James Francis Gusella, Ph.D.
Co-Author
This page shows the publications co-authored by James Gusella and Cynthia Morton.
Connection Strength
2.293
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Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis. Am J Hum Genet. 2016 Nov 03; 99(5):1015-1033.
Score: 0.170
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Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay. Eur J Hum Genet. 2016 11; 24(11):1622-1626.
Score: 0.167
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Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet. 2014 May 01; 94(5):695-709.
Score: 0.143
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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet. 2013 May; 132(5):537-52.
Score: 0.132
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Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 06; 367(23):2226-32.
Score: 0.130
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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
Score: 0.127
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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37.
Score: 0.125
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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research. Am J Hum Genet. 2011 Apr 08; 88(4):469-81.
Score: 0.116
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Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide. Int J Neuropsychopharmacol. 2010 May; 13(4):527-8.
Score: 0.105
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Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet. 2008 Mar; 82(3):712-22.
Score: 0.094
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Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan; 82(1):199-207.
Score: 0.093
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Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. Am J Hum Genet. 2007 Apr; 80(4):792-9.
Score: 0.087
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Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A. 2007 Jan 15; 143A(2):107-11.
Score: 0.087
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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet. 2005 Aug; 42(8):666-72.
Score: 0.078
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Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 05 26; 49(6):969.
Score: 0.044
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Cover Image, Volume 173A, Number 2, February 2017. Am J Med Genet A. 2017 Feb; 173(2):i.
Score: 0.044
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.
Score: 0.043
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45.
Score: 0.043
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Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A. 2017 Feb; 173(2):395-406.
Score: 0.043
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Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. Hum Mol Genet. 2016 Apr 01; 25(7):1255-70.
Score: 0.040
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MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015 Apr 15; 24(8):2375-89.
Score: 0.038
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry. 2014 Mar; 19(3):368-79.
Score: 0.033
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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: 0.033
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Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012 Dec 07; 91(6):1128-34.
Score: 0.033
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Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec; 69(12):1238-46.
Score: 0.033
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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 2012 Apr; 33(4):728-40.
Score: 0.031
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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet. 2012 Mar 04; 44(4):390-7, S1.
Score: 0.031
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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: 0.030
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The cell adhesion gene PVRL3 is associated with congenital ocular defects. Hum Genet. 2012 Feb; 131(2):235-50.
Score: 0.030
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Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am J Med Genet A. 2007 Aug 01; 143A(15):1796-8.
Score: 0.023
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NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80.
Score: 0.022
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Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32.
Score: 0.022
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Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72.
Score: 0.017
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Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. Am J Hum Genet. 1988 Oct; 43(4):511-9.
Score: 0.006
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.