Co-Authors
This is a "connection" page, showing publications co-authored by JAMES LUPSKI and WILLIAM CRAIGEN.
Connection Strength
0.460
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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: 0.091
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36.
Score: 0.063
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.040
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Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug; 10(4).
Score: 0.039
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 04 06; 100(4):689.
Score: 0.038
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Score: 0.037
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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: 0.036
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Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
Score: 0.032
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.032
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.027
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.018
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De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50.
Score: 0.008