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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. Rots D, et al. Among authors: o connor m. Am J Hum Genet. 2024 Jul 9:S0002-9297(24)00214-3. doi: 10.1016/j.ajhg.2024.06.008. Online ahead of print. Am J Hum Genet. 2024. PMID: 39013458
Cognition Mediates the Association Between Cerebrospinal Fluid Biomarkers of Amyloid and P-Tau and Neuropsychiatric Symptoms.
Frank B, Walsh M, Hurley L, Groh J, Blennow K, Zetterberg H, Tripodis Y, Budson AE, O'Connor MK, Martin B, Weller J, McKee A, Qiu W, Stein TD, Stern RA, Mez J, Henson R, Long J, Aschenbrenner AJ, Babulal GM, Morris JC, Schindler S, Alosco ML. Frank B, et al. Among authors: o connor mk. J Alzheimers Dis. 2024 Jul 6. doi: 10.3233/JAD-240125. Online ahead of print. J Alzheimers Dis. 2024. PMID: 38995786
Burkholderia cepacia complex in primary ciliary dyskinesia.
Muñiz-Hernández J, Kaspy KR, Landry JS, Shapiro AJ, O'Connor MG, Leigh MW, De Jesús-Rojas W. Muñiz-Hernández J, et al. Among authors: o connor mg. Pediatr Pulmonol. 2024 Jun 24. doi: 10.1002/ppul.27119. Online ahead of print. Pediatr Pulmonol. 2024. PMID: 38923869 No abstract available.
3,387 results