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1.

Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.

Pickart, Angela M; Martin, Ann S; Gross, Brianna N; Dellefave-Castillo, Lisa M; McCallen, Leslie M; Nagaraj, Chinmayee B; Rippert, Alyssa L; Schultz, Catherine P; Ulm, Elizabeth A; Armstrong, Niki.

J Genet Couns ; 2024 Apr 29.

Article in English | MEDLINE | ID: mdl-38682751

2.

Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial.

Sylvia, Louisa G; Lunn, Mitchell R; Obedin-Maliver, Juno; McBurney, Robert N; Nowell, W Benjamin; Nosheny, Rachel L; Mularski, Richard A; Long, Millie D; Merkel, Peter A; Pletcher, Mark J; Tovey, Roberta E; Scalchunes, Christopher; Sutphen, Rebecca; Martin, Ann S; Horn, Elizabeth J; O'Boyle, Megan; Pitch, Lisa; Seid, Michael; Redline, Susan; Greenebaum, Sophie; George, Nevita; French, Noah J; Faria, Caylin M; Puvanich, Nicha; Rabideau, Dustin J; Selvaggi, Caitlin A; Yu, Chu; Faraone, Stephen V; Venkatachalam, Shilpa; McCall, Debbe; Terry, Sharon F; Deckersbach, Thilo; Nierenberg, Andrew A.

J Med Internet Res ; 24(9): e35620, 2022 09 12.

Article in English | MEDLINE | ID: mdl-36094813

3.

Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors.

Counterman, Kevin J; Furlong, Pat; Wang, Richard T; Martin, Ann S.

Muscle Nerve ; 61(1): 36-43, 2020 01.

Article in English | MEDLINE | ID: mdl-31573675

4.

Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims.

Chen, Xiaoxue; Agiro, Abiy; Martin, Ann S; Lucas, Ann M; Haynes, Kevin.

BMC Med Res Methodol ; 19(1): 174, 2019 08 09.

Article in English | MEDLINE | ID: mdl-31399066

5.

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.

Wang, Richard T; Barthelemy, Florian; Martin, Ann S; Douine, Emilie D; Eskin, Ascia; Lucas, Ann; Lavigne, Jenifer; Peay, Holly; Khanlou, Negar; Sweeney, Lee; Cantor, Rita M; Miceli, M Carrie; Nelson, Stanley F.

Hum Mutat ; 39(9): 1193-1202, 2018 09.

Article in English | MEDLINE | ID: mdl-29907980

6.

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.

Aartsma-Rus, Annemieke; Hegde, Madhuri; Ben-Omran, Tawfeg; Buccella, Filippo; Ferlini, Alessandra; Gallano, Pia; Howell, R Rodney; Leturcq, France; Martin, Ann S; Potulska-Chromik, Anna; Saute, Jonas A; Schmidt, Wolfgang M; Sejersen, Thomas; Tuffery-Giraud, Sylvie; Uyguner, Zehra Oya; Witcomb, Luci A; Yau, Shu; Nelson, Stanley F.

J Pediatr ; 204: 305-313.e14, 2019 01.

Article in English | MEDLINE | ID: mdl-30579468

7.

Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.

McDonald, Craig; Camino, Eric; Escandon, Rafael; Finkel, Richard S; Fischer, Ryan; Flanigan, Kevin; Furlong, Pat; Juhasz, Rose; Martin, Ann S; Villa, Chet; Sweeney, H Lee.

J Neuromuscul Dis ; 11(2): 499-523, 2024.

Article in English | MEDLINE | ID: mdl-38363616

8.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz, Pawel; Kulkarni, Shashikant; Dharmadhikari, Avinash V; Sampath, Srirangan; Bhatt, Samarth S; Shaikh, Tamim H; Xia, Zhilian; Pursley, Amber N; Cooper, M Lance; Shinawi, Marwan; Paciorkowski, Alex R; Grange, Dorothy K; Noetzel, Michael J; Saunders, Scott; Simons, Paul; Summar, Marshall; Lee, Brendan; Scaglia, Fernando; Fellmann, Florence; Martinet, Danielle; Beckmann, Jacques S; Asamoah, Alexander; Platky, Kathryn; Sparks, Susan; Martin, Ann S; Madan-Khetarpal, Suneeta; Hoover, Jacqueline; Medne, Livija; Bonnemann, Carsten G; Moeschler, John B; Vallee, Stephanie E; Parikh, Sumit; Irwin, Polly; Dalzell, Victoria P; Smith, Wendy E; Banks, Valerie C; Flannery, David B; Lovell, Carolyn M; Bellus, Gary A; Golden-Grant, Kathryn; Gorski, Jerome L; Kussmann, Jennifer L; McGregor, Tracy L; Hamid, Rizwan; Pfotenhauer, Jean; Ballif, Blake C; Shaw, Chad A; Kang, Sung-Hae L; Bacino, Carlos A; Patel, Ankita.

Hum Mutat ; 33(1): 165-79, 2012 Jan.

Article in English | MEDLINE | ID: mdl-21948486

9.

Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy.

Counterman, Kevin J; Fatovic, Kathy; Good, Daniel C; Martin, Ann S; Dasgupta, Sonali; Anziska, Yaacov.

J Neuromuscul Dis ; 9(6): 757-764, 2022.

Article in English | MEDLINE | ID: mdl-36245385

10.

Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review.

Waldrop, Megan A; Yaou, Rabah Ben; Lucas, Karin K; Martin, Ann S; O'Rourke, Erin; Ferlini, Alessandra; Muntoni, Francesco; Leturcq, France; Tuffery-Giraud, Sylvie; Weiss, Robert B; Flanigan, Kevin M.

J Neuromuscul Dis ; 7(3): 217-229, 2020.

Article in English | MEDLINE | ID: mdl-32417793

11.

Evaluating Implementation of the Updated Care Considerations for Duchenne Muscular Dystrophy.

Ong, Katherine S; Kinnett, Kathi; Soelaeman, Rieza; Webb, Lauren; Bain, Jennifer S; Martin, Ann S; Westfield, Christina; Bolen, Julie; Street, Natalie.

Pediatrics ; 142(Suppl 2): S118-S128, 2018 10.

Article in English | MEDLINE | ID: mdl-30275256

12.

DuchenneConnect Registry Report.

Rangel, Vanessa; Martin, Ann S; Peay, Holly L.

PLoS Curr ; 4: RRN1309, 2012 Feb 29.

Article in English | MEDLINE | ID: mdl-22453902

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