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Gazda, Hanna, Rong Zhong, Lilia Long, Edyta Niewiadomska, Jeffrey Lipton, Anna Ploszynska, Jan Zaucha, et al. 2004. “RNA and Protein Evidence for Haplo-Insufficiency in Diamond-Blackfan Anaemia Patients With RPS19 Mutations.”. Br J Haematol 127 (1): 105-13.

Wallgren-Pettersson, Carina, Katarina Pelin, Kristen Nowak, Francesco Muntoni, Norma Romero, Hans Goebel, Kathryn North, Alan Beggs, Nigel Laing, and ENMC International Consortium On Nemaline Myopathy. 2004. “Genotype-Phenotype Correlations in Nemaline Myopathy Caused by Mutations in the Genes for Nebulin and Skeletal Muscle Alpha-Actin.”. Neuromuscul Disord 14 (8-9): 461-70.

Haslett, Judith, Despina Sanoudou, Alvin Kho, Richard Bennett, Steven Greenberg, Isaac Kohane, Alan Beggs, and Louis Kunkel. 2002. “Gene Expression Comparison of Biopsies from Duchenne Muscular Dystrophy (DMD) and Normal Skeletal Muscle.”. Proc Natl Acad Sci U S A 99 (23): 15000-5.

Wallgren-Pettersson, Pelin, Hilpelä, Donner, Porfirio, Graziano, Swoboda, et al. 1999. “Clinical and Genetic Heterogeneity in Autosomal Recessive Nemaline Myopathy.”. Neuromuscul Disord 9 (8): 564-72.

North, Yang, Wattanasirichaigoon, Mills, Easteal, and AH Beggs. 1999. “A Common Nonsense Mutation Results in Alpha-Actinin-3 Deficiency in the General Population.”. Nat Genet 21 (4): 353-4.

Duggal, Vesely, Wattanasirichaigoon, Villafane, Kaushik, and AH Beggs. 1998. “Mutation of the Gene for IsK Associated With Both Jervell and Lange-Nielsen and Romano-Ward Forms of Long-QT Syndrome.”. Circulation 97 (2): 142-6.

Vainzof, Costa, Marie, Moreira, Reed, Passos-Bueno, AH Beggs, and Zatz. 1997. “Deficiency of Alpha-Actinin-3 (ACTN3) Occurs in Different Forms of Muscular Dystrophy.”. Neuropediatrics 28 (4): 223-8.

Beggs, AH. 1997. “Dystrophinopathy, the Expanding Phenotype. Dystrophin Abnormalities in X-Linked Dilated Cardiomyopathy.”. Circulation 95 (10): 2344-7.

Engle, Goumnerov, McKeown, Schatz, Johns, Porter, and AH Beggs. 1997. “Oculomotor Nerve and Muscle Abnormalities in Congenital Fibrosis of the Extraocular Muscles.”. Ann Neurol 41 (3): 314-25.

North, and AH Beggs. 1996. “Deficiency of a Skeletal Muscle Isoform of Alpha-Actinin (alpha-Actinin-3) in Merosin-Positive Congenital Muscular Dystrophy.”. Neuromuscul Disord 6 (4): 229-35.