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: 1812+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: DMD: 1812+1G>A

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

---

Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications

Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R

Publication Date: 2021-06-17

Variant appearance in text: DMD: 1812+1G>A

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

View BVdb publication page

---

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: DMD: 1812+1G>A

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.

Frontiers In Genetics

Neri, Marcella M; Rossi, Rachele R; Trabanelli, Cecilia C; Mauro, Antonio A; Selvatici, Rita R; Falzarano, Maria Sofia MS; Spedicato, Noemi N; Margutti, Alice A; Rimessi, Paola P; Fortunato, Fernanda F; Fabris, Marina M; Gualandi, Francesca F; Comi, Giacomo G; Tedeschi, Silvana S; Seia, Manuela M; Fiorillo, Chiara C; Traverso, Monica M; Bruno, Claudio C; Giardina, Emiliano E; Piemontese, Maria Rosaria MR; Merla, Giuseppe G; Cau, Milena M; Marica, Monica M; Scuderi, Carmela C; Borgione, Eugenia E; Tessa, Alessandra A; Astrea, Guia G; Santorelli, Filippo Maria FM; Merlini, Luciano L; Mora, Marina M; Bernasconi, Pia P; Gibertini, Sara S; Sansone, Valeria V; Mongini, Tiziana T; Berardinelli, Angela A; Pini, Antonella A; Liguori, Rocco R; Filosto, Massimiliano M; Messina, Sonia S; Vita, Gianluca G; Toscano, Antonio A; Vita, Giuseppe G; Pane, Marika M; Servidei, Serenella S; Pegoraro, Elena E; Bello, Luca L; Travaglini, Lorena L; Bertini, Enrico E; D'Amico, Adele A; Ergoli, Manuela M; Politano, Luisa L; Torella, Annalaura A; Nigro, Vincenzo V; Mercuri, Eugenio E; Ferlini, Alessandra A

Publication Date: 2020

Variant appearance in text: DMD: 1812+1G>A

PubMed Link: 32194622

Variant Present in the following documents:

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DMD: 1812+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

A case report with the peculiar concomitance of 2 different genetic syndromes.

Medicine

Lerario, Alberto A; Colombo, Irene I; Milani, Donatella D; Peverelli, Lorenzo L; Villa, Luisa L; Del Bo, Roberto R; Sciacco, Monica M; Comi, Giacomo Pietro GP; Esposito, Susanna S; Moggio, Maurizio M

Publication Date: 2016-12

Variant appearance in text: DMD: 1812+1G>A

PubMed Link: 27930565

Variant Present in the following documents:

• Main text
• medi-95-e5567.pdf

View BVdb publication page

---