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Page 1
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Duy PQ, Jux B, Zhao S, Mekbib KY, Dennis E, Dong W, Nelson-Williams C, Mehta NH, Shohfi JP, Juusola J, Allington G, Smith H, Marlin S, Belhous K, Monteleone B, Schaefer GB, Pisarska MD, Vásquez J, Estrada-Veras JI, Keren B, Mignot C, Flore LA, Palafoll IV, Alper SL, Lifton RP, Haider S, Moreno-De-Luca A, Jin SC, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: palafoll iv. Brain. 2024 Jun 4:awae175. doi: 10.1093/brain/awae175. Online ahead of print. Brain. 2024. PMID: 38833623
Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.
Cueto-González AM, Fernández-Álvarez P, Palafoll IV, Lasa-Aranzasti A, Vendrell Bayona T, Tizzano EF. Cueto-González AM, et al. Among authors: palafoll iv. Genet Med. 2022 Mar;24(3):754-756. doi: 10.1016/j.gim.2021.11.007. Epub 2021 Dec 6. Genet Med. 2022. PMID: 34906509 Free article. No abstract available.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Among authors: palafoll iv. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Staufner C, et al. Among authors: palafoll iv. Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25. Genet Med. 2020. PMID: 31761904 Free article.
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Sen P, et al. Among authors: palafoll iv. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23505205 Free PMC article.