Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

A Rising Titan:TTNReview and Mutation Update

(2014) Claire Chauveau et al.   HUMAN MUTATION

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

(2014) Satoko Miyatake et al.   NEUROMUSCULAR DISORDERS

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

(2013) Xiaoming Wei et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2

(2011) M Fernanda Amary et al.   NATURE GENETICS

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

(2009) ATJM Helderman-van den Enden et al.   CLINICAL GENETICS

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS