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Items: 8

1.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DG, de Vries BB, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KL, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH.

Am J Hum Genet. 2016 May 5;98(5):963-70. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.

PMID:
27087320
2.

Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.

Gund C, Powis Z, Alcaraz W, Desai S, Baranano K.

Am J Med Genet A. 2016 May;170(5):1330-2. doi: 10.1002/ajmg.a.37580. Epub 2016 Feb 2.

PMID:
26834045
3.

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A.

Am J Med Genet A. 2016 Jan;170A(1):77-86. doi: 10.1002/ajmg.a.37369. Epub 2015 Sep 23.

4.

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

Tunovic S, Barañano KW, Barkovich JA, Strober JB, Jamal L, Slavotinek AM.

Am J Med Genet A. 2015 Nov;167A(11):2767-76. doi: 10.1002/ajmg.a.37249. Epub 2015 Jul 14.

PMID:
26174511
5.

Clinical whole exome sequencing in child neurology practice.

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A.

Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.

PMID:
25131622
6.

"Idiopathic" and "genetic" generalized epilepsies intersect.

Krauss G, Barañano K.

Epilepsy Curr. 2014 Mar;14(2):81-3. doi: 10.5698/1535-7597-14.2.81. No abstract available.

7.

Electroconvulsive therapy for catatonia in a boy with hydrocephalus and an arachnoid cyst.

Wachtel LE, Baranano K, Reti IM.

Pediatr Neurol. 2010 Jul;43(1):73-5. doi: 10.1016/j.pediatrneurol.2010.03.011.

PMID:
20682210
8.

The ketogenic diet: uses in epilepsy and other neurologic illnesses.

Barañano KW, Hartman AL.

Curr Treat Options Neurol. 2008 Nov;10(6):410-9.

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