Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

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第一作者： Natalie,Burrill

第一单位： Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

作者： Natalie,Burrill ^[1] ; Erica,Schindewolf ^[2] ; Lisa,Pilchman ^[3] ; Renee,Wright ^[3] ; Haley,Crane ^[3] ; Juliana,Gebb ^[4] ; Nahla,Khalek ^[4] ; Shelly,Soni ^[4] ; Christina,Paidas Teefey ^[4] ; Edward R,Oliver ^[5] ; Rebecca,Linn ^[6] ; Julie S,Moldenhauer ^[4]

作者单位： Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. ^[1] Undiagnosed Disease Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. ^[2] Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. ^[3] Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.;Department of Surgery, Perelman School of Medicine at University of Pennsylvania, Philadelphia, Pennsylvania, USA. ^[4] Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.;Department of Radiology, Perelman School of Medicine at University of Pennsylvania, Philadelphia, Pennsylvania, USA. ^[5] Division of Anatomic Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.;Department of Pathology and Laboratory Medicine, Perelman School of Medicine at University of Pennsylvania, Philadelphia, Pennsylvania, USA. ^[6]

关键词 autopsy exome sequencing genetic testing multiple congenital anomalies prenatal diagnosis ultrasound

DOI 10.1002/pd.6735

PMID 39743338

发布时间 2025-01-01

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Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

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Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

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