Publication
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2024 |
| PubMed ID: 38524212 |
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| Records Return:
(23)
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| Catalog ID | Sex | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM07500 | Male | 23 YR | 967 | proband | FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 | GM |
| GM22752 | Female | 47 YR | 2897 | proband | EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE | GM |
| GM19977 | Male | 7 YR | 2499 | proband | SOTOS SYNDROME | GM |
| GM09301 | Male | 50 YR | 2146 | father | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
| GM14646 | Male | 46 YR | 1780 | father | HEMOCHROMATOSIS; HFE | GM |
| GM12932 | Female | 9 MO | 1546 | proband | GLYCOGEN STORAGE DISEASE II | GM |
| GM12878 | Female | | 1463 | mother | CEPH/UTAH PEDIGREE 1463 | GM |
| GM11319 | Female | 2 YR | 1361 | proband | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | GM |
| GM10080 | Male | 15 YR | 1161 | proband | COWDEN DISEASE; CD | GM |
| GM07859 | Female | 11 YR | 1080 | sister | CYSTIC FIBROSIS; CF | GM |
| GM07415 | Male | 37 YR | 1036 | father | TUBEROUS SCLEROSIS 1; TSC1 | GM |
| GM13715 | Female | 56 YR | | proband | BREAST CANCER, TYPE 1; BRCA1 | GM |
| GM14170 | Female | 46 YR | | proband | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2 | GM |
| GM14090 | Female | 43 YR | | proband | BREAST CANCER, TYPE 1; BRCA1 | GM |
| GM21976 | Female | 34 YR | | proband | MARFAN SYNDROME; MFS | GM |
| GM13591 | Female | 32 YR | | proband | CYSTIC FIBROSIS; CF | GM |
| GM13326 | Female | 17 YR | | proband | ATAXIA-TELANGIECTASIA; AT | GM |
| GM11906 | Female | | | proband | MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERFF | GM |
| NA00998 | Male | 4 YR | | proband | CYSTIC FIBROSIS; CF | GM |
| GM00325 | Male | 30 YR | | proband | GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD | GM |
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