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Human Molecular Genetics|March 18, 2005
Mkks-null mice have a phenotype resembling Bardet-Biedl syndromeMelissa A Fath, Robert F Mullins, Charles Searby, et al.Blood Advances|October 15, 2025
Diagnostic sequencing identifies high-risk markers and mechanisms of resistance to guide immunotherapy selectionParvathi Sudha, Phillip Pham, Wen Niu, et al.Clinical Endocrinology|February 16, 2017
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohortNevin Ajluni, Rasimcan Meral, Adam H Neidert, et al.Proceedings of the National Academy of Sciences of the United States of America|April 12, 2006
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Annie P Chiang, John S Beck, Hsan-Jan Yen, et al.Med (New York, N.Y.)|March 16, 2022
Metreleptin therapy for nonalcoholic steatohepatitis: Open-label therapy interventions in two different clinical settingsBaris Akinci, Angela Subauste, Nevin Ajluni, et al.Clinical Endocrinology|January 27, 2021
Cardiac phenotype in familial partial lipodystrophyAbdelwahab Jalal Eldin, Baris Akinci, Andre Monteiro da Rocha, et al.The Journal of Clinical Endocrinology and Metabolism|December 22, 2017
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I MutationIram Hussain, Nivedita Patni, Masako Ueda, et al.Plos One|October 7, 2020
The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studiesFallon K Noto, Jaya Sangodkar, Bisoye Towobola Adedeji, et al.Human Mutation|August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVarErin R Riggs, Tristan Nelson, Andrew Merz, et al.Pageof 2