Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: DMD: 5530C>T; Arg1844Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O

Publication Date: 2022-08-30

Variant appearance in text: DMD: R1844X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

View BVdb publication page

---

Poster Presentation.

Experimental Animals

Publication Date: 2022

Variant appearance in text: DMD: 5530C>T; R1844X

PubMed Link: 35705295

Variant Present in the following documents:

• expanim-71-S77.pdf

View BVdb publication page

---

Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology

Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F

Publication Date: 2021

Variant appearance in text: DMD: 5530C>T; Arg1844*

PubMed Link: 34149409

Variant Present in the following documents:

• Main text
• fphar-12-648390.pdf

View BVdb publication page

---

Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2021-06-02

Variant appearance in text: DMD: 5530C>T; Arg1844*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

View BVdb publication page

---

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.

Neurology. Genetics

Waddell, Leigh B LB; Bryen, Samantha J SJ; Cummings, Beryl B BB; Bournazos, Adam A; Evesson, Frances J FJ; Joshi, Himanshu H; Marshall, Jamie L JL; Tukiainen, Taru T; Valkanas, Elise E; Weisburd, Ben B; Sadedin, Simon S; Davis, Mark R MR; Faiz, Fathimath F; Gooding, Rebecca R; Sandaradura, Sarah A SA; O'Grady, Gina L GL; Tchan, Michel C MC; Mowat, David R DR; Oates, Emily C EC; Farrar, Michelle A MA; Sampaio, Hugo H; Ma, Alan A; Neas, Katherine K; Wang, Min-Xia MX; Charlton, Amanda A; Chan, Charles C; Kenwright, Diane N DN; Graf, Nicole N; Arbuckle, Susan S; Clarke, Nigel F NF; MacArthur, Daniel G DG; Jones, Kristi J KJ; Lek, Monkol M; Cooper, Sandra T ST

Publication Date: 2021-02

Variant appearance in text: DMD: 5530C>T; Arg1844*

PubMed Link: 33977140

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases

Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y

Publication Date: 2018-07-04

Variant appearance in text: DMD: 5530C>T; Arg1844*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

View BVdb publication page

---

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

Plos One

Mohammed, Fawziah F; Elshafey, Alaa A; Al-Balool, Haya H; Alaboud, Hayat H; Al Ben Ali, Mohammed M; Baqer, Adel A; Bastaki, Laila L

Publication Date: 2018

Variant appearance in text: DMD: 5530C>T; R1844*

PubMed Link: 29847600

Variant Present in the following documents:

• Main text
• pone.0197205.pdf

View BVdb publication page

---

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Neuromuscular Disorders : Nmd

Menezes, Manoj P MP; Waddell, Leigh L; Lenk, Guy M GM; Kaur, Simranpreet S; MacArthur, Daniel G DG; Meisler, Miriam H MH; Clarke, Nigel F NF

Publication Date: 2014-08

Variant appearance in text: DMD: 5530C>T; R1844X

PubMed Link: 24878229

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One

Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW

Publication Date: 2013

Variant appearance in text: DMD: R1844X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

View BVdb publication page

---

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 5530C>T; Arg1844X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

View BVdb publication page

---

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics

Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP

Publication Date: 2011-03-11

Variant appearance in text: DMD: 5530C>T; Arg1844X

PubMed Link: 21396098

Variant Present in the following documents:

• Main text
• 1471-2350-12-37.pdf

View BVdb publication page

---

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd

Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2010-01

Variant appearance in text: DMD: 5530C>T; R1844X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

View BVdb publication page

---