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Page 1
Variants in DOCK3 cause developmental delay and hypotonia.
Wiltrout K, Ferrer A, van de Laar I, Namekata K, Harada T, Klee EW, Zimmerman MT, Cousin MA, Kempainen JL, Babovic-Vuksanovic D, van Slegtenhorst MA, Aarts-Tesselaar CD, Schnur RE, Andrews M, Shinawi M. Wiltrout K, et al. Among authors: ferrer a. Eur J Hum Genet. 2019 Aug;27(8):1225-1234. doi: 10.1038/s41431-019-0397-2. Epub 2019 Apr 11. Eur J Hum Genet. 2019. PMID: 30976111 Free PMC article.
Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes.
Mangaonkar AA, Ferrer A, Pinto E Vairo F, Cousin MA, Kuisle RJ, Klee EW, Kennedy CC, Peters SG, Scott JP, Utz JP, Baqir M, Sekiguchi H, Khan SP, Rodriguez V, Simonetto DA, Kamath PS, Abraham RS, Wylam ME, Patnaik MM. Mangaonkar AA, et al. Among authors: ferrer a. Mayo Clin Proc. 2018 Jul;93(7):834-839. doi: 10.1016/j.mayocp.2018.05.015. Mayo Clin Proc. 2018. PMID: 29976374 Free PMC article.
Three rare disease diagnoses in one patient through exome sequencing.
Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Ferrer A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004390. doi: 10.1101/mcs.a004390. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31427378 Free PMC article.
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.
Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R. Schultz-Rogers L, et al. Among authors: ferrer a. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004309. doi: 10.1101/mcs.a004309. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604776 Free PMC article.
Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.
Kotwal A, Ferrer A, Kumar R, Singh RJ, Murthy V, Schultz-Rogers L, Zimmermann M, Lanpher B, Zimmerman K, Stabach PR, Klee E, Braddock DT, Wermers RA. Kotwal A, et al. Among authors: ferrer a. J Bone Miner Res. 2020 Apr;35(4):662-670. doi: 10.1002/jbmr.3938. Epub 2020 Jan 16. J Bone Miner Res. 2020. PMID: 31826312 Free PMC article.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. Drivas TG, et al. Among authors: ferrer a. Eur J Hum Genet. 2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483341 Free PMC article.
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.
Saliba AN, Ferrer A, Gangat N, Pruthi RK, Tefferi A, Higgins A, Bezerra ED, Buglioni A, Salama ME, Klee EW, Pinto E Vairo F, Mangaonkar A, Majerus J, Chen D, Patnaik MM. Saliba AN, et al. Among authors: ferrer a. Br J Haematol. 2020 Sep;190(5):e316-e320. doi: 10.1111/bjh.16897. Epub 2020 Jun 22. Br J Haematol. 2020. PMID: 32567678 No abstract available.
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM. Schultz-Rogers L, et al. Among authors: ferrer a. Haematologica. 2021 Apr 1;106(4):1188-1192. doi: 10.3324/haematol.2020.259275. Haematologica. 2021. PMID: 32646888 Free PMC article. No abstract available.
1,093 results