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: VCAN: T116T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_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: VCAN: T116T

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

Frontiers In Genetics

Passarelli, Chiara C; Selvatici, Rita R; Carrieri, Alberto A; Di Raimo, Francesca Romana FR; Falzarano, Maria Sofia MS; Fortunato, Fernanda F; Rossi, Rachele R; Straub, Volker V; Bushby, Katie K; Reza, Mojgan M; Zharaieva, Irina I; D'Amico, Adele A; Bertini, Enrico E; Merlini, Luciano L; Sabatelli, Patrizia P; Borgiani, Paola P; Novelli, Giuseppe G; Messina, Sonia S; Pane, Marika M; Mercuri, Eugenio E; Claustres, Mireille M; Tuffery-Giraud, Sylvie S; Aartsma-Rus, Annemieke A; Spitali, Pietro P; T'Hoen, Peter A C PAC; Lochmüller, Hanns H; Strandberg, Kristin K; Al-Khalili, Cristina C; Kotelnikova, Ekaterina E; Lebowitz, Michael M; Schwartz, Elena E; Muntoni, Francesco F; Scapoli, Chiara C; Ferlini, Alessandra A

Publication Date: 2020

Variant appearance in text: VCAN: Thr116=

PubMed Link: 32719714

Variant Present in the following documents:

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