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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4.
Am J Hum Genet. 2020.
PMID: 32891193
Free PMC article.
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE.
Miller DE, et al.
Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2.
Am J Hum Genet. 2021.
PMID: 34216551
Free PMC article.
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A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.
Miller DE, Squire A, Bennett JT.
Miller DE, et al.
Am J Med Genet A. 2020 Mar;182(3):543-547. doi: 10.1002/ajmg.a.61442. Epub 2019 Dec 8.
Am J Med Genet A. 2020.
PMID: 31814264
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Congenital virilization of female infants recognized after pregnancies with retained levonorgestrel intrauterine devices.
Hougen HY, Seideman CA, Adam MP, Amies Oelschlager AM, Fechner PY, Ramsell L, Shnorhavorian M, Squire A, Austin JC.
Hougen HY, et al.
J Pediatr Urol. 2020 Apr;16(2):241-243. doi: 10.1016/j.jpurol.2020.03.008. Epub 2020 Mar 20.
J Pediatr Urol. 2020.
PMID: 32265103
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ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM.
Thomas AX, et al. Among authors: squire ae.
Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24.
Ann Clin Transl Neurol. 2022.
PMID: 35871307
Free PMC article.
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Panels, Exomes, Genomes, and More-Finding the Best Path Through the Diagnostic Odyssey.
Lenahan AL, Squire AE, Miller DE.
Lenahan AL, et al. Among authors: squire ae.
Pediatr Clin North Am. 2023 Oct;70(5):905-916. doi: 10.1016/j.pcl.2023.06.001. Epub 2023 Jul 11.
Pediatr Clin North Am. 2023.
PMID: 37704349
Review.
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