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| 33953399 | A high-quality bonobo genome refines the analysis of hominid evolution. | Nature | 2021 |
| 33828295 | The structure, function and evolution of a complete human chromosome 8. | Nature | 2021 |
| 34464971 | Alpha Satellite Insertion Close to an Ancestral Centromeric Region. | Mol Biol Evol | 2021 |
| 34433829 | Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. | Nat Commun | 2021 |
| 33828295 | The structure, function and evolution of a complete human chromosome 8. | Nature | 2021 |
| 34433829 | Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. | Nat Commun | 2021 |
| 34464971 | Alpha Satellite Insertion Close to an Ancestral Centromeric Region. | Mol Biol Evol | 2021 |
| 32778141 | An evolutionary driver of interspersed segmental duplications in primates. | Genome Biol | 2020 |
| 31711268 | Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. | Ann Hum Genet | 2020 |
| 32778141 | An evolutionary driver of interspersed segmental duplications in primates. | Genome Biol | 2020 |
| 31711268 | Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads. | Ann Hum Genet | 2020 |
| 30504930 | Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. | Genet Med | 2019 |
| 31624180 | Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes. | Science | 2019 |
| 30504930 | Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. | Genet Med | 2019 |
| 31624180 | Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes. | Science | 2019 |
| 29209020 | A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. | Eur J Hum Genet | 2018 |
| 29880660 | High-resolution comparative analysis of great ape genomes. | Science | 2018 |
| 30564305 | Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. | Mol Autism | 2018 |
| 30224652 | Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. | Nat Genet | 2018 |
| 29674745 | Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. | Nat Genet | 2018 |
| 29209020 | A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. | Eur J Hum Genet | 2018 |
| 29686068 | Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (<i>CFH</i>) gene family. | Proc Natl Acad Sci U S A | 2018 |
| 29358652 | The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. | Nat Genet | 2018 |
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| 30224652 | Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. | Nat Genet | 2018 |
| 30564305 | Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. | Mol Autism | 2018 |
| 29674745 | Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. | Nat Genet | 2018 |
| 29358652 | The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution. | Nat Genet | 2018 |
| 29686068 | Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (<i>CFH</i>) gene family. | Proc Natl Acad Sci U S A | 2018 |
| 28580430 | The evolution and population diversity of human-specific segmental duplications. | Nat Ecol Evol | 2017 |
| 28580430 | The evolution and population diversity of human-specific segmental duplications. | Nat Ecol Evol | 2017 |
| 28279197 | The birth of a human-specific neural gene by incomplete duplication and gene fusion. | Genome Biol | 2017 |
| 28279197 | The birth of a human-specific neural gene by incomplete duplication and gene fusion. | Genome Biol | 2017 |
| 27034376 | Long-read sequence assembly of the gorilla genome. | Science | 2016 |
| 26749308 | Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. | Am J Hum Genet | 2016 |
| 26749307 | Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. | Am J Hum Genet | 2016 |
| 27034376 | Long-read sequence assembly of the gorilla genome. | Science | 2016 |
| 27487209 | Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. | Nature | 2016 |
| 27803192 | Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. | Genome Res | 2016 |
| 27803192 | Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. | Genome Res | 2016 |
| 27487209 | Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. | Nature | 2016 |
| 26749308 | Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. | Am J Hum Genet | 2016 |
| 26749307 | Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. | Am J Hum Genet | 2016 |
| 25961944 | Excess of rare, inherited truncating mutations in autism. | Nat Genet | 2015 |
| 25961944 | Excess of rare, inherited truncating mutations in autism. | Nat Genet | 2015 |
| 26249230 | Global diversity, population stratification, and selection of human copy-number variation. | Science | 2015 |
| 26249230 | Global diversity, population stratification, and selection of human copy-number variation. | Science | 2015 |
| 24998929 | Disruptive CHD8 mutations define a subtype of autism early in development. | Cell | 2014 |
| 25418537 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk. | Nat Commun | 2014 |