JULIE GASTIER-FOSTER to Phenotype
This is a "connection" page, showing publications JULIE GASTIER-FOSTER has written about Phenotype.
Connection Strength
0.303
-
Expanding the spectrum of CEP55-associated disease to viable phenotypes. Am J Med Genet A. 2020 05; 182(5):1201-1208.
Score: 0.087
-
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 03; 182(3):557-560.
Score: 0.021
-
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. Eur J Med Genet. 2020 Mar; 63(3):103735.
Score: 0.021
-
Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019 03 21; 133(12):1313-1324.
Score: 0.020
-
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. Cell Rep. 2018 04 03; 23(1):313-326.e5.
Score: 0.019
-
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant. Eur J Med Genet. 2018 Jul; 61(7):416-420.
Score: 0.019
-
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med. 2016 Jan 14; 374(2):135-45.
Score: 0.016
-
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. Lancet Oncol. 2015 Dec; 16(16):1659-66.
Score: 0.016
-
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster. Eur J Hum Genet. 2014 Jan; 22(1):105-9.
Score: 0.014
-
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet. 2013 Feb 07; 92(2):210-20.
Score: 0.013
-
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 07; 89(4):551-63.
Score: 0.012
-
Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. Am J Med Genet A. 2010 Dec; 152A(12):3148-53.
Score: 0.011
-
Novel diagnostic features of dysferlinopathies. Muscle Nerve. 2010 Jul; 42(1):14-21.
Score: 0.011
-
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12; 86(3):454-61.
Score: 0.011
-
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. Hum Mutat. 1999; 14(1):54-66.
Score: 0.005
-
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998 Jun; 19(2):140-7.
Score: 0.005