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: rs5750248

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: rs5750248

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: rs5750248

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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An African perspective on the genetic risk of chronic kidney disease: a systematic review.

Bmc Medical Genetics

George, Cindy C; Yako, Yandiswa Y YY; Okpechi, Ikechi G IG; Matsha, Tandi E TE; Kaze Folefack, Francois J FJ; Kengne, Andre P AP

Publication Date: 2018-10-19

Variant appearance in text: rs5750248

PubMed Link: 30340464

Variant Present in the following documents:

• Main text
• 12881_2018_Article_702.pdf

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: MYH9: 1844-239A>G; rs5750248

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genetics of Sickle Cell-Associated Cardiovascular Disease: An Expert Review with Lessons Learned in Africa.

Omics : A Journal Of Integrative Biology

Geard, Amy A; Pule, Gift D GD; Chelo, David D; Bitoungui, Valentina Josiane Ngo VJ; Wonkam, Ambroise A

Publication Date: 2016-10

Variant appearance in text: rs5750248

PubMed Link: 27726639

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants and cell-free hemoglobin processing in sickle cell nephropathy.

Haematologica

Saraf, Santosh L SL; Zhang, Xu X; Shah, Binal B; Kanias, Tamir T; Gudehithlu, Krishnamurthy P KP; Kittles, Rick R; Machado, Roberto F RF; Arruda, Jose A L JA; Gladwin, Mark T MT; Singh, Ashok K AK; Gordeuk, Victor R VR

Publication Date: 2015-10

Variant appearance in text: rs5750248

PubMed Link: 26206798

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of candidate nephropathy susceptibility genes in a genome-wide association study of African American diabetic kidney disease.

Plos One

Palmer, Nicholette D ND; Ng, Maggie C Y MC; Hicks, Pamela J PJ; Mudgal, Poorva P; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW

Publication Date: 2014

Variant appearance in text: rs5750248

PubMed Link: 24551085

Variant Present in the following documents:

• Main text
• pone.0088273.pdf

View BVdb publication page

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Polymorphisms in the non-muscle myosin heavy chain gene (MYH9) are associated with lower glomerular filtration rate in mixed ancestry diabetic subjects from South Africa.

Plos One

Matsha, Tandi Edith TE; Masconi, Katya K; Yako, Yandiswa Yolanda YY; Hassan, Mogamat Shafick MS; Macharia, Muiriri M; Erasmus, Rajiv Timothy RT; Kengne, Andre Pascal AP

Publication Date: 2012

Variant appearance in text: rs5750248

PubMed Link: 23285077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in APOL1 and MYH9 genes is associated with chronic kidney disease among Nigerians.

International Urology And Nephrology

Tayo, Bamidele O BO; Kramer, Holly H; Salako, Babatunde L BL; Gottesman, Omri O; McKenzie, Colin A CA; Ogunniyi, Adesola A; Bottinger, Erwin P EP; Cooper, Richard S RS

Publication Date: 2013-04

Variant appearance in text: rs5750248

PubMed Link: 22956460

Variant Present in the following documents:

• Main text
• 11255_2012_Article_263.pdf

View BVdb publication page

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MYH9 and APOL1 are both associated with sickle cell disease nephropathy.

British Journal Of Haematology

Ashley-Koch, Allison E AE; Okocha, Emmanuel C EC; Garrett, Melanie E ME; Soldano, Karen K; De Castro, Laura M LM; Jonassaint, Jude C JC; Orringer, Eugene P EP; Eckman, James R JR; Telen, Marilyn J MJ

Publication Date: 2011-11

Variant appearance in text: rs5750248

PubMed Link: 21910715

Variant Present in the following documents:

• Main text

View BVdb publication page

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African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.

Human Molecular Genetics

Behar, Doron M DM; Rosset, Saharon S; Tzur, Shay S; Selig, Sara S; Yudkovsky, Guennady G; Bercovici, Sivan S; Kopp, Jeffrey B JB; Winkler, Cheryl A CA; Nelson, George W GW; Wasser, Walter G WG; Skorecki, Karl K

Publication Date: 2010-05-01

Variant appearance in text: rs5750248

PubMed Link: 20144966

Variant Present in the following documents:

• Main text
• ddq040.pdf

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Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.

Human Molecular Genetics

Nelson, George W GW; Freedman, Barry I BI; Bowden, Donald W DW; Langefeld, Carl D CD; An, Ping P; Hicks, Pamela J PJ; Bostrom, Meredith A MA; Johnson, Randall C RC; Kopp, Jeffrey B JB; Winkler, Cheryl A CA

Publication Date: 2010-05-01

Variant appearance in text: rs5750248

PubMed Link: 20124285

Variant Present in the following documents:

• Main text

View BVdb publication page

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