Li D - Search Results

1

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.

2

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

3

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.

4

Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.

Wenger T, Li D, Harr MH, Tan WH, Pellegrino R, Stark Z, Hakonarson H, Bhoj EJ. Wenger T, et al. Among authors: li d. Am J Med Genet A. 2018 Jan;176(1):75-81. doi: 10.1002/ajmg.a.38516. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130604

5

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.

6

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Kruszka P, et al. Among authors: li d, li m. J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20. J Med Genet. 2015. PMID: 25412741 Free PMC article.

7

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

8

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H. Bhoj EJ, et al. Among authors: li d. Am J Hum Genet. 2016 Apr 7;98(4):782-8. doi: 10.1016/j.ajhg.2016.03.016. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040691 Free PMC article.

9

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.

10

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

Li D, Streeten EA, Chan A, Lwin W, Tian L, Pellegrino da Silva R, Kim CE, Anderson MS, Hakonarson H, Levine MA. Li D, et al. J Clin Endocrinol Metab. 2017 May 1;102(5):1726-1733. doi: 10.1210/jc.2016-3836. J Clin Endocrinol Metab. 2017. PMID: 28323927 Free PMC article.

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