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Journal of Pediatric Hematology/Oncology|June 21, 2016
One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi SyndromeGrainne H Butler, Michael Boyle, Sally Ann Lynch, et al.Clinical Dysmorphology|June 15, 2004
Widespread capillary malformation associated with global developmental delay and megalencephalySuzanne N Leech, Aileen E M Taylor, Venkat Ramesh, et al.European Journal of Medical Genetics|May 22, 2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delaySally Ann Lynch, Lam Son Nguyen, Li Yen Ng, et al.American Journal of Medical Genetics. Part A|August 28, 2023
A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancyJohn Coleman, Karl Kavanagh, Ian Kesterton, et al.Journal of Genetic Counseling|September 27, 2015
Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of IrelandRosie O'Shea, Marie Meany, Cliona Carroll, et al.European Journal of Medical Genetics|February 8, 2014
Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteriaJillian Casey, Paul McGettigan, Donal Brosnahan, et al.JIMD Reports|July 30, 2015
Friedreich Ataxia in Classical GalactosaemiaSiobhán Neville, Siobhan O'Sullivan, Bronagh Sweeney, et al.American Journal of Medical Genetics. Part A|April 23, 2015
Microdeletion 1p35.2: a recognizable facial phenotype with developmental delayBrian T Wilson, Murwan Omer, Stephen W Hellens, et al.European Journal of Pediatrics|November 10, 2016
Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistanceAisling M O'Riordan, Niamh McGrath, Farhana Sharif, et al.BMC Medical Genetics|June 9, 2019
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephalyRasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, et al.Pageof 12