| # | Title | Journal | Year | Citations |
|---|
| 1 | Nosology and classification of genetic skeletal disorders: 2015 revision | American Journal of Medical Genetics, Part A | 2015 | 453 |
| 2 | Nosology and classification of genetic skeletal disorders: 2019 revision | American Journal of Medical Genetics, Part A | 2019 | 431 |
| 3 | Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish | Development (Cambridge) | 2013 | 418 |
| 4 | Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome | Science Translational Medicine | 2014 | 223 |
| 5 | Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome | Journal of Experimental Medicine | 2013 | 186 |
| 6 | Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions | Human Mutation | 2015 | 156 |
| 7 | PDE3A mutations cause autosomal dominant hypertension with brachydactyly | Nature Genetics | 2015 | 146 |
| 8 | Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation | American Journal of Human Genetics | 2012 | 135 |
| 9 | Human genotype–phenotype databases: aims, challenges and opportunities | Nature Reviews Genetics | 2015 | 100 |
| 10 | PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome | American Journal of Human Genetics | 2013 | 98 |
| 11 | Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation | American Journal of Human Genetics | 2014 | 88 |
| 12 | Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency | Genetics in Medicine | 2016 | 85 |
| 13 | Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases | American Journal of Human Genetics | 2020 | 85 |
| 14 | Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion | Journal of Medical Genetics | 2012 | 81 |
| 15 | The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome | Genetics in Medicine | 2019 | 80 |
| 16 | A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT | Blood | 2013 | 77 |
| 17 | Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome | Clinical Genetics | 2014 | 72 |
| 18 | A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome | American Journal of Human Genetics | 2016 | 70 |
| 19 | MiR-497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling | Journal of Bone and Mineral Research | 2015 | 65 |
| 20 | Structural variations, the regulatory landscape of the genome and their alteration in human disease | BioEssays | 2013 | 61 |
| 21 | Copy-Number Variations, Noncoding Sequences, and Human Phenotypes | Annual Review of Genomics and Human Genetics | 2011 | 53 |
| 22 | Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice | Genome Research | 2016 | 52 |
| 23 | CNVs of noncoding cis-regulatory elements in human disease | Current Opinion in Genetics and Development | 2013 | 43 |
| 24 | Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families | Orphanet Journal of Rare Diseases | 2014 | 43 |
| 25 | Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome | European Journal of Human Genetics | 2015 | 42 |
| 26 | Noncoding copy-number variations are associated with congenital limb malformation | Genetics in Medicine | 2018 | 42 |
| 27 | Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness | Cancer Research | 2020 | 39 |
| 28 | MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis | Brain | 2020 | 38 |
| 29 | Brain region specific mitophagy capacity could contribute to selective neuronal vulnerability in Parkinson's disease | Proteome Science | 2011 | 34 |
| 30 | Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1 | PLoS ONE | 2014 | 29 |
| 31 | Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type | Journal of Medical Genetics | 2015 | 27 |
| 32 | Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects | Genome Medicine | 2013 | 23 |
| 33 | Clinical interpretation of CNVs with cross-species phenotype data | Journal of Medical Genetics | 2014 | 23 |
| 34 | Screening for single nucleotide variants, small indels and exon deletions with a next‐generation sequencing based gene panel approach for U sher syndrome | Molecular Genetics & Genomic Medicine | 2014 | 22 |
| 35 | Mutations inMYO1Hcause a recessive form of central hypoventilation with autonomic dysfunction | Journal of Medical Genetics | 2017 | 21 |
| 36 | PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics | Genetics in Medicine | 2019 | 21 |
| 37 | A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family | Experimental Eye Research | 2012 | 20 |
| 38 | Crowdsourced direct-to-consumer genomic analysis of a family quartet | BMC Genomics | 2015 | 20 |
| 39 | Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function | Human Mutation | 2017 | 20 |
| 40 | Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency | Journal of Human Genetics | 2016 | 18 |
| 41 | Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly | Human Genetics | 2019 | 16 |
| 42 | Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients | Genetics in Medicine | 2013 | 15 |
| 43 | A systematic, large-scale comparison of transcription factor binding site models | BMC Genomics | 2016 | 15 |
| 44 | Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation | PLoS ONE | 2018 | 15 |
| 45 | Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice | Aorta | 2013 | 14 |
| 46 | A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation | American Journal of Medical Genetics, Part A | 2016 | 14 |
| 47 | Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses | Bone | 2018 | 13 |
| 48 | Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome | Bone | 2015 | 12 |
| 49 | The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies | BMC Cancer | 2017 | 12 |
| 50 | Molecular Analysis of Two Novel Missense Mutations in the GDF5 Proregion That Reduce Protein Activity and Are Associated with Brachydactyly Type C | Journal of Molecular Biology | 2014 | 10 |
