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Page 1
Family SES Is Associated with the Gut Microbiome in Infants and Children.
Lewis CR, Bonham KS, McCann SH, Volpe AR, D'Sa V, Naymik M, De Both MD, Huentelman MJ, Lemery-Chalfant K, Highlander SK, Deoni SCL, Klepac-Ceraj V. Lewis CR, et al. Among authors: huentelman mj. Microorganisms. 2021 Jul 28;9(8):1608. doi: 10.3390/microorganisms9081608. Microorganisms. 2021. PMID: 34442687 Free PMC article.
Brain differences in infants at differential genetic risk for late-onset Alzheimer disease: a cross-sectional imaging study.
Dean DC 3rd, Jerskey BA, Chen K, Protas H, Thiyyagura P, Roontiva A, O'Muircheartaigh J, Dirks H, Waskiewicz N, Lehman K, Siniard AL, Turk MN, Hua X, Madsen SK, Thompson PM, Fleisher AS, Huentelman MJ, Deoni SC, Reiman EM. Dean DC 3rd, et al. Among authors: huentelman mj. JAMA Neurol. 2014 Jan;71(1):11-22. doi: 10.1001/jamaneurol.2013.4544. JAMA Neurol. 2014. PMID: 24276092 Free PMC article.
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Corneveaux JJ, Kurdoglu A, Richholt R, De Both M, Malenica I, Swaminathan S, Rangasamy S, Kulkarni N, Bernes S, Buchhalter J, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Among authors: huentelman mj. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261. Invest Ophthalmol Vis Sci. 2015. PMID: 26091538
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ. Schrauwen I, et al. Among authors: huentelman mj. PLoS One. 2015 Jul 15;10(7):e0131797. doi: 10.1371/journal.pone.0131797. eCollection 2015. PLoS One. 2015. PMID: 26176221 Free PMC article.
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz AM, Belnap N, Siniard AL, Szelinger S, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Balak C, Piras IS, Russell M, Courtright AL, Rangasamy S, Ramsey K, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Moskowitz AM, et al. Among authors: huentelman mj. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a000851. doi: 10.1101/mcs.a000851. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626064 Free PMC article.
Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.
Kari E, Schrauwen I, Llaci L, Fisher LM, Go JL, Naymik M, Knowles JA, Huentelman MJ, Friedman RA. Kari E, et al. Among authors: huentelman mj. Neurol Genet. 2017 May 11;3(3):e153. doi: 10.1212/NXG.0000000000000153. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28534045 Free PMC article. No abstract available.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
Banuelos E, Ramsey K, Belnap N, Krishnan M, Balak C, Szelinger S, Siniard AL, Russell M, Richholt R, De Both M, Piras I, Naymik M, Claasen AM, Rangasamy S, Huentelman MJ, Craig DW, Campeau PM, Narayanan V, Schrauwen I. Banuelos E, et al. Among authors: huentelman mj. F1000Res. 2017 Apr 24;6:553. doi: 10.12688/f1000research.10588.1. eCollection 2017. F1000Res. 2017. PMID: 28663785 Free PMC article.
Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
Piras IS, Mills G, Llaci L, Naymik M, Ramsey K, Belnap N, Balak CD, Jepsen WM, Szelinger S, Siniard AL, Lewis CR, LaFleur M, Richholt RF, De Both MD, Avela K, Rangasamy S, Craig DW, Narayanan V, Järvelä I, Huentelman MJ, Schrauwen I. Piras IS, et al. Among authors: huentelman mj. Epigenomics. 2017 Nov;9(11):1373-1386. doi: 10.2217/epi-2017-0060. Epub 2017 Oct 2. Epigenomics. 2017. PMID: 28967789
239 results