Concepedia
Statistics
Publications
6
Citations
837
H-Index
Active since
2004
Affiliations
University of Freiburg(Current)
University Medical Center Freiburg
University College London
The Royal Free Hospital
Charité - Universitätsmedizin Berlin
Mary Buchta is an author at University of Freiburg specializing in genetics, life sciences, and immunology.
Publications per year
2004–2021
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
Medicine, Genetics, Oncology +15
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 · 189 citations
Life Sciences, Immunology, Molecular Genetics +14
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 · 130 citations
Life Sciences, Genetics, Immunology +17
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 · 78 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
Medicine, Genetics, Molecular Genetics +16
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