Gleeson JG - Search Results

1

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Õunap K, Salton M, Mor-Shaked H. Engal E, et al. Among authors: gleeson jg. Am J Hum Genet. 2023 Dec 7;110(12):2112-2119. doi: 10.1016/j.ajhg.2023.10.013. Epub 2023 Nov 13. Am J Hum Genet. 2023. PMID: 37963460

2

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.

Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Gleeson JG, et al. Am J Hum Genet. 2000 Sep;67(3):574-81. doi: 10.1086/303043. Epub 2000 Jul 27. Am J Hum Genet. 2000. PMID: 10915612 Free PMC article.

3

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. Dixon-Salazar T, et al. Among authors: gleeson jg. Am J Hum Genet. 2004 Dec;75(6):979-87. doi: 10.1086/425985. Epub 2004 Oct 4. Am J Hum Genet. 2004. PMID: 15467982 Free PMC article.

4

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Zaki M, et al. Among authors: gleeson jg. Am J Med Genet A. 2007 May 1;143A(9):939-44. doi: 10.1002/ajmg.a.31667. Am J Med Genet A. 2007. PMID: 17431900

5

Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

Zaki MS, Afifi HH, Barkovich AJ, Gleeson JG. Zaki MS, et al. Among authors: gleeson jg. Am J Med Genet A. 2009 Aug;149A(8):1789-94. doi: 10.1002/ajmg.a.32983. Am J Med Genet A. 2009. PMID: 19610102 Free PMC article.

6

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Zaki MS, et al. Among authors: gleeson jg. Brain. 2012 Aug;135(Pt 8):2416-27. doi: 10.1093/brain/aws162. Epub 2012 Jul 20. Brain. 2012. PMID: 22822038 Free PMC article.

7

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG. Abdel-Salam GM, et al. Among authors: gleeson jg. Am J Med Genet A. 2012 Nov;158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991235 Free PMC article.

8

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: gleeson jg. 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.

9

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Radmanesh F, et al. Among authors: gleeson jg. Am J Hum Genet. 2013 Mar 7;92(3):468-74. doi: 10.1016/j.ajhg.2013.02.005. Am J Hum Genet. 2013. PMID: 23472759 Free PMC article.

10

Mutations in CSPP1 lead to classical Joubert syndrome.

Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG. Akizu N, et al. Among authors: gleeson jg. Am J Hum Genet. 2014 Jan 2;94(1):80-6. doi: 10.1016/j.ajhg.2013.11.015. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360807 Free PMC article.

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