|
| 37972748 | Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1. | Am J Ophthalmol | 2024 |
| 38041217 | SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome. | Am J Med Genet A | 2024 |
| 37972748 | Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1. | Am J Ophthalmol | 2024 |
| 38041217 | SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome. | Am J Med Genet A | 2024 |
| 36861389 | An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. | Clin Genet | 2023 |
| 37663545 | Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome. | HGG Adv | 2023 |
| 37821758 | A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. | Eur J Hum Genet | 2023 |
| 37808736 | Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. | bioRxiv | 2023 |
| 37560121 | Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. | Neurol Genet | 2023 |
| 37217389 | Association of Pseudomonas aeruginosa infection stage with lung function trajectory in children with cystic fibrosis. | J Cyst Fibros | 2023 |
| 36713248 | Beyond the exome: what's next in diagnostic testing for Mendelian conditions. | ArXiv | 2023 |
| 37083955 | PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation. | Dis Model Mech | 2023 |
| 37457373 | Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects. | HGG Adv | 2023 |
| 37194416 | Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Ann Clin Transl Neurol | 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 |
| 37253099 | Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. | Brain | 2023 |
| 36798371 | Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. | bioRxiv | 2023 |
| 37181331 | <i>De novo</i> variants in <i>GATAD2A</i> in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder. | HGG Adv | 2023 |
| 36798092 | Guidelines for genetic ancestry inference created through roundtable discussions. | HGG Adv | 2023 |
| 36861389 | An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. | Clin Genet | 2023 |
| 36921087 | Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients. | Am J Respir Crit Care Med | 2023 |
| 37541186 | Beyond the exome: What's next in diagnostic testing for Mendelian conditions. | Am J Hum Genet | 2023 |
| 37808736 | Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. | bioRxiv | 2023 |
| 37560121 | Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. | Neurol 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 |
| 37821758 | A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. | Eur J Hum Genet | 2023 |
| 37457373 | Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defects. | HGG Adv | 2023 |
| 37217389 | Association of Pseudomonas aeruginosa infection stage with lung function trajectory in children with cystic fibrosis. | J Cyst Fibros | 2023 |
| 37253099 | Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. | Brain | 2023 |
| 37083955 | PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation. | Dis Model Mech | 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 |
| 37194416 | Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Ann Clin Transl Neurol | 2023 |
| 36921087 | Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients. | Am J Respir Crit Care Med | 2023 |
| 36713248 | Beyond the exome: what's next in diagnostic testing for Mendelian conditions. | ArXiv | 2023 |
| 36798371 | Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. | bioRxiv | 2023 |
| 36798092 | Guidelines for genetic ancestry inference created through roundtable discussions. | HGG Adv | 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 |
| 34135477 | ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. | Eur J Hum Genet | 2022 |
| 35647563 | Accounting for population structure in genetic studies of cystic fibrosis. | HGG Adv | 2022 |
| 35567597 | Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome. | Am J Med Genet A | 2022 |
| 35627139 | <i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. | Genes (Basel) | 2022 |
| 35367162 | Club cell secretory protein and lung function in children with cystic fibrosis. | J Cyst Fibros | 2022 |
| 36267057 | Closing the loop: Editors' feedback on the ASHG readership survey. | HGG Adv | 2022 |
| 36198314 | MagicalRsq: Machine-learning-based genotype imputation quality calibration. | Am J Hum Genet | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 35716026 | Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. | Am J Med Genet A | 2022 |
| 35659931 | Closing the loop: Editors' feedback on the ASHG readership survey. | Am J Hum Genet | 2022 |