Li D - Search Results

1

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B. Bend EG, et al. Among authors: li d. Clin Epigenetics. 2019 Apr 27;11(1):64. doi: 10.1186/s13148-019-0658-5. Clin Epigenetics. 2019. PMID: 31029150 Free PMC article.

2

Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

Murali C, Li D, Grand K, Hakonarson H, Bhoj E. Murali C, et al. Among authors: li d. Am J Med Genet A. 2019 Apr;179(4):655-658. doi: 10.1002/ajmg.a.61060. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719842 Free PMC article.

3

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH. Bhoj EJ, et al. Among authors: li d. Am J Med Genet A. 2015 Nov;167A(11):2497-502. doi: 10.1002/ajmg.a.37217. Epub 2015 Jun 25. Am J Med Genet A. 2015. PMID: 26111080

4

Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

Li D, Tian L, Hakonarson H. Li D, et al. Ann Transl Med. 2018 Apr;6(7):126. doi: 10.21037/atm.2018.01.14. Ann Transl Med. 2018. PMID: 29955586 Free PMC article. No abstract available.

5

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA. Zarate YA, et al. Among authors: li d. Am J Med Genet A. 2016 Aug;170(8):1967-73. doi: 10.1002/ajmg.a.37722. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264197 Free PMC article. Review.

6

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Ryan KM, Ellis AR, Raafat R, Bhoj EJ, Hakonarson H, Li D, Schrier Vergano S. Ryan KM, et al. Among authors: li d. Am J Med Genet A. 2016 Feb;170A(2):482-486. doi: 10.1002/ajmg.a.37438. Epub 2015 Oct 15. Am J Med Genet A. 2016. PMID: 26471230

7

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

Li D, Tian L, Hou C, Kim CE, Hakonarson H, Levine MA. Li D, et al. J Clin Endocrinol Metab. 2016 May;101(5):2196-200. doi: 10.1210/jc.2016-1211. Epub 2016 Mar 10. J Clin Endocrinol Metab. 2016. PMID: 26963954 Free PMC article.

8

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Li D, Bhoj E, McCormick E, Wang F, Snyder J, Wang T, Zhao Y, Kim C, Chiavacci R, Tian L, Falk MJ, Hakonarson H. Li D, et al. Case Rep Genet. 2016;2016:4140780. doi: 10.1155/2016/4140780. Epub 2016 Mar 16. Case Rep Genet. 2016. PMID: 27069701 Free PMC article.

9

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.

Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ. Pinz H, et al. Among authors: li d. Am J Med Genet A. 2018 Apr;176(4):969-972. doi: 10.1002/ajmg.a.38620. Epub 2018 Feb 15. Am J Med Genet A. 2018. PMID: 29446546 Free PMC article.

10

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA. Li D, et al. Eur J Hum Genet. 2015 Feb;23(2):264-6. doi: 10.1038/ejhg.2014.76. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781753 Free PMC article.

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