Co-Authors
This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and MICHAEL WANGLER.
Connection Strength
0.757
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
Score: 0.178
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The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28.
Score: 0.164
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.142
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Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab. 2011 Jun; 103(2):153-60.
Score: 0.101
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Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A. 2022 09; 188(9):2718-2723.
Score: 0.055
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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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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.038
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351.
Score: 0.038