Ekaterina Kuchinskaya

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Preventive medicine of von Hippel–Lindau disease-associated pancreatic neuroendocrine tumors

Alfonso Massimiliano Ferrara, Thera P. Links, Ulrich F. Wellner et al. · Endocrine Related Cancer · 2018 · 67 citations · Full text

Medicine, Oncology, Surgery +17

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson et al. · Genetics in Medicine · 2018 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characterisation of dic(9;20)(p11–13;q11) in childhood B‐cell precursor acute lymphoblastic leukaemia by tiling resolution array‐based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2

Jacqueline Schoumans, Bertil Johansson, Martin Corcoran et al. · British Journal of Haematology · 2006 · 55 citations

Life Sciences, Genetics, Molecular Genetics +17

Identification of the best cutoff points and clinical signs specific for early recognition of macrophage activation syndrome in active systemic juvenile idiopathic arthritis

Mikhail M. Kostik, M. F. Dubko, V.V. Masalova et al. · Seminars in Arthritis and Rheumatism · 2014 · 48 citations

Medicine, Clinical Sciences, Immunology +15