GeneTest Review

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

• Karen W. Gripp
• Angela E. Lin

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

• Barry Wolf

Argininosuccinate lyase deficiency

• Sandesh C.S. Nagamani
• Ayelet Erez
• Brendan Lee

Prader-Willi syndrome

• Suzanne B. Cassidy
• Stuart Schwartz
• Daniel J. Driscoll

Phenylalanine hydroxylase deficiency

• John J Mitchell
• Yannis J Trakadis
• Charles R Scriver

Multiple endocrine neoplasia type 2: An overview

• Jessica Moline
• Charis Eng

Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis

• Jamie McDonald
• Pinar Bayrak-Toydemir
• Reed E Pyeritz

Autism spectrum disorders—A genetics review

• Judith H Miles

Familial Mediterranean fever—A review

• Mordechai Shohat
• Gabrielle J Halpern

von Willebrand disease

• Paula D James
• Anne C Goodeve

Alpha-thalassemia

• Renzo Galanello
• Antonio Cao

Factor V Leiden thrombophilia

• Jody Lynn Kujovich

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

• Fransiska Malfait
• Richard J Wenstrup
• Anne De Paepe

Clinical and genetic aspects of Angelman syndrome

• Charles A Williams
• Daniel J Driscoll
• Aditi I Dagli

Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2

• Nancie Petrucelli
• Mary B Daly
• Gerald L Feldman

The genetics of prion diseases

• James A Mastrianni

Beta-thalassemia

• Antonio Cao
• Renzo Galanello

Clinical and genetic aspects of neurofibromatosis 1

• Kimberly Jett
• Jan M Friedman

Multiple endocrine neoplasia type 1 (MEN1): Not only inherited endocrine tumors

• Alberto Falchetti
• Francesca Marini
• Maria Luisa Brandi