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European Journal of Human Genetics : EJHG|September 19, 2019
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policyDiantha Terlouw, Manon Suerink, Sunny S Singh, et al.Molecular Cancer Therapeutics|March 17, 2018
ICEC0942, an Orally Bioavailable Selective Inhibitor of CDK7 for Cancer TreatmentHetal Patel, Manikandan Periyasamy, Georgina P Sava, et al.The Journal of Investigative Dermatology|July 6, 2007
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 familiesEdward M Leter, A Karijn Koopmans, Johan J P Gille, et al.Journal of Medical Genetics|November 8, 2011
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in womenMuriel A Adank, Marianne A Jonker, Irma Kluijt, et al.Cancer Research|April 3, 2003
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative methodFrans B L Hogervorst, Petra M Nederlof, Johan J P Gille, et al.Kidney International|September 10, 2015
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidneyRik Westland, Miguel Verbitsky, Katarina Vukojevic, et al.Journal of the American Academy of Dermatology|July 29, 2011
Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locusTheo M Starink, Arjan C Houweling, Martijn B A van Doorn, et al.Cell Reports|August 16, 2016
Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer PolymorphismRadhika Kandaswamy, Georgina P Sava, Helen E Speedy, et al.Familial Cancer|December 25, 2012
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluationFred H Menko, Paul C Johannesma, R Jeroen A van Moorselaar, et al.Journal of Medical Genetics|April 18, 2013
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertensionWilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, et al.Pageof 18