| Year |
Citation |
Score |
| 2022 |
Aarabi M, Baumann J, Babcock M, Kessler E, Sebastian J, Madan-Khetarpal S, Hu J, Ou Z, Yatsenko S. Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots. Psychiatric Genetics. PMID 35837682 DOI: 10.1097/YPG.0000000000000319 |
0.432 |
|
| 2013 |
Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome American Journal of Medical Genetics, Part A. 161: 527-533. PMID 23401415 DOI: 10.1002/Ajmg.A.35784 |
0.674 |
|
| 2012 |
Samanich J, Montagna C, Morrow BE, Babcock M. Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism. Journal of Pediatric Genetics. 1: 47-53. PMID 27625801 DOI: 10.3233/Pge-2012-009 |
0.671 |
|
| 2012 |
Pope K, Samanich J, Ramesh KH, Cannizzaro L, Pan Q, Babcock M. Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication American Journal of Medical Genetics, Part A. 158: 641-647. PMID 22302699 DOI: 10.1002/Ajmg.A.34431 |
0.425 |
|
| 2012 |
Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, ... ... Babcock M, et al. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics. 13: 31-47. PMID 22218741 DOI: 10.1007/S10048-011-0306-5 |
0.687 |
|
| 2011 |
Petti M, Samanich J, Pan Q, Huang CK, Reinmund J, Farooqi S, Morrow B, Babcock M. Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature American Journal of Medical Genetics, Part A. 155: 825-832. PMID 21416589 DOI: 10.1002/Ajmg.A.33869 |
0.64 |
|
| 2011 |
Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, et al. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome European Journal of Medical Genetics. 54: 42-49. PMID 20951845 DOI: 10.1016/J.Ejmg.2010.10.002 |
0.631 |
|
| 2010 |
Monks DC, Jahangir A, Shanske AL, Samanich J, Morrow BE, Babcock M. Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia International Journal of Pediatric Otorhinolaryngology. 74: 878-882. PMID 20542577 DOI: 10.1016/J.Ijporl.2010.05.004 |
0.656 |
|
| 2010 |
Shan J, Chobot-Rodd J, Castellanos R, Babcock M, Shanske A, Parikh SR, Morrow BE, Samanich J. GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent International Journal of Pediatric Otorhinolaryngology. 74: 611-618. PMID 20381175 DOI: 10.1016/J.Ijporl.2010.03.004 |
0.627 |
|
| 2009 |
Alkalay A, Babcock M, Bergsmedh A, Monks D, King ME, Shaffer L, Morrow B. 709: Gene expression profiling of lymphoblastic cell lines from monosomy 1p36 patients reveals differential regulation (expression) of cardiac and neurologic relevant genes American Journal of Obstetrics and Gynecology. 201: S257. DOI: 10.1016/J.Ajog.2009.10.726 |
0.643 |
|
| 2007 |
Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Human Molecular Genetics. 16: 2560-71. PMID 17675367 DOI: 10.1093/Hmg/Ddm197 |
0.673 |
|
| 2007 |
Funke BH, Brown AC, Ramoni MF, Regan ME, Baglieri C, Finn CT, Babcock M, Shprintzen RJ, Morrow BE, Kucherlapati R. A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genetic Testing. 11: 91-100. PMID 17394398 DOI: 10.1089/Gte.2006.0507 |
0.649 |
|
| 2007 |
Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12 Genome Research. 17: 451-460. PMID 17284672 DOI: 10.1101/Gr.5651507 |
0.644 |
|
| 2005 |
Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, Morrow BE, Shaffer LG, Babcock M, Chernos J, Bernier F, Sprysak K, Christiansen J, Haase S, et al. Microduplication and triplication of 22q11.2: A highly variable syndrome American Journal of Human Genetics. 76: 865-876. PMID 15800846 DOI: 10.1086/429841 |
0.655 |
|
| 2003 |
Babcock M, Pavlicek A, Spiteri E, Kashork CD, Ioshikhes I, Shaffer LG, Jurka J, Morrow BE. Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Research. 13: 2519-32. PMID 14656960 DOI: 10.1101/Gr.1549503 |
0.742 |
|
| 2003 |
Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE. Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Human Molecular Genetics. 12: 1823-37. PMID 12874103 DOI: 10.1093/Hmg/Ddg203 |
0.727 |
|
| Show low-probability matches. |