teepu T; Smith, Bradley N BN; Sufit, Robert R; Topp, Simon S; Traynor, Bryan J BJ; Vance, Caroline C; van Damme, Philip P; van den Berg, Leonard H LH; van Es, Michael A MA; van Vught, Paul W PW; Veldink, Jan H JH; Yang, Yi Y; Zheng, J G JG; ,

Publication Date: 2013-01

Variant appearance in text: rs2364403

PubMed Link: 22959728

Variant Present in the following documents:

• Main text

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