Research output per year
Research output per year
Search results
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Comment/debate
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Genetics in Medicine, (2021), 23, 10, (1922-1932), 10.1038/s41436-021-01232-8)
Undiagnosed Diseases Network, Oct 2021, In: Genetics in Medicine. 23, 10, p. 2016 1 p.Research output: Contribution to journal › Comment/debate
Open Access -
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine (2021) 23(4) (740–750), (S1098360021024461), (10.1038/s41436-020-01027-3))
Undiagnosed Diseases Network, Dec 2021, In: Genetics in Medicine. 23, 12, p. 2467 1 p.Research output: Contribution to journal › Comment/debate
Open Access1 Scopus citations -
Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014))
Undiagnosed Diseases Network, Sep 5 2019, In: American journal of human genetics. 105, 3, p. 672-674 3 p.Research output: Contribution to journal › Comment/debate
Open Access6 Scopus citations -
One is the loneliest number: genotypic matchmaking using the electronic health record
Undiagnosed Diseases Network, Oct 2021, In: Genetics in Medicine. 23, 10, p. 1830-1832 3 p.Research output: Contribution to journal › Comment/debate
Open Access4 Scopus citations