Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Authors: Goldstein, Jennifer L., McGlaughon, Jennifer, Kanavy, Dona, Goomber, Shelly, Pan, Yinghong, Deml, Brett, Donti, Taraka, Kearns, Liz, Seifert, Bryce A., Schachter, Miriam, Son, Rachel G., Thaxton, Courtney, Udani, Rupa, Bali, Deeksha, Baudet, Heather, Caggana, Michele, Hung, Christina, Kyriakopoulou, Lianna, Rosenblum, Lynne, Steiner, Robert, Pinto e Vairo, Filippo, Wang, Yang, Watson, Michael, Fernandez, Raquel, Weaver, Meredith, Clarke, Lorne, Rehder, Catherine

Source: In Molecular Genetics and Metabolism September-October 2023 140(1-2)

Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome

Authors: Jacquart, Amanda, Schilter, Kala F., Udani, Rupa, Evans, Douglas, Carroll, Ty B., Reddi, Honey V.

Source: Clinical genetics. 104(1):139-141

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184652005.0x000001&indx=1&recIds=ETOCvdc_100184652005.0x000001

Implementation of an Active Screening Program for SARS-CoV2 — Experience at an Academic Medical Center

Authors: Udani, Rupa [and others]

Source: WMJ. 121(3):235-238

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN630664262&indx=1&recIds=ETOCRN630664262

A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.

Authors: Udani, Rupa^1,2 (AUTHOR), Schilter, Kala F.¹ (AUTHOR), Tyler, Rebecca C.¹ (AUTHOR), Smith, Brandon A.¹ (AUTHOR), Wendt-Andrae, Jaime L.¹ (AUTHOR), Kappes, Ulrike P.^1,2,3,4 (AUTHOR), Scharer, Gunter¹ (AUTHOR), Lehman, Anna⁵ (AUTHOR), Steinraths, Michelle⁵ (AUTHOR), Reddi, Honey V.^1,3,6 (AUTHOR) hreddi@mcw.edu

Source: Journal of Genetics. Jun2023, Vol. 102 Issue 1, p1-5. 5p.

Subject Terms: *DILATED cardiomyopathy, *INFANT mortality, *MOSAICISM, *MEDICAL genetics, *STILLBIRTH

Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions.

Authors: Ahmed, Gulrayz, Abdelgadir, Yasir, Abdelghani, Amro, Simpson, Pippa, Barbeau, Jody, Basel, Donald, Barrios, Christy S., Smith, Brandon A, Schilter, Kala F, Udani, Rupa, Reddi, Honey V., Willoughby, Rodney E.

Source: BMC Infectious Diseases; 7/3/2024, Vol. 24, p1-11, 11p

Subject Terms: COVID-19 pandemic, MONONUCLEAR leukocytes, ANGIOTENSIN converting enzyme, GENE expression, POST-acute COVID-19 syndrome

Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD

Authors: Flood, Veronica H. ^*, Johnsen, Jill M., Kochelek, Caroline, Slobodianuk, Tricia L., Christopherson, Pamela A., Haberichter, Sandra L., Udani, Rupa, Bellissimo, Daniel B., Friedman, Kenneth D., Montgomery, Robert R.

Source: In Research and Practice in Thrombosis and Haemostasis April 2018 2(2):390-398

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Authors: Kasak, Laura, Hunter, Jesse M., Udani, Rupa, Bakolitsa, Constantina, Hu, Zhiqiang, Adhikari, Aashish N., Babbi, Giulia, Casadio, Rita, Gough, Julian, Guerrero, Rafael F., Jiang, Yuxiang, Joseph, Thomas, Katsonis, Panagiotis, Kotte, Sujatha, Kundu, Kunal, Lichtarge, Olivier, Martelli, Pier Luigi, Mooney, Sean D., Moult, John, Pal, Lipika R., Poitras, Jennifer, Radivojac, Predrag, Rao, Aditya, Sivadasan, Naveen, Sunderam, Uma, Saipradeep, V. G., Yin, Yizhou, Zaucha, Jan, Brenner, Steven E., Meyn, M. Stephen

Source: Human mutation. 40(9):1373-1391

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088915291.0x000001&indx=1&recIds=ETOCvdc_100088915291.0x000001

Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States

Authors: Flood, Veronica H. ^*, Christopherson, Pamela A., Gill, Joan Cox, Friedman, Kenneth D., Haberichter, Sandra L., Bellissimo, Daniel B., Udani, Rupa A., Dasgupta, Mahua, Hoffmann, Raymond G., Ragni, Margaret V., Shapiro, Amy D., Lusher, Jeanne M., Lentz, Steven R., Abshire, Thomas C., Leissinger, Cindy, Hoots, W. Keith, Manco-Johnson, Marilyn J., Gruppo, Ralph A., Boggio, Lisa N., Montgomery, Kate T., Goodeve, Anne C., James, Paula D., Lillicrap, David, Peake, Ian R., Montgomery, Robert R.

Source: In Blood 19 May 2016 127(20):2481-2488

Long-term retinal imaging of a case of suspected congenital rubella infection

Authors: Langlo, Christopher S., Trotter, Alana, Reddi, Honey V., Schilter, Kala F., Tyler, Rebecca C., Udani, Rupa, Neitz, Maureen, Carroll, Joseph, Connor, Thomas B.

Source: In American Journal of Ophthalmology Case Reports March 2022 25

Rapid Assessment of Drug Susceptibilities of Mycobacterium tuberculosis by Means of Luciferase Reporter Phages

Authors: Jacobs,, William R., Barletta, Raúl G., Udani, Rupa, Chan, John, Kalkut, Gary, Sosne, Gabriel, Kieser, Tobias, Sarkis, Gary J., Hatfull, Graham F., Bloom, Barry R.

Source: Science, 1993 May 01. 260(5109), 819-822.

Access URL: https://www.jstor.org/stable/2881174

Progeny of germ line knockouts of ASI2, a gene encoding a putative signal transduction receptor in Tetrahymena thermophila, fail to make the transition from sexual reproduction to vegetative growth

Authors: Li, Shuqiang, Yin, Lihui, Cole, Eric S., Udani, Rupa A., Karrer, Kathleen M.

Source: In Developmental Biology 2006 295(2):633-646

4. Non-invasive prenatal screening: Understanding the underlying mechanisms for discordance

Authors: Udani, Rupa, Oxendine, Kim, Laffin, Jennifer, Horner, Vanessa

Source: Cancer genetics. 224:52-52

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100064053582.0x000001&indx=1&recIds=ETOCvdc_100064053582.0x000001

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Laboratory-Developed MLPA® Probes Enable CNV Detection in the CFHR4 Gene to Aid aHUS Genetic Evaluation

Authors: Pirelli, Kevin ^*, Czajkowski, Curt ^*, Mladenova, Veronika ^*, Dugan, Stefanie ^*, Trapp-Stamborski, Valerie ^*, Friedman, Kenneth D, Udani, Rupa A

Source: In Blood 2 December 2016 128(22):1361-1361

Genetic Evaluation in aHUS: Characterization of a Variant of Unknown Significance in CFHR3

Authors: Trapp-Stamborski, Valerie ^*, Dugan, Stefanie N ^*, Friedman, Kenneth D, Anderson, Matthew ^*, Udani, Rupa A

Source: In Blood 3 December 2015 126(23):1053-1053

Domain Distribution of Type 1 VWD Sequence Variants and Impact on Clinical and Laboratory Phenotype in the Zimmerman Program

Authors: Christopherson, Pamela A ^*, Flood, Veronica H, Haberichter, Sandra L, Bellissimo, Daniel B, Friedman, Kenneth D, Gill, Joan Cox, Udani, Rupa A, Montgomery, Robert R

Source: In Blood 3 December 2015 126(23):758-758

Phenotypic Variability in Carriers of Von Willebrand Factor Truncating Sequence Variants in the Zimmerman Program

Authors: Bellissimo, Daniel B, Udani, Rupa A, Christopherson, Pamela A. ^*, Friedman, Kenneth D., Gill, Joan Cox, Haberichter, Sandra L., Montgomery, Robert R, Flood, Veronica H.

Source: In Blood 6 December 2014 124(21):2833-2833

The Management of Bleeding Risk in Von Willebrand Disease: Should Blood Group O Make a Difference?

Authors: Gill, Joan Cox, Flood, Veronica H, Christopherson, Pamela A ^*, Bellissimo, Daniel B, Friedman, Kenneth D, Haberichter, Sandra L, Udani, Rupa A, Montgomery, Robert R., Investigators, The Zimmerman Program ^*

Source: In Blood 6 December 2014 124(21):2829-2829