| Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ... Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017 | 279 | 2017 |
| Detection of clinically relevant exonic copy‐number changes by array CGH PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ... Human mutation 31 (12), 1326-1342, 2010 | 276 | 2010 |
| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 156 | 2022 |
| Analysis of the ABCA4 genomic locus in Stargardt disease J Zernant, Y Xie, C Ayuso, R Riveiro-Alvarez, MA Lopez-Martinez, ... Human molecular genetics 23 (25), 6797-6806, 2014 | 148 | 2014 |
| Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions CP Schaaf, PM Boone, S Sampath, C Williams, PI Bader, JM Mueller, ... European Journal of Human Genetics 20 (12), 1240-1247, 2012 | 133 | 2012 |
| Detection of clinically relevant copy number variants with whole‐exome sequencing J de Ligt, PM Boone, R Pfundt, LELM Vissers, T Richmond, J Geoghegan, ... Human mutation 34 (10), 1439-1448, 2013 | 130 | 2013 |
| Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ... Nucleic acids research 45 (4), 1633-1648, 2017 | 120 | 2017 |
| The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles PM Boone, B Yuan, IM Campbell, JC Scull, MA Withers, BC Baggett, ... The American Journal of Human Genetics 95 (2), 143-161, 2014 | 105 | 2014 |
| Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles PM Boone, IM Campbell, BC Baggett, ZT Soens, MM Rao, PM Hixson, ... Genome research 23 (9), 1383-1394, 2013 | 81 | 2013 |
| The genetics of pneumothorax PM Boone, RM Scott, SJ Marciniak, EP Henske, BA Raby American journal of respiratory and critical care medicine 199 (11), 1344-1357, 2019 | 69 | 2019 |
| Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia PM Boone, P Liu, F Zhang, CMB Carvalho, CF Towne, SD Batish, ... Genetics in Medicine 13 (6), 582-592, 2011 | 66 | 2011 |
| Genetic architecture of laterality defects revealed by whole exome sequencing AH Li, NA Hanchard, M Azamian, LCA D’Alessandro, Z Coban-Akdemir, ... European Journal of Human Genetics 27 (4), 563-573, 2019 | 61 | 2019 |
| A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics RA James, IM Campbell, ES Chen, PM Boone, MA Rao, MN Bainbridge, ... Genome medicine 8, 1-17, 2016 | 53 | 2016 |
| Incidental copy-number variants identified by routine genome testing in a clinical population PM Boone, ZT Soens, IM Campbell, P Stankiewicz, SW Cheung, A Patel, ... Genetics in medicine 15 (1), 45-54, 2013 | 48 | 2013 |
| Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations PM Boone, RJ Reiter, DG Glaze, DX Tan, JR Lupski, L Potocki American journal of medical genetics. Part A 155 (8), 2024, 2011 | 48 | 2011 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 47 | 2022 |
| Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D Y Okamoto, MT Goksungur, D Pehlivan, CR Beck, C Gonzaga-Jauregui, ... Genetics in medicine 16 (5), 386-394, 2014 | 46 | 2014 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 34 | 2020 |
| Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death PM Boone, B Yuan, S Gu, Z Ma, T Gambin, C Gonzaga‐Jauregui, M Jain, ... Molecular genetics & genomic medicine 4 (1), 77-94, 2016 | 34 | 2016 |
| Familial pneumothorax: towards precision medicine RM Scott, EP Henske, B Raby, PM Boone, RA Rusk, SJ Marciniak Thorax 73 (3), 270-276, 2018 | 30 | 2018 |
