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Page 1
Long term survival of an infant with sirenomelia.
Clarke LA, Stringer DA, Fraser GC, Yong SL. Clarke LA, et al. Am J Med Genet. 1993 Feb 1;45(3):292-6. doi: 10.1002/ajmg.1320450303. Am J Med Genet. 1993. PMID: 8434614 Review.
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E. Tyson C, et al. Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23. Mol Cytogenet. 2008. PMID: 19000322 Free PMC article.
Fetal progeria: prenatal sonographic findings in petty syndrome.
Pugash D, Schrader KA, Dunham CP, Popescu OE, Sargent MA, Lehman AM, Yong SL, Clarke LA. Pugash D, et al. Among authors: clarke la. J Ultrasound Med. 2013 May;32(5):881-3. doi: 10.7863/ultra.32.5.881. J Ultrasound Med. 2013. PMID: 23620331 No abstract available.
Mobile element insertion detection in 89,874 clinical exomes.
Torene RI, Galens K, Liu S, Arvai K, Borroto C, Scuffins J, Zhang Z, Friedman B, Sroka H, Heeley J, Beaver E, Clarke L, Neil S, Walia J, Hull D, Juusola J, Retterer K. Torene RI, et al. Genet Med. 2020 May;22(5):974-978. doi: 10.1038/s41436-020-0749-x. Epub 2020 Jan 22. Genet Med. 2020. PMID: 31965078 Free PMC article.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, … See abstract for full author list ➔ Castilla-Vallmanya L, et al. Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7. Genet Med. 2020. PMID: 32376980 Free PMC article.
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Chin HL, Gazzaz N, Huynh S, Handra I, Warnock L, Moller-Hansen A, Boerkoel P, Jacobsen JOB, du Souich C, Zhang N, Shefchek K, Prentice LM, Washington N, Haendel M, Armstrong L, Clarke L, Li WL, Smedley D, Robinson PN, Boerkoel CF. Chin HL, et al. Genet Med. 2022 Jul;24(7):1512-1522. doi: 10.1016/j.gim.2022.03.013. Epub 2022 Apr 19. Genet Med. 2022. PMID: 35442193 Free PMC article.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study; van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Duncan AR, et al. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. Am J Hum Genet. 2021. PMID: 34186028 Free PMC article.
175 results