LINDSAY BURRAGE to Mutation
This is a "connection" page, showing publications LINDSAY BURRAGE has written about Mutation.
Connection Strength
0.833
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.195
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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 Oct; 173(10):2789-2794.
Score: 0.151
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13.
Score: 0.134
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A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.052
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Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations. Pediatr Pulmonol. 2022 01; 57(1):224-230.
Score: 0.050
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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6).
Score: 0.046
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Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review. Mol Genet Metab. 2019 12; 128(4):431-443.
Score: 0.044
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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2019 01; 44:58-64.
Score: 0.039
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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 Mar; 173(3):733-739.
Score: 0.036
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Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
Score: 0.028
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109.
Score: 0.012
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6.
Score: 0.011
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.010
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.009
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9.
Score: 0.008
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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: 0.008