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Publications by A. J. Walne

Exome Sequencing Identifies MPL as a Causative Gene in Familial Aplastic Anemia

English

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Exome Sequencing Identifies Germline Variants in DIS3 in Familial Multiple Myeloma

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Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy

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Whole Exome Sequencing Identifies a New Mutation in the SLC19A2 Gene Leading to Thiamine‐responsive Megaloblastic Anemia in an Egyptian Family

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Molecular Biology

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Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology : JASN

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Whole‑exome Sequencing Identifies a Novel Mutation (R367G) in SCN5A to Be Associated With Familial Cardiac Conduction Disease

Molecular Medicine Reports

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Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred With Familial Amyloid Polyneuropathy

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“Next Generation Sequencing Identifies Mutations in GNPTG Gene as a Cause of Familial Form of Scleroderma-Like Disease”

Pediatric Rheumatology

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Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma

Nature Genetics

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Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Neuromuscular Disorders

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