John L Tolmie
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Explore the profile of John L Tolmie including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
1955
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Recent Articles
1.
Houge G, Haesen D, Vissers L, Mehta S, Parker M, Wright M, et al.
J Clin Invest
. 2015 Jul;
125(8):3051-62.
PMID: 26168268
Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A)...
2.
Southgate L, Sukalo M, Karountzos A, Taylor E, Collinson C, Ruddy D, et al.
Circ Cardiovasc Genet
. 2015 May;
8(4):572-581.
PMID: 25963545
Background: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent...
3.
King D, Jones W, Crow Y, Dominiczak A, Foster N, Gaunt T, et al.
Hum Mol Genet
. 2015 Jan;
24(10):2733-45.
PMID: 25634561
Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present...
4.
Rice G, Del Toro Duany Y, Jenkinson E, Forte G, Anderson B, Ariaudo G, et al.
Nat Genet
. 2014 Apr;
46(5):503-509.
PMID: 24686847
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine...
5.
Anderson B, Kasher P, Mayer J, Szynkiewicz M, Jenkinson E, Bhaskar S, et al.
Nat Genet
. 2012 Jan;
44(3):338-42.
PMID: 22267198
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere...
6.
Tarpey P, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, et al.
Nat Genet
. 2009 Apr;
41(5):535-43.
PMID: 19377476
Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the...
7.
Mefford H, Sharp A, Baker C, Itsara A, Jiang Z, Buysse K, et al.
N Engl J Med
. 2008 Sep;
359(16):1685-99.
PMID: 18784092
Background: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic...
8.
Rice G, Patrick T, Parmar R, Taylor C, Aeby A, Aicardi J, et al.
Am J Hum Genet
. 2007 Sep;
81(4):713-25.
PMID: 17846997
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5'...
9.
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick D, Nurnberg G, et al.
Am J Hum Genet
. 2007 Feb;
80(3):550-60.
PMID: 17273977
We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one...
10.
Crow Y, Leitch A, Hayward B, Garner A, Parmar R, Griffith E, et al.
Nat Genet
. 2006 Jul;
38(8):910-6.
PMID: 16845400
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human...