Publications:

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: PIK3CA: A53A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_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: PIK3CA: A53A

PubMed Link: 36075891

Variant Present in the following documents:

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

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Development of a specific live-cell assay for native autophagic flux.

The Journal Of Biological Chemistry

Safren, Nathaniel N; Tank, Elizabeth M EM; Malik, Ahmed M AM; Chua, Jason P JP; Santoro, Nicholas N; Barmada, Sami J SJ

Publication Date: 2021-09

Variant appearance in text: PI3K: A53A

PubMed Link: 34303705

Variant Present in the following documents:

• Main text

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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism.

Nature

Ren, Aileen A AA; Snellings, Daniel A DA; Su, Yourong S YS; Hong, Courtney C CC; Castro, Marco M; Tang, Alan T AT; Detter, Matthew R MR; Hobson, Nicholas N; Girard, Romuald R; Romanos, Sharbel S; Lightle, Rhonda R; Moore, Thomas T; Shenkar, Robert R; Benavides, Christian C; Beaman, M Makenzie MM; Müller-Fielitz, Helge H; Chen, Mei M; Mericko, Patricia P; Yang, Jisheng J; Sung, Derek C DC; Lawton, Michael T MT; Ruppert, J Michael JM; Schwaninger, Markus M; Körbelin, Jakob J; Potente, Michael M; Awad, Issam A IA; Marchuk, Douglas A DA; Kahn, Mark L ML

Publication Date: 2021-06

Variant appearance in text: PIK3CA: A53A

PubMed Link: 33910229

Variant Present in the following documents:

• Main text

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Candidate luminal B breast cancer genes identified by genome, gene expression and DNA methylation profiling.

Plos One

Cornen, Stéphanie S; Guille, Arnaud A; Adélaïde, José J; Addou-Klouche, Lynda L; Finetti, Pascal P; Saade, Marie-Rose MR; Manai, Marwa M; Carbuccia, Nadine N; Bekhouche, Ismahane I; Letessier, Anne A; Raynaud, Stéphane S; Charafe-Jauffret, Emmanuelle E; Jacquemier, Jocelyne J; Spicuglia, Salvatore S; de The, Hugues H; Viens, Patrice P; Bertucci, François F; Birnbaum, Daniel D; Chaffanet, Max M

Publication Date: 2014

Variant appearance in text: PIK3CA: Ala53Ala

PubMed Link: 24416132

Variant Present in the following documents:

• pone.0081843.s021.xlsx, sheet 2

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