LORRAINE POTOCKI to Sequence Analysis, DNA
This is a "connection" page, showing publications LORRAINE POTOCKI has written about Sequence Analysis, DNA.
Connection Strength
0.285
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.085
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Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A. 2017 Feb; 173(2):541-545.
Score: 0.083
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Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2. Genomics. 1999 Apr 01; 57(1):180-2.
Score: 0.024
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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013 Nov; 45(11):1405-8.
Score: 0.017
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.016
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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet. 2013 Nov 01; 22(21):4339-48.
Score: 0.016
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.014
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.013
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Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet. 2003 Aug 01; 12(15):1823-37.
Score: 0.008
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Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet. 2001 Nov; 60(5):336-44.
Score: 0.007