SARAH ELSEA to Mutation
This is a "connection" page, showing publications SARAH ELSEA has written about Mutation.
Connection Strength
1.410
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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470.
Score: 0.196
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Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. Eur J Med Genet. 2009 Jul-Aug; 52(4):224-8.
Score: 0.113
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Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Mamm Genome. 2008 Apr; 19(4):246-62.
Score: 0.108
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Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population. Community Genet. 2005; 8(3):173-9.
Score: 0.086
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Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8.
Score: 0.076
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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 09; 41(9):1469-1487.
Score: 0.063
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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761.
Score: 0.061
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Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Am J Med Genet A. 2019 10; 179(10):2138-2143.
Score: 0.059
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Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics. BMC Genomics. 2019 May 21; 20(1):395.
Score: 0.058
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Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. Am J Med Genet A. 2019 05; 179(5):782-791.
Score: 0.058
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Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019 05; 42(3):509-518.
Score: 0.058
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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum Mutat. 2017 12; 38(12):1774-1785.
Score: 0.052
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Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Dev Period Med. 2015 Apr-Jun; 19(2):149-56.
Score: 0.044
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Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet. 2012 Jun 08; 90(6):941-9.
Score: 0.036
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 2006 Jul; 8(7):417-27.
Score: 0.024
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Brachydactyly A1: new relatives for old families? J Genet. 2005 Aug; 84(2):95-8.
Score: 0.022
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A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder. Am J Med Genet A. 2025 Nov; 197(11):e64177.
Score: 0.022
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Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. Am J Med Genet A. 2025 Jun; 197(6):e64014.
Score: 0.022
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.018
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A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268.
Score: 0.017
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An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. Int J Mol Sci. 2020 Nov 27; 21(23).
Score: 0.016
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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
Score: 0.016
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Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. CNS Drugs. 2020 07; 34(7):723-730.
Score: 0.016
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Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. Mol Genet Genomic Med. 2020 08; 8(8):e1318.
Score: 0.016
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Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression. Elife. 2020 04 09; 9.
Score: 0.016
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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. 2020 04; 133:115219.
Score: 0.015
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Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy. Am J Med Genet A. 2019 06; 179(6):1015-1019.
Score: 0.014
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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019 04; 95(4):462-478.
Score: 0.014
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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 08; 121(4):314-319.
Score: 0.013
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Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. 2017 Sep - Oct; 5(5):1344-1350.e3.
Score: 0.013
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Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74.
Score: 0.012
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Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30.
Score: 0.011
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Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay. J Autism Dev Disord. 2015 Jan; 45(1):100-10.
Score: 0.011
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Improved standards for prenatal diagnosis of citrullinemia. Mol Genet Metab. 2014 Jul; 112(3):205-9.
Score: 0.010
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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: 0.010
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Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast. J Biol Chem. 1992 Jul 05; 267(19):13150-3.
Score: 0.009
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New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007 Apr; 20(2):125-34.
Score: 0.006