MICHAEL WANGLER to Syndrome
This is a "connection" page, showing publications MICHAEL WANGLER has written about Syndrome.
Connection Strength
0.317
-
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2025 Jan; 197(1):e63849.
Score: 0.048
-
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
Score: 0.047
-
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 05; 42(5):577-591.
Score: 0.038
-
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.035
-
Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. Mol Genet Genomic Med. 2020 03; 8(3):e1130.
Score: 0.035
-
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.032
-
The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326.
Score: 0.031
-
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.
Score: 0.028
-
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9.
Score: 0.023