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| 37972748 | Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1. | Am J Ophthalmol | 2024 |
| 37972748 | Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1. | Am J Ophthalmol | 2024 |
| 36942736 | Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. | Am J Med Genet A | 2023 |
| 37663545 | Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome. | HGG Adv | 2023 |
| 36713248 | Beyond the exome: what's next in diagnostic testing for Mendelian conditions. | ArXiv | 2023 |
| 37457373 | Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects. | HGG Adv | 2023 |
| 36945405 | Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects. | medRxiv | 2023 |
| 36942736 | Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. | Am J Med Genet A | 2023 |
| 37181331 | <i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder. | HGG Adv | 2023 |
| 37541186 | Beyond the exome: What's next in diagnostic testing for Mendelian conditions. | Am J Hum Genet | 2023 |
| 37663545 | Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome. | HGG Adv | 2023 |
| 37541186 | Beyond the exome: What's next in diagnostic testing for Mendelian conditions. | Am J Hum Genet | 2023 |
| 37457373 | Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects. | HGG Adv | 2023 |
| 36945405 | Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects. | medRxiv | 2023 |
| 37181331 | <i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder. | HGG Adv | 2023 |
| 36713248 | Beyond the exome: what's next in diagnostic testing for Mendelian conditions. | ArXiv | 2023 |
| 35191117 | Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Hum Mutat | 2022 |
| 35716026 | Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. | Am J Med Genet A | 2022 |
| 35191117 | Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Hum Mutat | 2022 |
| 35716026 | Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. | Am J Med Genet A | 2022 |
| 33279834 | Exome-wide rare variant analysis in familial essential tremor. | Parkinsonism Relat Disord | 2021 |
| 33536625 | Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 34216551 | Targeted long-read sequencing identifies missing disease-causing variation. | Am J Hum Genet | 2021 |
| 33279834 | Exome-wide rare variant analysis in familial essential tremor. | Parkinsonism Relat Disord | 2021 |
| 35047842 | Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta. | HGG Adv | 2021 |
| 35047840 | Centering Equity in <i>Human Genetics and Genomics Advances</i>. | HGG Adv | 2021 |
| 34373650 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33536625 | Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 35047842 | Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta. | HGG Adv | 2021 |
| 35047840 | Centering Equity in <i>Human Genetics and Genomics Advances</i>. | HGG Adv | 2021 |
| 34216551 | Targeted long-read sequencing identifies missing disease-causing variation. | Am J Hum Genet | 2021 |
| 34373650 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 32424177 | Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. | Genet Med | 2020 |
| 32424177 | Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. | Genet Med | 2020 |
| 31723249 | De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. | Genet Med | 2020 |
| 32461654 | The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2020 |
| 32707087 | Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. | Am J Hum Genet | 2020 |
| 33242826 | Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. | EBioMedicine | 2020 |
| 33275912 | Response to Hall et al. | Am J Hum Genet | 2020 |
| 31723249 | De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. | Genet Med | 2020 |
| 33275912 | Response to Hall et al. | Am J Hum Genet | 2020 |
| 33242826 | Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. | EBioMedicine | 2020 |
| 32707087 | Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. | Am J Hum Genet | 2020 |
| 32461654 | The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2020 |
| 30511478 | Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. | Genet Epidemiol | 2019 |
| 30511478 | Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. | Genet Epidemiol | 2019 |
| 31491408 | Mendelian Gene Discovery: Fast and Furious with No End in Sight. | Am J Hum Genet | 2019 |
| 30742678 | Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1. | PLoS Pathog | 2019 |
| 31215115 | Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. | Hum Mutat | 2019 |
| 31328417 | Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. | Birth Defects Res | 2019 |