Evan E. Eichler
#66,898
Most Influential Person Now
American scientist
Evan E. Eichler's AcademicInfluence.com Rankings
Evan E. Eichlerbiology Degrees
Biology
#3733
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#5670
Historical Rank
#1489
USA Rank
Genetics
#274
World Rank
#325
Historical Rank
#130
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Biology
Evan E. Eichler's Degrees
- PhD Genetics University of California, San Diego
- Bachelors Biological Sciences University of California, San Diego
Why Is Evan E. Eichler Influential?
(Suggest an Edit or Addition)According to Wikipedia, Evan E. Eichler is an investigator at Howard Hughes Medical Institute studying human genome evolution, genome variation and their role in diseases. He is also a Professor of Genome Sciences at the University of Washington School of Medicine, Seattle.
Evan E. Eichler's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Initial sequencing and analysis of the human genome. (2001) (15222)
- A global reference for human genetic variation (2015) (11857)
- Finding the missing heritability of complex diseases (2009) (7749)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD (2011) (3746)
- Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data (2013) (3472)
- A Draft Sequence of the Neandertal Genome (2010) (3419)
- Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (2004) (2417)
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010) (2348)
- Initial sequence of the chimpanzee genome and comparison with the human genome (2005) (2222)
- Genome sequence of the Brown Norway rat yields insights into mammalian evolution (2004) (2053)
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations (2012) (2002)
- The contribution of de novo coding mutations to autism spectrum disorder (2014) (1988)
- An integrated map of structural variation in 2,504 human genomes (2015) (1800)
- Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia (2008) (1764)
- The complete genome sequence of a Neandertal from the Altai Mountains (2013) (1644)
- Missing heritability and strategies for finding the underlying causes of complex disease (2010) (1643)
- A High-Coverage Genome Sequence from an Archaic Denisovan Individual (2012) (1587)
- Targeted capture and massively parallel sequencing of 12 human exomes (2009) (1536)
- Genetic history of an archaic hominin group from Denisova Cave in Siberia (2010) (1503)
- Recent Segmental Duplications in the Human Genome (2002) (1350)
- A comparative encyclopedia of DNA elements in the mouse genome (2014) (1337)
- Genome structural variation discovery and genotyping (2011) (1326)
- Evolutionary and Biomedical Insights from the Rhesus Macaque Genome (2007) (1309)
- A Copy Number Variation Morbidity Map of Developmental Delay (2011) (1198)
- Mapping and sequencing of structural variation from eight human genomes (2008) (1195)
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders (2012) (1140)
- Ancient human genomes suggest three ancestral populations for present-day Europeans (2013) (1082)
- Fine-scale structural variation of the human genome (2005) (1081)
- Mapping copy number variation by population scale genome sequencing (2010) (1057)
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011) (1025)
- Segmental duplications and copy-number variation in the human genome. (2005) (946)
- De novo mutations in the classic epileptic encephalopathies (2013) (923)
- The genome of a songbird (2010) (834)
- Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing (2009) (749)
- Great ape genetic diversity and population history (2013) (747)
- Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes (2009) (711)
- Genome analysis of the platypus reveals unique signatures of evolution (2008) (711)
- Limitations of next-generation genome sequence assembly (2011) (684)
- Resolving the complexity of the human genome using single-molecule sequencing (2014) (679)
- Diversity of Human Copy Number Variation and Multicopy Genes (2010) (670)
- Insights into hominid evolution from the gorilla genome sequence (2012) (670)
- Segmental duplications: organization and impact within the current human genome project assembly. (2001) (658)
- The complete sequence of a human genome (2021) (622)
- Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome (2006) (621)
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development (2014) (599)
- Population analysis of large copy number variants and hotspots of human genetic disease. (2009) (589)
- Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
- A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay (2010) (561)
- Copy number variation detection and genotyping from exome sequence data (2012) (555)
- Multi-platform discovery of haplotype-resolved structural variation in human genomes (2017) (550)
- Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. (2009) (549)
- Comparative and demographic analysis of orang-utan genomes (2011) (545)
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. (2017) (541)
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures (2008) (539)
- LINE-1 Retrotransposition Activity in Human Genomes (2010) (538)
- Refining analyses of copy number variation identifies specific genes associated with developmental delay (2014) (536)
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy (2009) (529)
- A comprehensive analysis of common copy-number variations in the human genome. (2007) (522)
- Phenotypic heterogeneity of genomic disorders and rare copy-number variants. (2012) (521)
- Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis (2009) (520)
- Excess of rare, inherited truncating mutations in autism (2015) (490)
- Length of uninterrupted CGG repeats determines instability in the FMR1 gene (1994) (478)
- Lineage-Specific Biology Revealed by a Finished Genome Assembly of the Mouse (2009) (472)
- A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. (2014) (464)
- Primate segmental duplications: crucibles of evolution, diversity and disease (2006) (462)
- The bonobo genome compared with the chimpanzee and human genomes (2012) (455)
- Telomere-to-telomere assembly of a complete human X chromosome (2019) (450)
- Complete Khoisan and Bantu genomes from southern Africa (2010) (448)
- An Alu transposition model for the origin and expansion of human segmental duplications. (2003) (446)
- Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies (2010) (444)
- Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. (2010) (431)
- The DNA sequence of human chromosome 7 (2003) (425)
- Segmental duplications and the evolution of the primate genome (2002) (417)
- A de novo convergence of autism genetics and molecular neuroscience (2014) (413)
- A high-coverage Neandertal genome from Vindija Cave in Croatia (2017) (410)
- The Tea Tree Genome Provides Insights into Tea Flavor and Independent Evolution of Caffeine Biosynthesis. (2017) (400)
- Structural Dynamics of Eukaryotic Chromosome Evolution (2003) (398)
- A genome-wide comparison of recent chimpanzee and human segmental duplications (2005) (396)
- Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases (2017) (392)
- Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. (2000) (390)
- Challenges and standards in integrating surveys of structural variation (2007) (390)
- De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. (2012) (356)
- Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. (2006) (340)
- Combinatorial Algorithms for Structural Variation Detection in High Throughput Sequenced Genomes (2009) (338)
- Recent duplication, domain accretion and the dynamic mutation of the human genome. (2001) (335)
- Long-read human genome sequencing and its applications (2020) (334)
- Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication (2012) (327)
- Noninvasive Whole-Genome Sequencing of a Human Fetus (2012) (326)
- Genetic variation and the de novo assembly of human genomes (2015) (324)
- Regional patterns of gene expression in human and chimpanzee brains. (2004) (323)
- Long-read sequence assembly of the gorilla genome (2016) (318)
- Integration of cytogenetic landmarks into the draft sequence of the human genome (2001) (316)
- Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis (2018) (312)
- Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution (2018) (310)
- Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes (2011) (306)
- Characterizing the Major Structural Variant Alleles of the Human Genome (2019) (305)
- mrsFAST: a cache-oblivious algorithm for short-read mapping (2010) (305)
- Gibbon genome and the fast karyotype evolution of small apes (2014) (303)
- De novo rates and selection of large copy number variation. (2010) (303)
- Global diversity, population stratification, and selection of human copy-number variation (2015) (296)
- The DNA sequence and biology of human chromosome 19 (2004) (295)
- Positive selection of a gene family during the emergence of humans and African apes (2001) (294)
- High-throughput variation detection and genotyping using microarrays. (2001) (291)
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk (2014) (285)
- HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads (2020) (284)
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2012) (283)
- Structure of chromosomal duplicons and their role in mediating human genomic disorders. (2000) (276)
- Discovery and genotyping of structural variation from long-read haploid genome sequence data (2017) (276)
- Analysis of copy number variations among diverse cattle breeds. (2010) (276)
- A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms (2010) (274)
- Copy number variation of individual cattle genomes using next-generation sequencing. (2012) (273)
- Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. (2013) (272)
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. (2017) (272)
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome (2009) (271)
- Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant (2008) (270)
- Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat (1993) (270)
- Estimates of penetrance for recurrent pathogenic copy-number variations (2012) (270)
- Human copy number variation and complex genetic disease. (2011) (263)
- Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding (2015) (262)
- A SWI/SNF related autism syndrome caused by de novo mutations in ADNP (2014) (259)
- Shotgun sequence assembly and recent segmental duplications within the human genome (2004) (259)
- Mutational and selective effects on copy-number variants in the human genome (2007) (258)
- De novo genic mutations among a Chinese autism spectrum disorder cohort (2016) (255)
- Phenotypic variability and genetic susceptibility to genomic disorders. (2010) (250)
- High-resolution comparative analysis of great ape genomes (2018) (250)
- Genomic Patterns of De Novo Mutation in Simplex Autism (2017) (247)
- Systematic assessment of copy number variant detection via genome-wide SNP genotyping (2008) (246)
- Haplotype-resolved genome sequencing of a Gujarati Indian individual (2011) (244)
- Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. (2007) (242)
- Complex SNP-related sequence variation in segmental genome duplications (2004) (241)
- Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes (2020) (241)
- Chromosome evolution in eukaryotes: a multi-kingdom perspective. (2005) (241)
- Mouse segmental duplication and copy number variation (2008) (240)
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation (2021) (239)
- Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery (2010) (235)
- Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. (2016) (234)
- Population Stratification of a Common APOBEC Gene Deletion Polymorphism (2007) (234)
- Reconstructing complex regions of genomes using long-read sequencing technology (2014) (230)
- Hotspots for copy number variation in chimpanzees and humans. (2006) (230)
- Mouse regulatory DNA landscapes reveal global principles of cis-regulatory evolution (2014) (230)
- Long-read sequencing and de novo assembly of a Chinese genome (2016) (229)
- Hotspots of mammalian chromosomal evolution (2004) (229)
- Low copy number of the salivary amylase gene predisposes to obesity (2014) (224)
- Copy number variation and evolution in humans and chimpanzees. (2008) (224)
- The discovery of integrated gene networks for autism and related disorders (2015) (221)
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. (2009) (220)
- The Common Marmoset Genome Provides Insight into Primate Biology and Evolution (2014) (219)
- Properties and rates of germline mutations in humans. (2013) (218)
- Duplication hotspots, rare genomic disorders, and common disease. (2009) (216)
- Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. (2003) (214)
- Rare copy number variants are an important cause of epileptic encephalopathies (2011) (213)
- Estimating human mutation rate using autozygosity in a founder population (2012) (202)
- Clinical and molecular delineation of the 17q21.31 microdeletion syndrome (2008) (202)
- A Genotype-First Approach to Defining the Subtypes of a Complex Disease (2014) (201)
- Completing the map of human genetic variation (2007) (199)
- The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution (2017) (199)
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (2016) (197)
- Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution (2007) (196)
- Whole-genome shotgun assembly and comparison of human genome assemblies (2004) (195)
- Complete haplotype sequence of the human immunoglobulin heavy-chain variable, diversity, and joining genes and characterization of allelic and copy-number variation. (2013) (194)
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity (2018) (193)
- The structure and evolution of centromeric transition regions within the human genome (2004) (191)
- A genome-wide survey of structural variation between human and chimpanzee. (2005) (189)
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. (2015) (187)
- Characterization of a recurrent 15q24 microdeletion syndrome. (2007) (185)
- Evolutionary toggling of the MAPT 17q21.31 inversion region (2008) (185)
- An assessment of the sequence gaps: Unfinished business in a finished human genome (2004) (181)
- Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22. (2002) (178)
- Fine structure of the human FMR1 gene. (1993) (177)
- High-resolution human genome structure by single-molecule analysis (2010) (175)
- Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity (2010) (175)
- Human uniqueness: genome interactions with environment, behaviour and culture (2008) (164)
- Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. (1996) (161)
- The sequence and analysis of duplication-rich human chromosome 16 (2004) (160)
- denovo-db: a compendium of human de novo variants (2016) (159)
- Masquerading repeats: paralogous pitfalls of the human genome. (1998) (159)
- Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (1999) (158)
- Evolution and diversity of copy number variation in the great ape lineage (2013) (157)
- Analysis of primate genomic variation reveals a repeat-driven expansion of the human genome. (2003) (156)
- The genomic architecture of segmental duplications and associated copy number variants in dogs. (2008) (156)
- Characterization of Missing Human Genome Sequences and Copy-number Polymorphic Insertions (2010) (151)
- Programmed loss of millions of base pairs from a vertebrate genome (2009) (150)
- Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications (2009) (150)
- Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. (1998) (147)
- Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene. (1998) (147)
- Large-scale variation among human and great ape genomes determined by array comparative genomic hybridization. (2003) (146)
- The structure, function and evolution of a complete human chromosome 8 (2020) (146)
- Computational pan-genomics: status, promises and challenges (2016) (145)
- Prioritization of neurodevelopmental disease genes by discovery of new mutations (2014) (143)
- Recurrent sites for new centromere seeding. (2004) (141)
- The origins and impact of primate segmental duplications. (2009) (140)
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. (2009) (139)
- Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. (1997) (137)
- Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. (2013) (136)
- Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly (2017) (135)
- Evolutionary Formation of New Centromeres in Macaque (2007) (135)
- Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID (2016) (133)
- A burst of segmental duplications in the genome of the African great ape ancestor (2009) (133)
- Structural variation of the human genome. (2006) (132)
- A burst of segmental duplications in the genome of the African great ape ancestor (2009) (131)
- Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains (2017) (128)
- Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. (2013) (126)
- Analysis of segmental duplications and genome assembly in the mouse. (2004) (125)
- Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster (2003) (124)
- Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism (2012) (124)
- Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. (2016) (123)
- Characterization of six human disease-associated inversion polymorphisms (2009) (123)
- Detection of structural variants and indels within exome data (2011) (123)
- Death and Resurrection of the Human IRGM Gene (2009) (123)
- Alternative splicing in the fragile X gene FMR1. (1993) (122)
- Detection and characterization of novel sequence insertions using paired-end next-generation sequencing (2010) (121)
- Single haplotype assembly of the human genome from a hydatidiform mole (2014) (120)
- Lessons from the human genome: transitions between euchromatin and heterochromatin. (2001) (119)
- Human adaptation and evolution by segmental duplication. (2016) (119)
- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (2013) (117)
- The DNA sequence and comparative analysis of human chromosome 5 (2004) (116)
- Copy-number variation and false positive prenatal aneuploidy screening results. (2015) (116)
- Primate segmental duplications: crucibles of evolution, diversity and disease (2006) (115)
- Characteristics of de novo structural changes in the human genome (2015) (113)
- Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome. (1998) (113)
- De novo TBR1 mutations in sporadic autism disrupt protein functions (2014) (113)
- Alu repeat discovery and characterization within human genomes. (2011) (113)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (111)
- De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. (2017) (111)
- Long-read sequence and assembly of segmental duplications (2018) (107)
- Widening the spectrum of human genetic variation (2006) (107)
- Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. (2012) (107)
- The genetic variability and commonality of neurodevelopmental disease (2012) (106)
- Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) (2001) (106)
- Segmental duplications: what's missing, misassigned, and misassembled--and should we care? (2001) (105)
- The comparative genomics and complex population history of Papio baboons (2019) (105)
- Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. (1996) (102)
- BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications (2004) (102)
- Recent segmental duplications in the working draft assembly of the brown Norway rat. (2004) (100)
- Analysis of recent segmental duplications in the bovine genome (2009) (100)
- The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome. (2000) (100)
- A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications. (2006) (98)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4 (2005) (98)
- Lineage-Specific Expansions of Retroviral Insertions within the Genomes of African Great Apes but Not Humans and Orangutans (2005) (98)
- Population-genetic properties of differentiated human copy-number polymorphisms. (2011) (97)
- Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications (2017) (97)
- A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk (2010) (96)
- A high-quality human reference panel reveals the complexity and distribution of genomic structural variants (2016) (96)
- Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility (2016) (96)
- Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease (2019) (95)
- Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) (94)
- Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model (2018) (94)
- Epigenetics of Autism-related Impairment: Copy Number Variation and Maternal Infection (2015) (94)
- Genetic Consequences of Programmed Genome Rearrangement (2012) (93)
- Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11. (2000) (91)
- Complete genomic and epigenetic maps of human centromeres (2021) (90)
- De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects (2016) (90)
- The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant (2015) (88)
- Genome-wide characterization of centromeric satellites from multiple mammalian genomes. (2011) (88)
- Transmission disequilibrium of small CNVs in simplex autism. (2013) (88)
- Genetic Variation, Comparative Genomics, and the Diagnosis of Disease. (2019) (87)
- Organization and Evolution of Primate Centromeric DNA from Whole-Genome Shotgun Sequence Data (2007) (87)
- Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP (2019) (85)
- Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability (2014) (84)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (84)
- Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. (1995) (84)
- Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads (2020) (84)
- A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog (2011) (82)
- Individual A High-Coverage Genome Sequence from an Archaic Denisovan (2012) (82)
- Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features (2012) (81)
- An Incomplete Understanding of Human Genetic Variation (2016) (81)
- Human chromosome 11 DNA sequence and analysis including novel gene identification (2006) (81)
- Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. (2011) (80)
- Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. (1994) (78)
- CAGGG repeats and the pericentromeric duplication of the hominoid genome. (1999) (78)
- Simultaneous structural variation discovery among multiple paired-end sequenced genomes. (2011) (78)
- Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis (2010) (77)
- Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes (2018) (77)
- B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (2015) (76)
- The Human Pangenome Project: a global resource to map genomic diversity (2022) (76)
- The evolution and population diversity of human-specific segmental duplications (2017) (76)
- Repetitive conundrums of centromere structure and function. (1999) (76)
- TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function. (2016) (76)
- Comparative analysis of Alu repeats in primate genomes. (2009) (76)
- Recurrent duplication-driven transposition of DNA during hominoid evolution (2006) (75)
- Insufficient Evidence for “Autism-Specific” Genes (2020) (75)
- Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. (1995) (73)
- Analysis of the DNA sequence and duplication history of human chromosome 15 (2006) (73)
- Slipped-CAG DNA binding small molecule induces trinucleotide repeat contractions in vivo (2020) (72)
- ADCY5-related dyskinesia (2015) (71)
- Single-cell epigenomics reveals mechanisms of human cortical development (2021) (71)
- The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism (2014) (70)
- The evolution of human segmental duplications and the core duplicon hypothesis. (2009) (70)
- Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. (2011) (70)
- Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. (1997) (69)
- Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus. (2013) (69)
- Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12. (1998) (69)
- FMR1 in global populations. (1996) (68)
- Rare copy number variation in cerebral palsy (2013) (68)
- The complete sequence of human chromosome 5 (2004) (68)
- Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. (2014) (67)
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (67)
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (67)
- Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019) (66)
- The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (2018) (65)
- Tissue-specific variation in DNA methylation levels along human chromosome 1 (2009) (65)
- mrsFAST-Ultra: a compact, SNP-aware mapper for high performance sequencing applications (2014) (64)
- Human-specific tandem repeat expansion and differential gene expression during primate evolution (2019) (64)
- Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p. (2003) (63)
- Copy Number Variation of CCL3-like Genes Affects Rate of Progression to Simian-AIDS in Rhesus Macaques (Macaca mulatta) (2009) (62)
- Sequencing primate genomes: what have we learned? (2009) (62)
- Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. (2014) (62)
- Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy (2015) (60)
- Molecular refinement of gibbon genome rearrangements. (2007) (60)
- Independent centromere formation in a capricious, gene-free domain of chromosome 13q21 in Old World monkeys and pigs (2006) (60)
- Global increases in both common and rare copy number load associated with autism (2013) (60)
- Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders. (2019) (58)
- Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline (2014) (58)
- Segmental duplications and their variation in a complete human genome (2021) (57)
- Rates and patterns of great ape retrotransposition (2013) (57)
- The evolution and population diversity of human-specific segmental duplications. (2017) (57)
- Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads (2019) (57)
- From telomere to telomere: the transcriptional and epigenetic state of human repeat elements (2021) (56)
- Brain white matter structure and COMT gene are linked to second-language learning in adults (2016) (55)
- Linkage Disequilibrium between Two High-Frequency Deletion Polymorphisms: Implications for Association Studies Involving the glutathione-S transferase (GST) Genes (2009) (55)
- Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. (2016) (53)
- A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration (2011) (52)
- Epigenetic Patterns in a Complete Human Genome (2021) (52)
- Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. (2015) (52)
- Targeted long-read sequencing identifies missing disease-causing variation. (2021) (52)
- The Chromosome-Level Reference Genome of Tea Tree Unveils Recent Bursts of Non-autonomous LTR Retrotransposons to Drive Genome Size Evolution. (2020) (52)
- New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset. (2009) (52)
- Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility (2020) (51)
- Evolution of the cryptic FMR1 CGG repeat (1995) (51)
- Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes (2019) (51)
- Closing gaps in the human genome with fosmid resources generated from multiple individuals (2008) (50)
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. (2017) (49)
- Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia (2018) (48)
- Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities (2004) (48)
- The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders (2019) (47)
- Human copy number polymorphic genes (2009) (47)
- The genomic architecture of segmental duplications and copy number variants in dogs (2009) (46)
- Evolutionary-new centromeres preferentially emerge within gene deserts (2008) (46)
- Prospective investigation of FOXP1 syndrome (2017) (46)
- The caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity (2017) (46)
- Epi4K: Gene discovery in 4,000 genomes (2012) (46)
- Clinical phenotype of ASD-associated DYRK1A haploinsufficiency (2017) (46)
- The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild (2013) (46)
- The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders (2018) (45)
- Transcriptional fates of human-specific segmental duplications in brain (2018) (45)
- A genetic model for neurodevelopmental disease (2012) (45)
- Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. (2018) (45)
- The Chromosome-based Rubber Tree Genome Provides New Insights into Spurge Genome Evolution and Rubber Biosynthesis. (2019) (44)
- Recent ultra-rare inherited variants implicate new autism candidate risk genes (2021) (44)
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity (2014) (43)
- DupMasker: a tool for annotating primate segmental duplications. (2008) (43)
- Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations (2020) (43)
- Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit (2019) (43)
- Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism (2016) (42)
- Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants (2019) (42)
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. (2021) (41)
- Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects (2012) (40)
- Human IRGM gene “to be or not to be” (2010) (39)
- Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C (2021) (39)
- Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads (2019) (39)
- MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals (2014) (39)
- Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family (2018) (39)
- Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. (2009) (39)
- A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus (2020) (38)
- Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders (2019) (38)
- Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. (1996) (38)
- Further clinical and molecular delineation of the 15q24 microdeletion syndrome (2011) (38)
- Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity (2014) (38)
- Interchromosomal segmental duplications of the pericentromeric region on the human Y chromosome. (2005) (38)
- Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes (2022) (38)
- Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. (2003) (37)
- Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma (2014) (37)
- The autism spectrum phenotype in ADNP syndrome (2018) (37)
- A hot spot of genetic instability in autism. (2008) (37)
- Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies. (2021) (37)
- Semi-automated assembly of high-quality diploid human reference genomes (2022) (37)
- Extended haplotype phasing of de novo genome assemblies with FALCON-Phase (2019) (36)
- An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis (2014) (36)
- The complete sequence of a human Y chromosome (2022) (35)
- The birth of a human-specific neural gene by incomplete duplication and gene fusion (2017) (34)
- Single cell epigenomic atlas of the developing human brain and organoids (2019) (34)
- De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila (2016) (34)
- A Draft Human Pangenome Reference (2022) (33)
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. (2017) (33)
- Haplotype sorting using human fosmid clone end-sequence pairs. (2008) (33)
- Evidence for Involvement of GNB1L in Autism (2011) (33)
- Punctuated duplication seeding events during the evolution of human chromosome 2p11. (2005) (33)
- A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes. (2002) (32)
- Inversion variants in human and primate genomes (2018) (32)
- Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats (2019) (32)
- Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy (2009) (32)
- Bovine NK-lysin: Copy number variation and functional diversification (2015) (32)
- Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions. (2008) (32)
- Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders (2019) (32)
- A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency (2017) (31)
- Sequencing of sporadic Attention‐Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder (2017) (31)
- The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2 (2012) (30)
- Evolution of a Human-Specific Tandem Repeat Associated with ALS. (2020) (30)
- Recurrent inversion toggling and great ape genome evolution (2020) (30)
- Biomedical applications and studies of molecular evolution: a proposal for a primate genomic library resource. (2002) (30)
- Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome (2011) (30)
- Epigenetic origin of evolutionary novel centromeres (2017) (30)
- Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication (2008) (29)
- Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region (2016) (29)
- Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy. (2009) (28)
- Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. (2019) (28)
- Optimal design of oligonucleotide microarrays for measurement of DNA copy-number. (2007) (28)
- High-throughput genotyping of intermediate-size structural variation. (2006) (28)
- Divergent origins and concerted expansion of two segmental duplications on chromosome 16. (2001) (27)
- Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies (2016) (27)
- A fully phased accurate assembly of an individual human genome (2019) (27)
- Evolutionary dynamism of the primate LRRC37 gene family (2013) (27)
- Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission (2019) (27)
- Segmental duplications and the human genome (2005) (26)
- Human-specific NOTCH-like genes in a region linked to neurodevelopmental disorders affect cortical neurogenesis (2017) (26)
- Alternative splicing in the fragile X gene FMR1. (1993) (26)
- Signals of Historical Interlocus Gene Conversion in Human Segmental Duplications (2013) (25)
- Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders (2022) (25)
- Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome (2020) (25)
- Genomic studies in fragile X premutation carriers (2014) (25)
- Sensitive and fast mapping of di-base encoded reads (2011) (25)
- Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. (2012) (24)
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) (24)
- Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes (2021) (23)
- Molecular evolution of the human chromosome 15 pericentromeric region (2004) (23)
- Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort (2019) (23)
- Genome-wide detection and analysis of recent segmental duplications within mammalian organisms. (2003) (23)
- De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome (2020) (23)
- Discovery of large genomic inversions using long range information (2017) (23)
- Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. (2007) (22)
- Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity (2013) (22)
- The Role of Unequal Crossover in Alpha-Satellite DNA Evolution: A Computational Analysis (2004) (22)
- The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. (2019) (22)
- Resolving Multicopy Duplications de novo Using Polyploid Phasing (2017) (21)
- High-Quality Assembly of an Individual of Yoruban Descent (2016) (21)
- Multi-platform discovery of haplotype-resolved structural variation in human genomes (2019) (20)
- De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) (20)
- Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region (2012) (20)
- Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes (2019) (20)
- Recurrent duplications of 17q12 associated with variable phenotypes (2015) (20)
- A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0) (2017) (20)
- Strand-seq enables reliable separation of long reads by chromosome via expectation maximization (2018) (20)
- Accelerated exon evolution within primate segmental duplications (2013) (20)
- Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs). (2017) (19)
- Verkko: telomere-to-telomere assembly of diploid chromosomes (2022) (19)
- Pangenome-based genome inference (2020) (19)
- Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013)) (2017) (19)
- Segmental duplications flank the multiple sclerosis locus on chromosome 17q. (2004) (19)
- ViewGene: a graphical tool for polymorphism visualization and characterization. (2002) (18)
- Copy Number Variation of CCL 3-like Genes Affects Rate of Progression to Simian-AIDS in Rhesus Macaques ( Macaca mulatta ) (2009) (18)
- Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes (2020) (17)
- A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development. (2021) (17)
- The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects (2021) (17)
- Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology. (2022) (17)
- Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs (2020) (17)
- Cloning, sequencing, gene organization, and localization of the human ribosomal protein RPL23A gene. (1997) (17)
- Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing (2014) (16)
- Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism (2017) (16)
- Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats (2019) (16)
- Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses (2011) (16)
- ORMAN: Optimal resolution of ambiguous RNA-Seq multimappings in the presence of novel isoforms (2014) (16)
- StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps (2021) (15)
- Molecular subtyping and improved treatment of neurodevelopmental disease (2016) (15)
- Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical information (2021) (15)
- Genotype-First Analysis of the 16p11.2 Deletion Defines a New Type of “Autism” (2015) (15)
- Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative (2019) (14)
- Non‐invasive fetal genome sequencing: Opportunities and challenges (2012) (14)
- A high-quality bonobo genome refines the analysis of hominid evolution (2021) (14)
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus (2019) (14)
- De Novo CNVs in Bipolar Disorder: Recurrent Themes or New Directions? (2011) (13)
- Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. (2021) (13)
- Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion (2013) (13)
- Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
- SPANX Gene Variation in Fertile and Infertile Males (2010) (13)
- Simultaneous Structural Variation Discovery in Multiple Paired-End Sequenced Genomes (2011) (13)
- Sequence variation within the fragile X locus. (2001) (13)
- An evolutionary driver of interspersed segmental duplications in primates (2020) (13)
- Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers (2020) (13)
- Genomic Architecture of Aggression: Rare Copy Number Variants in Intermittent Explosive Disorder (2011) (13)
- Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders (2021) (12)
- Hominoid fission of chromosome 14/15 and the role of segmental duplications (2013) (12)
- White Paper for Complete Sequencing of the Common Marmoset (callithrix Jacchus) Genome (2004) (12)
- The effects of common structural variants on 3D chromatin structure (2020) (12)
- Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589)) (2012) (11)
- Diverse genetic causes of polymicrogyria with epilepsy (2021) (11)
- Familial long-read sequencing increases yield of de novo mutations. (2022) (11)
- Molecular structure and evolution of an alpha satellite / non-alpha satellite junction at 16 p 11 (1999) (10)
- Recent ultra-rare inherited mutations identify novel autism candidate risk genes (2020) (10)
- Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders (2021) (10)
- Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk (2018) (9)
- Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes (2020) (9)
- Potocki-Lupski syndrome mimicking a connective tissue disorder. (2008) (9)
- Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region (2017) (9)
- Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats (2021) (9)
- Beliefs in vaccine as causes of autism among SPARK cohort caregivers. (2020) (9)
- Targeted interrogation of copy number variation using SCIMMkit (2009) (9)
- DYRK1A-Related Intellectual Disability Syndrome (2015) (9)
- Alu insertion polymorphisms shared by Papio baboons and Theropithecus gelada reveal an intertwined common ancestry (2019) (9)
- BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder (2020) (8)
- De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation (2020) (8)
- The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements (2008) (8)
- The Pathological Consequences and Evolutionary Implications of Recent Human Genomic Duplications (2000) (8)
- Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants (2020) (8)
- Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (2019) (8)
- Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder (2020) (8)
- Telomere-to-telomere assembly of diploid chromosomes with Verkko. (2023) (8)
- Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans (2020) (7)
- Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution (2018) (7)
- Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates (2020) (7)
- Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution (2020) (6)
- An algorithmic analysis of the role of unequal crossover in alpha-satellite DNA evolution. (2002) (6)
- Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly (2020) (6)
- Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data. (2018) (6)
- NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. (2020) (6)
- Genome structural variation discovery and genotyping—sequencing versus arrays (2012) (6)
- Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA (2021) (6)
- Rare variants and the oligogenic architecture of autism. (2022) (6)
- Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry (2016) (6)
- Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (5)
- A human-specific structural variation at the ZNF558 locus controls a gene regulatory network during forebrain development (2020) (5)
- Co-occurring medical conditions among individuals with ASD-associated disruptive mutations (2020) (5)
- Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations (2020) (5)
- Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism (2017) (5)
- Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (5)
- Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity (2017) (5)
- Manipulating multiple sequence alignments via MaM and WebMaM (2005) (5)
- Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders (2021) (5)
- Integrative cross-species analyses identify deficits in habituation learning as a widely affected mechanism in Autism (2018) (4)
- A hundred genes implicated in intellectual disability and autism regulate habituation learning and reveal an opposing role for Ras-MAPK signaling in inhibitory and excitatory neurons (2019) (4)
- A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population (2016) (4)
- Increased mutation rate and interlocus gene conversion within human segmental duplications (2022) (4)
- Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants (2021) (4)
- Functional Characterization of the Morpheus Gene Family (2017) (4)
- Functional divergence of the two Elongator subcomplexes during neurodevelopment (2022) (4)
- The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (2018) (4)
- Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p (2022) (4)
- Alpha Satellite Insertion Close to an Ancestral Centromeric Region (2021) (3)
- Human genome structural variation and disease (2012) (3)
- Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity (2021) (3)
- Corrigendum: Fine structure of the human FMR1 gene (Human Molecular Gentics (1993) 2 (1147-1153)) (1994) (3)
- The nature, pattern and function of human sequence variation (2004) (3)
- Integrative Cross-species Analyses Suggest Deficits in Habituation Learning as a Widely Affected Mechanism in Intellectual Disability and Autism Spectrum Disorders (2018) (3)
- Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation (2022) (3)
- Systematic assessment of copy-number variant detection via genome-wide single nucleotide polymorphism genotyping (2009) (3)
- Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency (2022) (3)
- 3-hour genome sequencing and targeted analysis to rapidly assess genetic risk (2022) (3)
- Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. (2022) (3)
- Longitudinal report of child with de novo 16p11.2 triplication (2017) (3)
- Discovery of large genomic inversions using pooled clone sequencing (2015) (3)
- Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration (2018) (2)
- Complete vertebrate mitogenomes reveal widespread repeats and gene duplications (2021) (2)
- Erratum: Haplotype-resolved genome sequencing of a Gujarati Indian individual (2011) (2)
- Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003)) (2017) (2)
- Recent duplication, evolution and assembly of the human genome (2002) (2)
- Stochasticity explains differences in the number of de novo mutations between families (2020) (2)
- Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies (2022) (2)
- Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation (2022) (2)
- B56delta-related protein phosphatase 2A dysfunction causes intellectual disability (2015) (2)
- Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. (2022) (2)
- Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases (2022) (2)
- SMRT sequencing yields the chromosome-scale reference genome of tea tree, Camellia sinensis var. sinensis (2020) (2)
- Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice (2023) (2)
- A White Paper Advocating Complete Sequencing of the Genome of the Common Chimpanzee , Pan Troglodytes (2002) (2)
- Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder (2013) (2)
- Gaps and complex structurally variant loci in phased genome assemblies (2022) (2)
- MaM : Multiple alignment Manipulator (2)
- The Dynamic Structure and Rapid Evolution of Human Centromeric Satellite DNA (2022) (1)
- Genomic studies in fragile X premutation carriers (2014) (1)
- A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years (2022) (1)
- copy number variants in dogs The genomic architecture of segmental duplications and associated Material (2009) (1)
- An evolutionary driver of interspersed segmental duplications in primates (2020) (1)
- 2012 introduction to the Curt Stern Award: Jay Shendure. (2013) (1)
- Mining the gaps of chromosome 8. (2021) (1)
- Fine structure of the human FMR1 gene. (1994) (1)
- GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads (2022) (1)
- Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability (2023) (1)
- next-generation sequencing Copy number variation of individual cattle genomes using Material Supplemental (2012) (1)
- Sleep Problems in Children with ASD and Gene Disrupting Mutations (2021) (1)
- A family study implicates GBE1 in the etiology of autism spectrum disorder (2021) (1)
- The Chimp Genome Reveals a Retroviral Invasion in Primate Evolution (2005) (1)
- Utility of long-read sequencing for All of Us (2023) (1)
- Accelerated exon evolution within primate segmental duplications (2013) (1)
- A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo (2020) (1)
- Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution (2018) (1)
- The effects of common structural variants on 3D chromatin structure (2020) (1)
- C. Thomas Caskey (1938–2022) (2022) (1)
- Genomes and evolution. From sequence to organism. (2003) (1)
- Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements (2022) (1)
- Corrigendum: MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals. (2015) (1)
- The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild (2013) (1)
- Statistical Identification of Uniformly Mutated Segments within Repeats (2002) (1)
- Single-cell epigenomics reveals mechanisms of human cortical development (2021) (1)
- Alpha satellite insertions and the evolutionary landscape of centromeres 1 (2021) (1)
- The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 (2022) (1)
- The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients (2019) (1)
- GIGYF1 disruption associates with autism and impaired IGF-1R signaling (2022) (1)
- Author Correction: Comparative and demographic analysis of orang-utan genomes (2022) (1)
- duplications rearrangements and the impact of segmental BAC microarray analysis of 15 q 11 – q 13 (2004) (1)
- Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications (2017) (1)
- Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort (2020) (1)
- Contents Vol. 123, 2008 (2009) (0)
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) (0)
- Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
- Non-Invasive Fetal Genome Sequencing: Opportunities and Challenges (2020) (0)
- 2020 William Allan Award introduction: Mary-Claire King. (2021) (0)
- Genomes and evolution From sequence to organism Editorial overview Evan E Eichler and Nipam H Patel (2003) (0)
- ARRAY-CGH analysis in 92 children with complex syndromic phenotype (2009) (0)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (0)
- Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) (0)
- Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations (2020) (0)
- Long-read human genome sequencing and its applications (2020) (0)
- Mapping and characterization of structural variation in 17,795 human genomes (2020) (0)
- Telomere-to-telomere assembly of a complete human X chromosome (2020) (0)
- The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution (2018) (0)
- Deciphering the molecular mechanisms linking the development and evolution of the human cerebral cortex (2016) (0)
- Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution (2018) (0)
- Long-read sequence and assembly of segmental duplications (2018) (0)
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity (2018) (0)
- Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes (2022) (0)
- Recurrent inversion toggling and great ape genome evolution (2020) (0)
- Publisher Correction: The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution (2018) (0)
- De novo and familial DDX3X mutations are associated with X-linked intellectual disability and a diverse phenotypic spectrum (2015) (0)
- Supplemental Material Interchromosomal core duplicons drive both evolutionary and disease instability of the Chromosome 8 p 23 . 1 region (2016) (0)
- Supplementary Material for: Human copy number polymorphic genes (2017) (0)
- Global DNA methylation profiling of chromosome 1 in differentiated human tissues and cell lines lacking DNMT1 and/or DNMT3B (2006) (0)
- Calling inversions from next-generation sequencing paired-end mapping data with GRIAL (2012) (0)
- Acknowledgement to referees 2002 (2003) (0)
- Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes (2018) (0)
- APPLICATIONS OF NEXT-GENERATI ON SEQUENCING REVIEWS (2011) (0)
- Genome Recent Segmental Duplications in the Human (2008) (0)
- De novo and recurrent missense mutations in the regulatory B56delta and scaffolding Aalpha subunits of protein phosphatase 2A cause a syndromic form of intellectual disability (2014) (0)
- Sequence Ready Characterization of the Pericentromeric Region of 19p12 (2006) (0)
- AGG interspersions within the FMR1 CGG repeat: Mechanisms and models of triplet repeat instability (1994) (0)
- The caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity (2017) (0)
- Discovery of large genomic inversions using long range information (2017) (0)
- Origins and Impacts of Primate Segmental Duplications (2013) (0)
- The FRAXA fragile site and fragile X syndrome (2020) (0)
- A refined characterization of large-scale genomic differences in the first complete human genome (2022) (0)
- Copy number variation, exome sequencing and the variability in neurological disease (2012) (0)
- Characterization of Copy Number Variations in the Human Genome (2009) (0)
- Primate Comparative Genomics : The Evolution of our Order (2013) (0)
- Further molecular and phenotypic delineation of mutations of the PP2A subunits (2016) (0)
- hL1 retrotransposons drive human neuronal transcriptome complexity and functional diversification (2023) (0)
- ASHG AWARDS AND ADDRESSES (2014) (0)
- Identifying Uniformly Mutated Segments within Repeats (2004) (0)
- Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations (2020) (0)
- Brains Regional Patterns of Gene Expression in Human and Chimpanzee Material (2004) (0)
- TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function (2023) (0)
- Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
- 9 th European Cytogenetics Conference 29 June – 2 July 2013 , Dublin ‐ Ireland (2013) (0)
- De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders (2022) (0)
- HGM2008 plenary abstracts: landscape of genomic variation (2009) (0)
- Introductory Speech for Patrick O. Brown * * Previously presented at the annual meeting of The Amer (2006) (0)
- gene family LRRC 37 Evolutionary dynamism of the primate Material Supplemental (2012) (0)
- Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (2019) (0)
- Sequencing Complex Genomic Regions (2009) (0)
- high-throughput sequenced genomes Combinatorial algorithms for structural variation detection in Material Supplemental (2009) (0)
- 15: Structural variation of the human genome (2005) (0)
- Long-Read Sequencing Resolves Complex Structural Variants and Identifies Missing Disease-Causing Variants in Unsolved Cases of Hemophilia (2022) (0)
- Human Genome Structural Variation January 23 , 2006 (2007) (0)
- Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism (2017) (0)
- Next generation sequencing coupled to functional genomics implicates FOXP pathways in autism and language impairment (2012) (0)
- Structurally divergent and recurrently mutated regions of primate genomes (2023) (0)
- risk factor for psychosis (2014) (0)
- COMMENTARY Repetitive conundrums of centromere structure and function (1999) (0)
- Phased nanopore assembly with Shasta and modular graph phasing with GFAse (2023) (0)
- Analysis of copy number variation (CNV) of the SPANXA-E gene family in infertile and fertile men (2008) (0)
- Stable in a genome of instability: an interview with Evan Eichler. Interview by Jane Gitschier. (2008) (0)
- Conservation of chromatin organization within human and primate centromeres (2023) (0)
- The birth of a human-specific neural gene by incomplete duplication and gene fusion (2017) (0)
- 2013 William Allan Award Introduction: Aravinda Chakravarti1 (2014) (0)
- Microarrays High-Throughput Variation Detection and Genotyping Using data (2001) (0)
- Contents page + Editorial Board + Cover figure legend (2014) (0)
- Inversion polymorphism in a complete human genome assembly (2022) (0)
- outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion (2009) (0)
- PSB 2010 Tutorial: Personal Genomics (2010) (0)
- Response to Benn (2013) (0)
- the fusion of human chromosome 2 The evolution of African great ape subtelomeric heterochromatin Material (2012) (0)
- Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2. (2017) (0)
- A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency (2017) (0)
- O30: Human chromosome 1 methylation profiling reveals regional differences among tissues (2005) (0)
- Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. (2022) (0)
- 2016 ASHG Awards and Addresses. (2017) (0)
- Molecular subtyping and improved treatment of neurodevelopmental disease (2016) (0)
- The future of CNVs: sequence based resolution and links to human disease 1 (2017) (0)
- Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases (2017) (0)
- Islands of euchromatic-like sequence and expressed genes within the short arm of HSA21: sequence and copy number variability. (2006) (0)
- Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts (2022) (0)
- De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) (0)
- I4: Segmental duplications: a bioinformatics point of view (2005) (0)
- Deborah A. Nickerson (1954 –2021) (2022) (0)
- Genome Maps: 11 The Human Genome (2001) (0)
- Table 1. [Molecular Genetic Testing Used in DYRK1A-Related Intellectual Disability Syndrome]. (2015) (0)
- Fellowships, Grants, & Awards (2005) (0)
- Erratum: Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems (The American Journal of Human Genetics (2014) 94(5) (649–661) (S0002929714001153) (10.1016/j.ajhg.2014.03.013)) (2015) (0)
- Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts (2022) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. (2023) (0)
- Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders (2021) (0)
- chronic pancreatitis HP : hereditary pancreatitis Penetrance : the probability that an individual with a particular genotype expresses a particular phenotype Expressed pseudogene : a transition state between a functioning duplicated gene and a nonfunctional pseudogene INTRODUCTION Chronic pancreatit (2012) (0)
- 2005 Curt Stern Award address. Introductory speech for Patrick O. Brown. (2006) (0)
- Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B) (2022) (0)
- Fine structure of the FMR-1 locus (1994) (0)
- Recurrent 1q21.1 microdeletions associated with variable disease phenotypes (2008) (0)
- Results of whole-genome analysis from National Children's Study (NCS) (2014) (0)
- Alu insertion polymorphisms shared by Papio baboons and Theropithecus gelada reveal an intertwined common ancestry (2019) (0)
- Evolution of LRRC37 primate gene family from a functional perspective (2010) (0)
- Unpacking The Autism Spectrum Disorder Profile of Children With De Novo Disruptive GRIN2B Variants: A Quantitative and Qualitative Analysis (2020) (0)
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