| # | Title | Journal | Year | Citations |
|---|
| 1 | Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease | Neuron | 2015 | 258 |
| 2 | Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity | Science | 2021 | 130 |
| 3 | Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center | Gastroenterology | 2020 | 81 |
| 4 | The Expansion of Heterotopic Bone in Fibrodysplasia Ossificans Progressiva Is Activin A-Dependent | Journal of Bone and Mineral Research | 2017 | 51 |
| 5 | Genomic diagnostics within a medically underserved population: efficacy and implications | Genetics in Medicine | 2018 | 47 |
| 6 | The obligatory role of Activin A in the formation of heterotopic bone in Fibrodysplasia Ossificans Progressiva | Bone | 2018 | 45 |
| 7 | Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions | American Journal of Human Genetics | 2017 | 44 |
| 8 | MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis | Brain | 2020 | 38 |
| 9 | De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures | Brain | 2019 | 29 |
| 10 | Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease | Scientific Reports | 2021 | 29 |
| 11 | Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide | European Journal of Human Genetics | 2020 | 27 |
| 12 | Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease | Human Molecular Genetics | 2019 | 22 |
| 13 | Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities | European Journal of Human Genetics | 2020 | 21 |
| 14 | Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay | American Journal of Human Genetics | 2018 | 18 |
| 15 | Identification of Undetected Monogenic Cardiovascular Disorders | Journal of the American College of Cardiology | 2020 | 17 |
| 16 | NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold | Brain | 2022 | 15 |
| 17 | De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation | American Journal of Human Genetics | 2020 | 14 |
| 18 | Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism | Bone | 2020 | 12 |
| 19 | Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US | American Journal of Human Genetics | 2020 | 12 |
| 20 | Exome-based investigation of the genetic basis of human pigmentary glaucoma | BMC Genomics | 2021 | 9 |
| 21 | Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity | American Journal of Human Genetics | 2022 | 8 |
| 22 | Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians | Journal of Clinical Endocrinology and Metabolism | 2020 | 6 |
| 23 | The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease | Scientific Reports | 2020 | 4 |
| 24 | Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial | Circulation Genomic and Precision Medicine | 2022 | 3 |
| 25 | Historical Overview of Gene Discovery Methodologies in Type 2 Diabetes | | 2016 | 1 |
| 26 | A Machine Learning Approach to Identifying Causal Monogenic Variants in Inflammatory Bowel Disease | | 2022 | 0 |
| 27 | Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia | Clinical Genetics | 2023 | 0 |
