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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906502
Free article.
Evaluation of satisfaction of parents with the use of videoconferencing for a pediatric genetic consultation.
Hopper B, Buckman M, Edwards M.
Hopper B, et al.
Twin Res Hum Genet. 2011 Aug;14(4):343-6. doi: 10.1375/twin.14.4.343.
Twin Res Hum Genet. 2011.
PMID: 21787118
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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.
Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.
Genet Med. 2019.
PMID: 30245513
Free PMC article.
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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.
Genet Med. 2020 Nov;22(11):1920. doi: 10.1038/s41436-020-00944-7.
Genet Med. 2020.
PMID: 32814847
Free article.
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A case of White-Sutton syndrome with previously described loss-of-function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome.
Dal S, Hopper B, du Chattel MVR, Goel H.
Dal S, et al.
Am J Med Genet A. 2021 Mar;185(3):1006-1007. doi: 10.1002/ajmg.a.62042. Epub 2020 Dec 30.
Am J Med Genet A. 2021.
PMID: 33377604
No abstract available.
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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG.
Ben-Mahmoud A, et al.
Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4.
Sci Rep. 2023.
PMID: 37563198
Free PMC article.
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