Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24.
Am J Med Genet A. 2020.
PMID: 32710489
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.
Zarate YA, et al. Among authors: bombei h.
Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.
Am J Med Genet A. 2018.
PMID: 29436146
Item in Clipboard
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C.
Gregor A, et al. Among authors: bombei hm.
Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265.
Hum Mol Genet. 2022.
PMID: 34505148
Free PMC article.
Item in Clipboard
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.
Amyere M, et al. Among authors: bombei h.
Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.
Circulation. 2017.
PMID: 28687708
Free article.
Item in Clipboard
Molecular characterization of the calcium release channel deficiency syndrome.
Tester DJ, Kim CSJ, Hamrick SK, Ye D, O'Hare BJ, Bombei HM, Fitzgerald KK, Haglund-Turnquist CM, Atkins DL, Nunez LAO, Law I, Temple J, Ackerman MJ.
Tester DJ, et al. Among authors: bombei hm.
JCI Insight. 2020 Aug 6;5(15):e135952. doi: 10.1172/jci.insight.135952.
JCI Insight. 2020.
PMID: 32663189
Free PMC article.
Item in Clipboard
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ.
Tester DJ, et al. Among authors: bombei hm.
JAMA Cardiol. 2020 Mar 1;5(3):13-18. doi: 10.1001/jamacardio.2019.5400.
JAMA Cardiol. 2020.
PMID: 31913406
Free PMC article.
Item in Clipboard
Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability.
Hajianpour MJ, Bombei H, Lieberman SM, Revell R, Krishna R, Gregorsok R, Kao S, Milunsky JM.
Hajianpour MJ, et al. Among authors: bombei h.
J Am Dent Assoc. 2017 Mar;148(3):157-163. doi: 10.1016/j.adaj.2016.11.016. Epub 2016 Dec 30.
J Am Dent Assoc. 2017.
PMID: 28043400
Item in Clipboard
Cite
Cite