An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes

Authors: Boucher, Lauren ¹, Nestler, Berkley ², Groepper, Daniel ³, Quillin, John ², Deyle, David ⁴, Halverson, Colin M.E. ^{5, 6, 7, 8, 9, ∗}

Source: In Genetics in Medicine Open 2025 3

Newborn screening for mucopolysaccharidosis type II: Lessons learned

Authors: Burton, Barbara K., Shively, Vera, Quadri, Allegra, Warn, Lauren, Burton, Jennifer, Grange, Dorothy K., Christensen, Katherine, Groepper, Daniel, Ashbaugh, Laura, Ehrhardt, Joan, Basheeruddin, Khaja

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

Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype

Authors: Fry, Deanna, Groepper, Daniel, MacCarrick, Gretchen, Demo, Erin M., Thomas, Matthew J., Wilkes, Margaret J., Lyons, Michael J., Tucker, Megan E., Steding, Catherine, Fleischer, Julie

Source: American journal of medical genetics.Part A. 188(7):2237-2241

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153540427.0x000001&indx=1&recIds=ETOCvdc_100153540427.0x000001

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

Authors: Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S. C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M. S., Madan‐Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz‐Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

Source: Epilepsia. 62(7):e103-e109

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100124903333.0x000001&indx=1&recIds=ETOCvdc_100124903333.0x000001

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Authors: Woerden, Geeske M., Bos, Melanie, Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske

Source: Human mutation. 42(4):445-459

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120102829.0x000001&indx=1&recIds=ETOCvdc_100120102829.0x000001

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience

Authors: Burton, Barbara K., Hoganson, George E., Fleischer, Julie, Grange, Dorothy K., Braddock, Stephen R., Hickey, Rachel, Hitchins, Lauren, Groepper, Daniel, Christensen, Katherine M., Kirby, Amelia, Moody, Conny, Shryock, Heather, Ashbaugh, Laura, Shao, Rong, Basheeruddin, Khaja

Source: In The Journal of Pediatrics November 2019 214:165-167

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Authors: Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D., Gassen, Koen, Steinraths, Michelle, Rice, Jennifer, Roeder, Elizabeth R., Littlejohn, Rebecca O., Srour, Myriam, Sebire, Guillaume, Accogli, Andrea, Héron, Delphine, Heide, Solveig, Nava, Caroline, Depienne, Christel, Larson, Austin, Niyazov, Dmitriy, Azage, Meron, Hoganson, George, Burton, Jennifer, Rush, Eric T., Jenkins, Janda L., Saunders, Carol J., Thiffault, Isabelle, Alaimo, Joseph T., Fleischer, Julie, Groepper, Daniel, Gripp, Karen W., Chung, Wendy K.

Source: American journal of medical genetics.Part A. 182(5):962-973

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107029412.0x000001&indx=1&recIds=ETOCvdc_100107029412.0x000001

An examination of psychosocial and professional effects of the COVID‐19 pandemic on genetic counselors.

Authors: Gostic, Nicole, Groepper, Daniel, Trinkle‐Tucker, Megan, Johnson, Malynnda, Niendorf, Kristin B.

Source: Journal of Genetic Counseling; Apr2024, Vol. 33 Issue 2, p269-280, 12p

P281: Atypical maternally inherited CDKN1C variant causing IMAGe syndrome in a newborn

Authors: Groepper, Daniel, Fleischer, Julie, Lyman, Jacqueline

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P239: Mosaic trisomy 17 and tetraploidy: A case report

Authors: Ryder, Zach, Groepper, Daniel, Soluade, Fiyinfoluwa, Adekola, Henry, Schriever, Morgan, Fleischer, Julie

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P110: Case report of APC promoter 1B deletion associated with classic FAP

Authors: O'Connor, Mary, Groepper, Daniel, Fleischer, Julie

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.

Authors: Poll, Sarah R.¹, Martin, Renan¹, Wohler, Elizabeth¹, Partan, Elizabeth S.¹, Walek, Elizabeth¹, Salman, Shaima¹, Groepper, Daniel², Kratz, Lisa¹, Cernach, Mirlene³, Jesus-Garcia, Reynaldo⁴, Haldeman-Englert, Chad⁵, Choi, Yoon Jae⁶, Morris, Carol D.^7,8, Cohen, Bernard⁹, Hoover-Fong, Julie¹, Valle, David¹, Semenza, Gregg L.¹, Sobreira, Nara L. M.¹, nsobrei2@jhmi.edu

Source: PLoS Genetics; 12/08/2022, Vol. 18 Issue 12, p1-19, 19p

P342: Broadening the phenotype of ABL1-associated disorder

Authors: Vincent, Christopher, Groepper, Daniel, Mubayed, Lamya, Fleischer, Julie

Source: In Genetics in Medicine Open 2023 1(1) Supplement

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eP407: Aberrant KCNQ1splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance

Authors: Thompson, Laura, Thoreson, Emily, Groepper, Daniel, Train, Laura, Meyer, Melanie, Glessner, Heather, Fleischer, Julie, Hasadsri, Linda, Baudhuin, Linnea

Source: Genetics in Medicine; March 2022, Vol. 24 Issue: 3, Number 3 Supplement 1 pS256-S256, 1p

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eP147 - Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

Authors: Fry, Deanna (AUTHOR), MacCarrick, Gretchen (AUTHOR), Groepper, Daniel (AUTHOR), Demo, Erin (AUTHOR), Fleischer, Julie (AUTHOR)

Source: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS98-S98. 1p.

Subject Terms: *PHENOTYPES, *SYNDROMES, *22Q11 deletion syndrome