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Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium. Kilich G, et al. Among authors: conlin l. NPJ Genom Med. 2024 Jan 11;9(1):5. doi: 10.1038/s41525-023-00389-2. NPJ Genom Med. 2024. PMID: 38212313 Free PMC article.
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. Akizu N, et al. Among authors: conlin lk. Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453666 Free PMC article.
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA. Li F, et al. Among authors: conlin lk. Eur J Med Genet. 2010 Mar-Apr;53(2):93-9. doi: 10.1016/j.ejmg.2010.01.004. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132918
110 results