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: TTN: N7744K

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine

Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M

Publication Date: 2020

Variant appearance in text: TTN: 23232C>G; Asn7744Lys

PubMed Link: 33110626

Variant Present in the following documents:

• 41525_2020_153_MOESM1_ESM.pdf

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MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Human Molecular Genetics

Bugiardini, Enrico E; Mitchell, Alice L AL; Rosa, Ilaria Dalla ID; Horning-Do, Hue-Tran HT; Pitmann, Alan M AM; Poole, Olivia V OV; Holton, Janice L JL; Shah, Sachit S; Woodward, Cathy C; Hargreaves, Iain I; Quinlivan, Rosaline R; Amunts, Alexey A; Wiesner, Rudolf J RJ; Houlden, Henry H; Holt, Ian J IJ; Hanna, Michael G MG; Pitceathly, Robert D S RDS; Spinazzola, Antonella A

Publication Date: 2019-08-15

Variant appearance in text: TTN: 23232C>G; N7744K; rs72648972

PubMed Link: 31039582

Variant Present in the following documents:

• hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx, sheet 1

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: TTN: N7744K; rs72648972

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

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Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Amino Acids

Nava, Caroline C; Rupp, Johanna J; Boissel, Jean-Paul JP; Mignot, Cyril C; Rastetter, Agnès A; Amiet, Claire C; Jacquette, Aurélia A; Dupuits, Céline C; Bouteiller, Delphine D; Keren, Boris B; Ruberg, Merle M; Faudet, Anne A; Doummar, Diane D; Philippe, Anne A; Périsse, Didier D; Laurent, Claudine C; Lebrun, Nicolas N; Guillemot, Vincent V; Chelly, Jamel J; Cohen, David D; Héron, Delphine D; Brice, Alexis A; Closs, Ellen I EI; Depienne, Christel C

Publication Date: 2015-12

Variant appearance in text: TTN: N7744K; rs72648972

PubMed Link: 26215737

Variant Present in the following documents:

• 726_2015_2057_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page