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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 1
2000 1
2004 1
2011 1
2012 3
2013 2
2014 1
2015 2
2016 3
2017 4
2018 2
2019 1
2020 2
2021 1
2023 1
2024 3

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25 results

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Page 1
Spinal Muscular Atrophy.
Prior TW, Leach ME, Finanger E. Prior TW, et al. Among authors: leach me. 2000 Feb 24 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Feb 24 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301526 Free Books & Documents. Review.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: leach me. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: leach me. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Hypoglycemia in patients with congenital muscle disease.
Hayes LH, Yun P, Mohassel P, Norato G, Donkervoort S, Leach ME, Alvarez R, Rutkowski A, Shaw ND, Foley AR, Bönnemann CG. Hayes LH, et al. Among authors: leach me. BMC Pediatr. 2020 Feb 6;20(1):57. doi: 10.1186/s12887-020-1909-5. BMC Pediatr. 2020. PMID: 32028919 Free PMC article.
Reactive intracordal fibrovascular lesion.
Leach ME, Blumin JH, He C, Bock JM. Leach ME, et al. Ear Nose Throat J. 2012 Feb;91(2):54-6. doi: 10.1177/014556131209100204. Ear Nose Throat J. 2012. PMID: 22359128 Free PMC article. No abstract available.
Medical malpractice and corticosteroid use.
Nash JJ, Nash AG, Leach ME, Poetker DM. Nash JJ, et al. Among authors: leach me. Otolaryngol Head Neck Surg. 2011 Jan;144(1):10-5. doi: 10.1177/0194599810390470. Otolaryngol Head Neck Surg. 2011. PMID: 21493380
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: leach me. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A. Natera-de Benito D, et al. Among authors: leach me. Neurology. 2021 Mar 9;96(10):e1413-e1424. doi: 10.1212/WNL.0000000000011499. Epub 2021 Jan 13. Neurology. 2021. PMID: 33441455 Free PMC article.
Sentinel injuries in infants evaluated for child physical abuse.
Sheets LK, Leach ME, Koszewski IJ, Lessmeier AM, Nugent M, Simpson P. Sheets LK, et al. Among authors: leach me. Pediatrics. 2013 Apr;131(4):701-7. doi: 10.1542/peds.2012-2780. Epub 2013 Mar 11. Pediatrics. 2013. PMID: 23478861
25 results