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133. Incidental finding of the 1st degree of parental relatedness in a newborn with JBS and homozygous UBR1 mutationJie Xu, Catherine Melver, Sarah Ossler et al.|Cancer Genetics|2022Cited by 0
104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGSJie Xu, Carrie Costin, Melissa Stalling et al.|Cancer Genetics|2023Cited by 0
P771: Newborn with Kagami–Ogata syndrome and upd(14)pat characterized by trio SNP array, Mendelian inheritance error and genotyping analysesJie Xu, Catherine Ward‐Melver, Ilka Warshawsky et al.|Genetics in Medicine Open|2025Cited by 0