Jim C Mullikin
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Explore the profile of Jim C Mullikin including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
202
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0
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Recent Articles
1.
Strongin A, Heller T, Doherty D, Glass I, Parisi M, Bryant J, et al.
J Pediatr Gastroenterol Nutr
. 2017 Nov;
66(3):428-435.
PMID: 29112083
Background And Aims: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. This study characterizes...
2.
Summers A, Snow J, Wiggs E, Liu A, Toro C, Poretti A, et al.
Am J Med Genet A
. 2017 May;
173(7):1796-1812.
PMID: 28497568
Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles...
3.
Poretti A, Snow J, Summers A, Tekes A, Huisman T, Aygun N, et al.
J Med Genet
. 2017 Jan;
54(8):521-529.
PMID: 28087721
Background: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular...
4.
Justice C, Bishop K, Carrington B, Mullikin J, Swindle K, Marosy B, et al.
G3 (Bethesda)
. 2016 May;
6(6):1707-12.
PMID: 27172222
Because of genetic heterogeneity present in idiopathic scoliosis, we previously defined clinical subsets (a priori) from a sample of families with idiopathic scoliosis to find genes involved with spinal curvature....
5.
Biesecker L, Shianna K, Mullikin J
Genome Biol
. 2011 Sep;
12(9):128.
PMID: 21920051
To complement our special issue on exome sequencing, Genome Biology asked several leaders in the field for their views on this new approach. Leslie G Biesecker (LGB), Jim C Mullikin...
6.
Gunay-Aygun M, Falik-Zaccai T, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, et al.
Nat Genet
. 2011 Jul;
43(8):732-4.
PMID: 21765412
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes...
7.
Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, et al.
Blood
. 2010 Aug;
116(23):4990-5001.
PMID: 20709904
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical gray platelets on peripheral smears. GPS is associated with a...