| Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics … ER Riggs, EF Andersen, AM Cherry, S Kantarci, H Kearney, A Patel, ... Genetics in Medicine 22 (2), 245-257, 2020 | 1129 | 2020 |
| Clinical application of whole-exome sequencing across clinical indications K Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ... Genetics in Medicine 18 (7), 696-704, 2016 | 1014 | 2016 |
| Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing LR Susswein, ML Marshall, R Nusbaum, KJ Vogel Postula, SM Weissman, ... Genetics in Medicine 18 (8), 823-832, 2016 | 292 | 2016 |
| Analysis of genotype–phenotype correlations in human holoprosencephaly BD Solomon, S Mercier, JI Vélez, DE Pineda‐Alvarez, A Wyllie, N Zhou, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010 | 155 | 2010 |
| Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort K Retterer, J Scuffins, D Schmidt, R Lewis, D Pineda-Alvarez, A Stafford, ... Genetics in Medicine 17 (8), 623-629, 2015 | 137 | 2015 |
| ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants X Luo, S Feurstein, S Mohan, CC Porter, SA Jackson, S Keel, M Chicka, ... Blood advances 3 (20), 2962-2979, 2019 | 133 | 2019 |
| Analysis of component findings in 79 patients diagnosed with VACTERL association BD Solomon, DE Pineda‐Alvarez, MS Raam, SM Bous, AA Keaton, ... American Journal of Medical Genetics Part A 152 (9), 2236-2244, 2010 | 115 | 2010 |
| Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia BD Solomon, DE Pineda‐Alvarez, JZ Balog, D Hadley, AL Gropman, ... American Journal of Medical Genetics Part A 149 (11), 2543-2546, 2009 | 114 | 2009 |
| Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation EM McCormick, MT Lott, MC Dulik, L Shen, M Attimonelli, O Vitale, ... Human mutation 41 (12), 2028-2057, 2020 | 103 | 2020 |
| Evidence for inheritance in patients with VACTERL association BD Solomon, DE Pineda-Alvarez, MS Raam, DAT Cummings Human genetics 127, 731-733, 2010 | 101 | 2010 |
| The mutational spectrum of holoprosencephaly‐associated changes within the SHH gene in humans predicts loss‐of‐function through either key structural … E Roessler, KB El‐Jaick, C Dubourg, JI Vélez, BD Solomon, ... Human mutation 30 (10), E921-E935, 2009 | 93 | 2009 |
| Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals BD Solomon, F Lacbawan, S Mercier, NJ Clegg, MR Delgado, ... Journal of medical genetics 47 (8), 513-524, 2010 | 87 | 2010 |
| Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog BD Solomon, KA Bear, A Wyllie, AA Keaton, C Dubourg, V David, ... Journal of medical genetics 49 (7), 473-479, 2012 | 81 | 2012 |
| Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo‐Esophageal fistula, Renal anomalies, Limb … BD Solomon, MS Raam, DE Pineda‐Alvarez Congenital anomalies 51 (2), 87-91, 2011 | 79 | 2011 |
| Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH DE Pineda-Alvarez, E Roessler, P Hu, K Srivastava, BD Solomon, ... Human genetics 131, 301-310, 2012 | 73 | 2012 |
| Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients DE Pineda‐Alvarez, C Dubourg, V David, E Roessler, M Muenke American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010 | 72 | 2010 |
| Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly U Hehr, DE Pineda-Alvarez, G Uyanik, P Hu, N Zhou, A Hehr, ... Human genetics 127, 555-561, 2010 | 64 | 2010 |
| Long-term outcomes of adults with features of VACTERL association MS Raam, DE Pineda-Alvarez, DW Hadley, BD Solomon European Journal of Medical Genetics 54 (1), 34-41, 2011 | 62 | 2011 |
| A hypomorphic allele in the FGF8 gene contributes to holoprosencephaly and is allelic to gonadotropin-releasing hormone deficiency in humans RF Arauz, BD Solomon, DE Pineda-Alvarez, AL Gropman, JA Parsons, ... Molecular syndromology 1 (2), 59-66, 2010 | 60 | 2010 |
| Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings JM Meck, EK Dugan, L Matyakhina, A Aviram, C Trunca, ... American journal of obstetrics and gynecology 213 (2), 214. e1-214. e5, 2015 | 58 | 2015 |
