Publications:

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: rs945960

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs945960

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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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: rs945960

PubMed Link: 36075891

Variant Present in the following documents:

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

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs945960

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM11_ESM.xlsx, sheet 1

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Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke.

Plos One

Cole, John W JW; Xu, Huichun H; Ryan, Kathleen K; Jaworek, Thomas T; Dueker, Nicole N; McArdle, Patrick P; Gaynor, Brady B; Cheng, Yu-Ching YC; O'Connell, Jeffrey J; Bevan, Steve S; Malik, Rainer R; Ahmed, Naveed Uddin NU; Amouyel, Philippe P; Anjum, Sheraz S; Bis, Joshua C JC; Crosslin, David D; Danesh, John J; Engelter, Stefan T ST; Fornage, Myriam M; Frossard, Philippe P; Gieger, Christian C; Giese, Anne-Katrin AK; Grond-Ginsbach, Caspar C; Ho, Weang Kee WK; Holliday, Elizabeth E; Hopewell, Jemma J; Hussain, M M; Iqbal, W W; Jabeen, S S; Jannes, Jim J; Kamal, Ayeesha A; Kamatani, Yoichiro Y; Kanse, Sandip S; Kloss, Manja M; Lathrop, Mark M; Leys, Didier D; Lindgren, Arne A; Longstreth, W T WT; Mahmood, Khalid K; Meisinger, Christa C; Metso, Tiina M TM; Mosley, Thomas T; Müller-Nurasyid, Martina M; Norrving, Bo B; Parati, Eugenio E; Peters, Annette A; Pezzini, Alessandro A; Quereshi, I I; Rasheed, Asif A; Rauf, A A; Salam, T T; Shen, Jess J; Słowik, Agnieszka A; Stanne, Tara T; Strauch, Konstantin K; Tatlisumak, Turgut T; Thijs, Vincent N VN; Tiedt, Steffen S; Traylor, Matthew M; Waldenberger, Melanie M; Walters, Matthew M; Zhao, Wei W; Boncoraglio, Giorgio G; Debette, Stéphanie S; Jern, Christina C; Levi, Christopher C; Markus, Hugh H; Meschia, James J; Rolfs, Arndt A; Rothwell, Peter P; Saleheen, Danish D; Seshadri, Sudha S; Sharma, Pankaj P; Sudlow, Cathie C; Worrall, Bradford B; , ; , ; Stine, O Colin OC; Kittner, Steven J SJ; Mitchell, Braxton D BD

Publication Date: 2018

Variant appearance in text: rs945960

PubMed Link: 30383853

Variant Present in the following documents:

• Main text
• pone.0206554.pdf

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