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| 34780871 | Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations. | Kidney Int | 2022 |
| 36044182 | Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress. | Hormones (Athens) | 2022 |
| 36076307 | Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research. | Hum Genomics | 2022 |
| 34780871 | Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations. | Kidney Int | 2022 |
| 36044182 | Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress. | Hormones (Athens) | 2022 |
| 36076307 | Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research. | Hum Genomics | 2022 |
| 33169370 | A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. | Clin Genet | 2021 |
| 33812298 | Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. | Curr Opin Genet Dev | 2021 |
| 33811806 | Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. | Am J Hum Genet | 2021 |
| 33855352 | Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. | Brain | 2021 |
| 33602914 | Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae. | Nat Commun | 2021 |
| 33169370 | A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. | Clin Genet | 2021 |
| 34647195 | A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. | Hum Genet | 2021 |
| 33602914 | Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae. | Nat Commun | 2021 |
| 33812298 | Dissecting the complexity of CNV pathogenicity: insights from Drosophila and zebrafish models. | Curr Opin Genet Dev | 2021 |
| 33811806 | Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. | Am J Hum Genet | 2021 |
| 33855352 | Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. | Brain | 2021 |
| 34647195 | A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. | Hum Genet | 2021 |
| 31550240 | SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. | J Clin Invest | 2020 |
| 32307552 | Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. | Hum Mol Genet | 2020 |
| 32386558 | Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. | Am J Hum Genet | 2020 |
| 32703943 | Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. | Nat Commun | 2020 |
| 33139725 | CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. | Nat Commun | 2020 |
| 33131181 | Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. | Hum Mutat | 2020 |
| 32620954 | TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. | Hum Mol Genet | 2020 |
| 33214552 | PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. | Nat Commun | 2020 |
| 31550240 | SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. | J Clin Invest | 2020 |
| 33139725 | CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. | Nat Commun | 2020 |
| 33214552 | PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. | Nat Commun | 2020 |
| 33131181 | Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. | Hum Mutat | 2020 |
| 32703943 | Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. | Nat Commun | 2020 |
| 32620954 | TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. | Hum Mol Genet | 2020 |
| 32307552 | Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. | Hum Mol Genet | 2020 |
| 32386558 | Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. | Am J Hum Genet | 2020 |
| 29728705 | Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. | Mol Psychiatry | 2019 |
| 31796115 | Genetics and functions of the retinoic acid pathway, with special emphasis on the eye. | Hum Genomics | 2019 |
| 31681410 | Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation. | Front Genet | 2019 |
| 31723061 | Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. | JCI Insight | 2019 |
| 31553903 | Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. | Cell Rep | 2019 |
| 30591527 | Loss-of-function mutations in <i>PTPRJ</i> cause a new form of inherited thrombocytopenia. | Blood | 2019 |
| 30590535 | Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. | Hum Mol Genet | 2019 |
| 30609410 | Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. | Am J Hum Genet | 2019 |
| 29728705 | Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. | Mol Psychiatry | 2019 |
| 31188077 | Polyketide Synthase Plays a Conserved Role in Otolith Formation. | Zebrafish | 2019 |
| 31040214 | Genetic variation across the human olfactory receptor repertoire alters odor perception. | Proc Natl Acad Sci U S A | 2019 |
| 31508644 | Contactless, programmable acoustofluidic manipulation of objects on water. | Lab Chip | 2019 |
| 31036918 | Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. | Genet Med | 2019 |
| 31130285 | Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. | Am J Hum Genet | 2019 |
| 31079899 | Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. | Am J Hum Genet | 2019 |
| 30849329 | De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. | Am J Hum Genet | 2019 |