Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2011 1
2013 1
2014 2
2019 4
2020 2
2021 3
2022 3
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year

Filters applied: . Clear all
Page 1
HIST1H1E Syndrome.
Burkardt D, Tatton-Brown K. Burkardt D, et al. 2020 Dec 3 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Dec 3 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 33270410 Free Books & Documents. Review.
Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.
Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Aguirre Patiño JS, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, González HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL; NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups. Zhang Y, et al. Neurology. 2023 May 2;100(18):e1930-e1943. doi: 10.1212/WNL.0000000000207157. Epub 2023 Mar 16. Neurology. 2023. PMID: 36927883 Free PMC article.
Approach to overgrowth syndromes in the genome era.
Burkardt DD, Tatton-Brown K, Dobyns W, Graham JM Jr. Burkardt DD, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):483-490. doi: 10.1002/ajmg.c.31757. Epub 2019 Dec 2. Am J Med Genet C Semin Med Genet. 2019. PMID: 31793186 Review.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M. Pennisi A, et al. Among authors: burkardt dd. J Med Genet. 2022 Feb;59(2):204-208. doi: 10.1136/jmedgenet-2020-107367. Epub 2020 Nov 16. J Med Genet. 2022. PMID: 33199448
PTPN4 germline variants result in aberrant neurodevelopment and growth.
Chmielewska JJ, Burkardt D, Granadillo JL, Slaugh R, Morgan S, Rotenberg J, Keren B, Mignot C, Escobar L, Turnpenny P, Zuteck M, Seaver LH, Ploski R, Dziembowska M, Wynshaw-Boris A, Adegbola A. Chmielewska JJ, et al. Among authors: burkardt d. HGG Adv. 2021 Jul 8;2(3):100033. doi: 10.1016/j.xhgg.2021.100033. Epub 2021 Apr 5. HGG Adv. 2021. PMID: 34527963 Free PMC article.
Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study.
Wang H, Kurniansyah N, Cade BE, Goodman MO, Chen H, Gottlieb DJ, Gharib SA, Purcell SM, Lin X, Saxena R, Zhu X, Durda P, Tracy R, Liu Y, Taylor KD, Johnson WC, Gabriel S, Smith JD, Aguet F, Ardlie K, Blackwell T, Reiner AP, Rotter JI, Rich SS; TOPMed Sleep Traits Working Group; Redline S, Sofer T. Wang H, et al. Sci Rep. 2022 Jan 27;12(1):1472. doi: 10.1038/s41598-022-05415-4. Sci Rep. 2022. PMID: 35087136 Free PMC article.
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. Pirozzi F, et al. Among authors: burkardt dd. Am J Med Genet A. 2021 Sep;185(9):2719-2738. doi: 10.1002/ajmg.a.62362. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34087052 Free PMC article. Review.
15 results