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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2011
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegiaPhilip M Boone, Pengfei Liu, Feng Zhang, et al.
Diabetes Technology & Therapeutics|January 23, 2018
Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?Shideh Majidi, Alexandra Fouts, Laura Pyle, et al.
Parkinsonism & Related Disorders|October 20, 2006
Aprataxin (APTX) gene mutations resembling multiple system atrophyYasuhiko Baba, Ryan J Uitti, Kevin B Boylan, et al.
Archives of Otolaryngology--Head & Neck Surgery|January 15, 2003
High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemiaDavid I Kutler, Arleen D Auerbach, Jaya Satagopan, et al.
Pediatric Diabetes|June 11, 2015
Characteristics of maturity onset diabetes of the young in a large diabetes centerChristina Chambers, Alexandra Fouts, Fran Dong, et al.
Human Mutation|January 29, 2003
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) studyArleen D Auerbach, Jason Greenbaum, Kanan Pujara, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|August 9, 2005
A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patientsSaurabh Chandra, Orna Levran, Ingrid Jurickova, et al.
Blood|April 9, 2004
Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemiaJohn E Wagner, Jakub Tolar, Orna Levran, et al.
Experimental Hematology|May 29, 2002
Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic toolHelmut Hanenberg, Sat Dev Batish, Karen E Pollok, et al.
Nature Genetics|August 24, 2005
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemiaOrna Levran, Claire Attwooll, Rashida T Henry, et al.
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