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UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.
de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP. de Leeuw N, et al. Among authors: baker la. Am J Med Genet A. 2010 Dec;152A(12):3084-90. doi: 10.1002/ajmg.a.33743. Am J Med Genet A. 2010. PMID: 21108393
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA. Harrison SM, et al. Among authors: baker la. Am J Med Genet A. 2013 Oct;161A(10):2487-94. doi: 10.1002/ajmg.a.36084. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918653 Free PMC article.
Copy number variations in a population with prune belly syndrome.
Iqbal NS, Jascur TA, Harrison S, Chen C, Arevalo MK, Wong D, Sanchez E, Grimsby G, Wilson K, Baker LA. Iqbal NS, et al. Among authors: baker la. Am J Med Genet A. 2018 Nov;176(11):2276-2283. doi: 10.1002/ajmg.a.40476. Epub 2018 Oct 4. Am J Med Genet A. 2018. PMID: 30285310 Free PMC article.
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. Gauthier J, et al. Among authors: baker la. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407000 Free PMC article.
An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.
Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N. Solomon BD, et al. Among authors: baker la. J Pediatr. 2014 Mar;164(3):451-7.e1. doi: 10.1016/j.jpeds.2013.10.086. Epub 2013 Dec 12. J Pediatr. 2014. PMID: 24332453 Free PMC article. Review. No abstract available.
522 results