Access to prenatal exome sequencing for fetal malformations: A qualitative landscape analysis in the US

Authors: Sahin‐Hodoglugil, Nuriye N., Lianoglou, Billie R., Ackerman, Sara, Sparks, Teresa N., Norton, Mary E.

Source: Prenatal diagnosis. 43(11):1394-1405

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195221434.0x000001&indx=1&recIds=ETOCvdc_100195221434.0x000001

The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry

Authors: Schwab, Marisa E., Lianoglou, Billie R., Gano, Dawn, Gonzalez Velez, Juan, Allen, Isabel E., Arvon, Regina, Baschat, Ahmet, Bianchi, Diana W., Bitanga, Melissa, Bourguignon, Anne, Brown, Richard N., Chen, Bruce, Chien, May, Davis-Nelson, Shareece, de Laat, Monique W. M., Ekwattanakit, Supachai, Gollin, Yvonne, Hirata, Greigh, Jelin, Angie, Jolley, Jennifer, Meyer, Paul, Miller, Jena, Norton, Mary E., Ogasawara, Keith K., Panchalee, Tachjaree, Schindewolf, Erica, Shaw, Steven W., Stumbaugh, Tammy, Thompson, Alexis A., Towner, Dena, Tsai, Pai-Jong Stacy, Viprakasit, Vip, Volanakis, Emmanuel, Zhang, Li, Vichinsky, Elliott, MacKenzie, Tippi C.

Source: In Blood Advances 24 January 2023 7(2):269-279

The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing

Authors: Swanson, Kate, Norton, Mary E., Lianoglou, Billie R., Jelin, Angie C., Hodoglugil, Ugur, Ziffle, Jessica, Devine, Patrick, Sparks, Teresa N.

Source: Prenatal diagnosis. 42(10):1288-1294

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100162724693.0x000001&indx=1&recIds=ETOCvdc_100162724693.0x000001

Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants

Authors: Schwab, Marisa E., Dong, Shan, Lianoglou, Billie R., Aguilar Lucero, Alessandra F., Schwartz, Grace B., Norton, Mary E., MacKenzie, Tippi C., Sanders, Stephan J.

Source: American journal of surgery. 223(1):182-186

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152359474.0x000001&indx=1&recIds=ETOCvdc_100152359474.0x000001

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease

Authors: Cohen, Jennifer L., Chakraborty, Pranesh, Fung-Kee-Fung, Karen, Schwab, Marisa E., Bali, Deeksha, Young, Sarah P., Gelb, Michael H., Khaledi, Hamid, DiBattista, Alicia, Smallshaw, Stacey, Moretti, Felipe, Wong, Derek, Lacroix, Catherine, El Demellawy, Dina, Strickland, Kyle C., Lougheed, Jane, Moon-Grady, Anita, Lianoglou, Billie R., Harmatz, Paul, Kishnani, Priya S., MacKenzie, Tippi C.

Source: Obstetrical & gynecological survey. 78(6):315-317

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191493977.0x000001&indx=1&recIds=ETOCvdc_100191493977.0x000001

Mucopolysaccharidosis type VII (MPS VII): A novel, online GUSB gene variant database

Authors: Daugherty, Sean ^a, Hamazaki, Takashi ^b, Hegde, Madhuri ^c, Giugliani, Roberto ^d, MacKenzie, Tippi C. ^e, Dilworth, Lisa ^a, Kiel, Mark J. ^f, Japalaghi, Omid Khazaie ^a, Lianoglou, Billie R. ^e, Marsden, Deborah ^a, Merritt, J. Lawrence ^a, Nalin, Tatiele ^a, Pansare, Vikram ^a, Pollard, Laura ^g, Miller, Vanessa Rangel ^a, Richbourg, Heather ^a, Sparks, Teresa N. ^e, Miller, Nicole ^a

Source: In Molecular Genetics and Metabolism February 2025 144(2)

Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Authors: Sparks, Teresa N., Thao, Kao, Lianoglou, Billie R., Boe, Nina M., Bruce, Kari G., Datkhaeva, Ilina, Field, Nancy T., Fratto, Victoria M., Jolley, Jennifer, Laurent, Louise C., Mardy, Anne H., Murphy, Aisling M., Ngan, Emily, Rangwala, Naseem, Rottkamp, Catherine A.M., Wilson, Lisa, Wu, Erica, Uy, Cherry C., Valdez Lopez, Priscila, Norton, Mary E.

Source: In Genetics in Medicine June 2019 21(6):1339-1344

Patient understanding of prenatal exome sequencing

Authors: Swanson, Kate, Norton, Mary E, Ackerman, Sara L, Lianoglou, Billie R, Sahin-Hodoglugil, Nuriye N, Sparks, Teresa N

Source: In American Journal of Obstetrics & Gynecology MFM November 2024 6(11)

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

Authors: Sparks, Teresa N., Lianoglou, Billie R., Adami, Rebecca R., Pluym, Ilina D., Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L., Patel, Sachi, Faubel, Amanda, Boe, Nina M., Field, Nancy T., Murphy, Aisling, Laurent, Louise C., Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M., Devine, Patrick, Hodoglugil, Ugur, van Ziffle, Jessica, Sanders, Stephan J., MacKenzie, Tippi C., Norton, Mary E.

Source: Obstetrical & gynecological survey. 76(3):139-141

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176177804.0x000001&indx=1&recIds=ETOCvdc_100176177804.0x000001

Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis

Authors: Norton, Mary E., Ziffle, Jessica Van, Lianoglou, Billie R., Hodoglugil, Ugur, Devine, W. Patrick, Sparks, Teresa N.

Source: In American Journal of Obstetrics and Gynecology January 2022 226(1):128-128

Deep phenotyping expands our knowledge of fetal manifestations of genetic disease

Authors: Sparks, Teresa N., Lianoglou, Billie R., Hodoglugil, Nuriye Sahin, Swanson, Kate, Downum, Sarah L., Slavotinek, Anne, Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Norton, Mary E.

Source: American journal of obstetrics and gynecology. 228(S):S750-S751

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184897718.0x000001&indx=1&recIds=ETOCvdc_100184897718.0x000001

Postnatal phenotyping after negative prenatal exome sequencing for fetal anomalies

Authors: Swanson, Kate, Hodoglugil, Ugur, Sparks, Teresa N., Lianoglou, Billie R., Norton, Mary E.

Source: American journal of obstetrics and gynecology. 228(S):S49-S50

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180382410.0x000001&indx=1&recIds=ETOCvdc_100180382410.0x000001

Patient perspectives on the utility and impact of prenatal exome sequencing

Authors: Swanson, Kate, Sahin-Hodoglugil, Nuriye, Sparks, Teresa N., Ackerman, Sara, Lianoglou, Billie R., Downum, Sarah L., Norton, Mary E.

Source: American journal of obstetrics and gynecology. 228(S):S48-S49

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180382432.0x000001&indx=1&recIds=ETOCvdc_100180382432.0x000001

Resolution of hydrops fetalis: When does it occur?

Authors: Sparks, Teresa N., Lianoglou, Billie R., Hodoglugil, Nuriye Sahin, Swanson, Kate, Downum, Sarah L., Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Norton, Mary E.

Source: American journal of obstetrics and gynecology. 228(S):S236-S237

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180380207.0x000001&indx=1&recIds=ETOCvdc_100180380207.0x000001

Genetic etiologies of fetal brain malformations: How does gene panel coverage compare to exome sequencing?

Authors: Swanson, Kate, Shear, Matthew, Norton, Mary E., Lianoglou, Billie R., Sparks, Teresa N.

Source: American journal of obstetrics and gynecology. 228(S):S670-S671

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180376444.0x000001&indx=1&recIds=ETOCvdc_100180376444.0x000001

Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy

Authors: Young, Sarah, Lianoglou, Billie R., Herzeg, Akos, Borges, Beltran, Chakraborty, Pranesh, Bali, Deeksha, Gonzalez, Juan M., Canepa, Emma, Kishnani, Priya, Cohen, Jennifer L., Harmatz, Paul, MacKenzie, Tippi C.

Source: In Molecular Genetics and Metabolism February 2024 141(2)

Trust in prenatal exome sequencing for expectant families facing unexplained fetal anomalies.

Authors: Rothschild, Harriet T., Lianoglou, Billie R., Sahin Hodoglugil, Nuriye N., Tick, Katie, Brown, Julia E. H., Sparks, Teresa N.

Source: Prenatal Diagnosis; Mar2024, Vol. 44 Issue 3, p263-269, 7p

Rare single gene etiologies at risk for fetal anemia

Authors: Lianoglou, Billie R., Downum, Sarah L., Velez, Juan Gonzalez, Jelin, Angie, Rosner, Mara, Norton, Mary E., Sparks, Teresa N.

Source: American journal of obstetrics and gynecology. 228(S):S273-S273

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180379865.0x000001&indx=1&recIds=ETOCvdc_100180379865.0x000001

Molecular diagnoses in fetuses with megacystis/LUTO by prenatal ultrasound

Authors: Brar, Bobby, Blakemore, Karin, Hertenstein, Christine, Miller, Jena L., Miller, Kristen, Shamseldin, Hanan, Alkuraya, Fowzan, Lianoglou, Billie R., Sparks, Teresa N., Norton, Mary E., Jelin, Angie

Source: American journal of obstetrics and gynecology. 228(S):S274-S274

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100180379861.0x000001&indx=1&recIds=ETOCvdc_100180379861.0x000001

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.

Authors: Herzeg, Akos, Borges, Beltran, Lianoglou, Billie R., Gonzalez‐Velez, Juan, Canepa, Emma, Munar, Dane, Young, Sarah P., Bali, Deeksha, Gelb, Michel H., Chakraborty, Pranesh, Kishnani, Priya S., Harmatz, Paul, Cohen, Jennifer L., MacKenzie, Tippi C.

Source: Prenatal Diagnosis; Dec2023, Vol. 43 Issue 13, p1638-1649, 12p