WILLIAM CRAIGEN to Young Adult
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Young Adult.
Connection Strength
0.173
-
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
Score: 0.016
-
Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-?C in clear cell Renal Cell Carcinoma patients. Theranostics. 2020; 10(6):2696-2713.
Score: 0.016
-
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.015
-
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Clin Genet. 2018 05; 93(5):1097-1102.
Score: 0.014
-
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug; 10(4).
Score: 0.013
-
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.013
-
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420.
Score: 0.012
-
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn. 2016 05; 18(3):446-453.
Score: 0.012
-
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with a-dystroglycanopathy. Eur J Hum Genet. 2014 Apr; 22(4):486-91.
Score: 0.010
-
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93.
Score: 0.010
-
SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat. 2012 Aug; 33(8):1192-200.
Score: 0.009
-
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 Apr; 105(4):607-14.
Score: 0.009
-
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet. 2011 Dec; 56(12):834-9.
Score: 0.009
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.008
-
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. 2009 Oct; 10(4):363-9.
Score: 0.007