Mary Buchta

Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma

Sakari Vanharanta, Mary Buchta, Sarah R. McWhinney et al. · The American Journal of Human Genetics · 2004 · 387 citations · Full text

Urology, Tumoral Pathology, Genitourinary Cancer +6

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

Polina Stepensky, Baerbel Keller, Mary Buchta et al. · Journal of Allergy and Clinical Immunology · 2013 · 185 citations

Primary Immunodeficiency, Autoimmune Disease, Disease Mechanism +10

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood

Johanna Schepp, Michele Proietti, Natalie Frede et al. · Arthritis & Rheumatology · 2017 · 128 citations

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

Jin Li, Silje F. Jørgensen, Sólrún Melkorka Maggadóttir et al. · Nature Communications · 2015 · 75 citations · Full text

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Britt‐Sabina Petersen, Dietrich August, Renate Abt et al. · Inflammatory Bowel Diseases · 2017 · 27 citations · Full text