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Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.
Strong A, March ME, Cardinale CJ, Liu Y, Battig MR, Finoti LS, Matsuoka LS, Watson D, Sridhar S, Jarrett JF, Cannon I, Li D, Bhoj E, Zackai EH, Rand EB, Wenger T, Lerman BB, Shikany A, Weaver KN, Hakonarson H. Strong A, et al. Among authors: liu y. Genet Med. 2024 Oct;26(10):101222. doi: 10.1016/j.gim.2024.101222. Epub 2024 Jul 20. Genet Med. 2024. PMID: 39045790
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C. Almoguera B, et al. Among authors: liu y, liu x. PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015. PLoS One. 2015. PMID: 26197217 Free PMC article.
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.
Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Price Foundation Collaborative Group; Hakonarson H. Li D, et al. Among authors: liu y. Sci Rep. 2017 Jun 19;7(1):3847. doi: 10.1038/s41598-017-01674-8. Sci Rep. 2017. PMID: 28630421 Free PMC article.
Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.
Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Price Foundation Collaborative Group; Hakonarson H. Li D, et al. Among authors: liu y. Sci Rep. 2017 Aug 21;7(1):8379. doi: 10.1038/s41598-017-06409-3. Sci Rep. 2017. PMID: 28827695 Free PMC article.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H. Li D, et al. Among authors: liu y. Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218. Hum Mol Genet. 2018. PMID: 29905864 Free PMC article.
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