Li D - Search Results

1

Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.

Lanvin PL, Li D, Conrad S, Magot A, Micaelli X, Péréon Y, Vincent M, Isidor B, Sternberg D, McCormick EM, Hakonarson H, Mercier S, Falk MJ. Lanvin PL, et al. Among authors: li d. Neurol Clin Pract. 2024 Jun;14(3):e200228. doi: 10.1212/CPJ.0000000000200228. Epub 2024 Apr 26. Neurol Clin Pract. 2024. PMID: 38690148

2

A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

Vogiatzi MG, Li D, Tian L, Garifallou JP, Kim CE, Hakonarson H, Levine MA. Vogiatzi MG, et al. Among authors: li d. Osteoporos Int. 2018 Jan;29(1):247-251. doi: 10.1007/s00198-017-4229-3. Epub 2017 Oct 3. Osteoporos Int. 2018. PMID: 28971234

3

Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios.

Liu Y, Chang X, Glessner J, Qu H, Tian L, Li D, Nguyen K, Sleiman PMA, Hakonarson H. Liu Y, et al. Among authors: li d. Front Genet. 2019 Sep 10;10:819. doi: 10.3389/fgene.2019.00819. eCollection 2019. Front Genet. 2019. PMID: 31552105 Free PMC article.

4

Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.

Li D, Bupp C, March ME, Hakonarson H, Levine MA. Li D, et al. J Clin Endocrinol Metab. 2020 Sep 1;105(9):e3197-206. doi: 10.1210/clinem/dgaa286. J Clin Endocrinol Metab. 2020. PMID: 32436958 Free PMC article.

5

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.

Thompson W, Carey PZ, Donald T, Nelson B, Bhoj EJ, Li D, Hakonarson H, Ramirez M, Elsea SH, Smith JL, Carey JC, Sobering AK. Thompson W, et al. Among authors: li d. Mol Genet Genomic Med. 2020 Aug;8(8):e1318. doi: 10.1002/mgg3.1318. Epub 2020 Jun 8. Mol Genet Genomic Med. 2020. PMID: 32511891 Free PMC article.

6

A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.

Ope O, Bhoj EJ, Nelson B, Li D, Hakonarson H, Sobering AK. Ope O, et al. Among authors: li d. Am J Med Genet A. 2020 Aug;182(8):1877-1880. doi: 10.1002/ajmg.a.61744. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618095

7

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: li d. Genet Med. 2020 Nov;22(11):1920. doi: 10.1038/s41436-020-00944-7. Genet Med. 2020. PMID: 32814847 Free article.

8

Kaposiform lymphangiomatosis effectively treated with MEK inhibition.

Foster JB, Li D, March ME, Sheppard SE, Adams DM, Hakonarson H, Dori Y. Foster JB, et al. Among authors: li d. EMBO Mol Med. 2020 Oct 7;12(10):e12324. doi: 10.15252/emmm.202012324. Epub 2020 Sep 7. EMBO Mol Med. 2020. PMID: 32894644 Free PMC article.

9

Non-coding structural variation differentially impacts attention-deficit hyperactivity disorder (ADHD) gene networks in African American vs Caucasian children.

Liu Y, Chang X, Qu H, Glessner J, Tian L, Li D, Qiu H, Sleiman PMA, Hakonarson H. Liu Y, et al. Among authors: li d. Sci Rep. 2020 Sep 17;10(1):15252. doi: 10.1038/s41598-020-71307-0. Sci Rep. 2020. PMID: 32943653 Free PMC article.

10

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E. Li D, et al. Genet Med. 2021 Apr;23(4):637-644. doi: 10.1038/s41436-020-01031-7. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244166 Free article.

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