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American Journal of Human Genetics|December 31, 2005
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Neil V Morgan, Shanaz Pasha, Colin A Johnson, et al.
Human Genetics|August 21, 2001
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma casesW M Smith, X P Zhou, K Kurose, et al.
Cancer Research|October 5, 2001
Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinomaC Morrissey, A Martinez, M Zatyka, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|May 11, 2020
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic reviewF Mone, R Y Eberhardt, R K Morris, et al.
Ejhaem|May 19, 2023
Venetoclax with decitabine or azacitidine in the first-line treatment of acute myeloid leukemiaIan M Bouligny, Graeme Murray, Michael Doyel, et al.
Oncogene|March 16, 2002
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancerTimothy R Porter, Frances M Richards, Richard S Houlston, et al.
American Journal of Medical Genetics. Part A|November 13, 2007
Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrédéric Lirussi, Laurence Jonard, Véronique Gaston, et al.
Genes|October 29, 2025
Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic VariabilitySunwoo Liv Lee, Alison Foster, Dalit May, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomaliesElizabeth Quinlan-Jones, Jenny Lord, Denise Williams, et al.
Oncogene|March 12, 2003
Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancersAngelo Agathanggelou, Ashraf Dallol, Sabine Zöchbauer-Müller, et al.
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