Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Kidney International
2022
101
6
1126-1141
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences
Nature Genetics
2019
51
2
245-257
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Nature Communications
2019
10
1
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet
2022
141
2
257-272
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
EBioMedicine
2022
77
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
2022
43
3
403-419
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet
2022
54
3
349-357
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function.
Nat Genet
2022
54
1
18-29
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
2022
38
11
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Epilepsia
2022
63
4
e35-e41