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Families, Systems & Health : the Journal of Collaborative Family Healthcare|July 10, 2025
Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregiversGianna M Colombo, Andrew D Wiese, Amelia E Mercado, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
Genetics in Medicine Open|December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traitsZeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
JBMR Plus|May 28, 2019
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis ImperfectaJaskaran S Bains, Erin M Carter, Kate P Citron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Molecular Genetics and Metabolism|July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyNathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Pediatric Nephrology (Berlin, Germany)|January 7, 2022
A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insightsBen Pode-Shakked, Yishay Ben-Moshe, Ortal Barel, et al.
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