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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ, Alders M, Dingemans AJM, Parbhoo K, van Bon BW, Dempsey JC, Doherty D, den Dunnen JT, Gerkes EH, Milller IM, Moortgat S, Regier DS, Ruivenkamp CAL, Schmalz B, Smol T, Stuurman KE, Vincent-Delorme C, de Vries BBA, Sadikovic B, Hickey SE, Rosenfeld JA, Maystadt I, Santen GWE. van der Sluijs PJ, et al. Among authors: schmalz b. Genes (Basel). 2021 Aug 20;12(8):1275. doi: 10.3390/genes12081275. Genes (Basel). 2021. PMID: 34440449 Free PMC article.
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Hickey SE, et al. Among authors: schmalz ba. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836586 Free PMC article.
The promise of organ and tissue preservation to transform medicine.
Giwa S, Lewis JK, Alvarez L, Langer R, Roth AE, Church GM, Markmann JF, Sachs DH, Chandraker A, Wertheim JA, Rothblatt M, Boyden ES, Eidbo E, Lee WPA, Pomahac B, Brandacher G, Weinstock DM, Elliott G, Nelson D, Acker JP, Uygun K, Schmalz B, Weegman BP, Tocchio A, Fahy GM, Storey KB, Rubinsky B, Bischof J, Elliott JAW, Woodruff TK, Morris GJ, Demirci U, Brockbank KGM, Woods EJ, Ben RN, Baust JG, Gao D, Fuller B, Rabin Y, Kravitz DC, Taylor MJ, Toner M. Giwa S, et al. Among authors: schmalz b. Nat Biotechnol. 2017 Jun 7;35(6):530-542. doi: 10.1038/nbt.3889. Nat Biotechnol. 2017. PMID: 28591112 Free PMC article. Review.
Newborn and carrier screening for spinal muscular atrophy.
Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S. Prior TW, et al. Among authors: schmalz b. Am J Med Genet A. 2010 Jul;152A(7):1608-16. doi: 10.1002/ajmg.a.33474. Am J Med Genet A. 2010. PMID: 20578137
Are ovine Leydig cells able to aromatize androgens?
Bilińska B, Leśniak M, Schmalz B. Bilińska B, et al. Among authors: schmalz b. Reprod Fertil Dev. 1997;9(2):193-9. doi: 10.1071/r96038. Reprod Fertil Dev. 1997. PMID: 9208429