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American Journal of Human Genetics|April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeYun Li, Barbara Pawlik, Nursel Elcioglu, et al.Nature Genetics|November 5, 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren M Lower, Gillian Turner, Bronwyn A Kerr, et al.Human Molecular Genetics|August 2, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationRebecca Greenlees, Marija Mihelec, Saira Yousoof, et al.Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.American Journal of Medical Genetics. Part A|September 27, 2016
Clinical and genetic aspects of KBG syndromeKaren Low, Tazeen Ashraf, Natalie Canham, et al.American Journal of Human Genetics|June 18, 2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|May 8, 2016
Filgrastim-Stimulated Bone Marrow Compared with Filgrastim-Mobilized Peripheral Blood in Myeloablative Sibling Allografting for Patients with Hematologic Malignancies: A Randomized Canadian Blood and Marrow Transplant Group StudyStephen Couban, Mahmoud Aljurf, Sylvie Lachance, et al.Haematologica|September 23, 2017
CD56<sup>bright</sup> natural killer regulatory cells in filgrastim primed donor blood or marrow products regulate chronic graft-<i>versus</i>-host disease: the Canadian Blood and Marrow Transplant Group randomized 0601 study resultsAmina Kariminia, Sabine Ivison, Bernard Ng, et al.Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.Pageof 36