| Year |
Citation |
Score |
| 2019 |
Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. Journal of Autism and Developmental Disorders. PMID 30783897 DOI: 10.1007/s10803-019-03899-0 |
0.408 |
|
| 2015 |
Aylsworth AS, Allori AC, Pimenta LA, Marcus JR, Harmsen KG, Watkins SE, Ramsey BL, Strauss RP, Meyer RE. Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the north carolina cleft outcomes study. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 26251069 DOI: 10.1002/Bdra.23415 |
0.349 |
|
| 2015 |
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, ... ... Aylsworth AS, et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. European Journal of Human Genetics : Ejhg. PMID 25920557 DOI: 10.1038/Ejhg.2015.29 |
0.316 |
|
| 2015 |
Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM. Aortopathy in the 7q11.23 microduplication syndrome. American Journal of Medical Genetics. Part A. 167: 363-70. PMID 25428557 DOI: 10.1002/ajmg.a.36859 |
0.31 |
|
| 2013 |
Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, et al. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics. Part A. 161: 1833-52. PMID 23813913 DOI: 10.1002/Ajmg.A.35996 |
0.353 |
|
| 2013 |
Cushion TD, Dobyns WB, Mullins JGL, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Brain. 136: 536-548. PMID 23361065 DOI: 10.1093/brain/aws338 |
0.318 |
|
| 2013 |
Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. American Journal of Medical Genetics. Part A. 161: 198-202. PMID 23239541 DOI: 10.1002/Ajmg.A.35671 |
0.37 |
|
| 2012 |
Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, ... ... Aylsworth AS, et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Human Genetics. 131: 145-56. PMID 21800092 DOI: 10.1007/s00439-011-1073-y |
0.335 |
|
| 2009 |
Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, et al. The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proceedings of the National Academy of Sciences of the United States of America. 106: 12031-6. PMID 19597142 DOI: 10.1073/Pnas.0813248106 |
0.328 |
|
| 2007 |
Kranz C, Basinger AA, Güçsava?-Caliko?lu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. American Journal of Medical Genetics. Part A. 143: 1371-8. PMID 17506107 DOI: 10.1002/ajmg.a.31791 |
0.452 |
|
| 2002 |
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genetics. 32: 285-9. PMID 12219090 DOI: 10.1038/Ng985 |
0.351 |
|
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