The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development
Sajan, Samin A, Brown, Carolyn M, Davis-Keppen, Laura, Burns, Kaitlyn, Royer, Erin, Coleman, Jessica A Cooley, Hilton, Benjamin A, DuPont, Barbara R, Perry, Denise L, Taft, Ryan J, Kesari, Akanchha
Published in American journal of medical genetics. Part A (01.12.2023)
Published in American journal of medical genetics. Part A (01.12.2023)
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Journal Article
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion
Somsen, David, Davis-Keppen, Laura, Crotwell, Patricia, Flanagan, Jason, Munson, Patrick, Stein, Quinn
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Journal Article
An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)
Stein, Quinn P., Vockley, Cate Walsh, Edick, Mathew J., Zhai, Shaohui, Hiner, Sally J., Loman, Rebecca S., Davis-Keppen, Laura, Zuck, Taylor A., Cameron, Cynthia A., Berry, Susan A.
Published in Journal of genetic counseling (01.12.2017)
Published in Journal of genetic counseling (01.12.2017)
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Journal Article
P001: Outcomes In 14 live births resulting from pegvaliase-treated pregnancies in females with PKU
Bier, Caide, Dickey, Kaelin, Andersson, Hans, McNutt, Markey, Vice, Danielle, Cooney, Erin, Morand, Megan, Ray, Joseph, Sponberg, Rebecca, Chang, Richard, Boyer, Monica, Bibb, Brittan, Crutcher, Angela, Lah, Melissa, Davis-Keppen, Laura, Matthes, Cindy
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern
Stein, Quinn P., Boyle, Jeffrey G., Crotwell, Patricia L., Flanagan, Jason D., Johnson, Kiley J., Davis-Keppen, Laura, Van Eerden, Peter, Woltanski, Amelia R., Watson, William J.
Published in Prenatal diagnosis (01.12.2008)
Published in Prenatal diagnosis (01.12.2008)
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Journal Article
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
PEDERSEN, Christina B, BISCHOFF, Claus, WANDERS, Ronald J. A, RUITER, Jos P. N, KEPPEN, Laura D, STEIN, Quinn, KNUDSEN, Inga, GREGERSEN, Niels, ANDRESEN, Brage S, CHRISTENSEN, Ernst, SIMONSEN, Henrik, LUND, Allan M, YOUNG, Sarah P, KOEBERL, Dwight D, MILLINGTON, David S, ROE, Charles R, ROE, Diane S
Published in Pediatric research (01.09.2006)
Published in Pediatric research (01.09.2006)
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Lessons learned from 5-years of experience with pegvaliase in US clinics: A case series
Cooney, Erin, Ammous, Zineb, Andersson, Hans, Bender, Tricia, Clague, Gillian, Clifford, Marilyn, Crutcher, Angela, Davis-Keppen, Laura, Havens, Kirsten, Lah, Melissa, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Vucko, Erika, Wardley, Bridget, Wessenberg, Leah
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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Journal Article
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
Bier, Caide, Dickey, Kaelin, Bibb, Brittan, Crutcher, Angela, Sponberg, Rebecca, Chang, Richard, Boyer, Monica, Davis-Keppen, Laura, Matthes, Cindy, Tharp, Michelle, Vice, Danielle, Cooney, Erin, Morand, Megan, Ray, Joseph, Lah, Melissa, McNutt, Markey, Andersson, Hans C.
Published in Molecular genetics and metabolism (01.03.2024)
Published in Molecular genetics and metabolism (01.03.2024)
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Journal Article
Multiple molecular diagnoses in individual patients identified through whole genome sequencing
Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP238 - Multiple molecular diagnoses in individual patients identified through whole genome sequencing
Malhotra, Alka, Thorpe, Erin, Ortega, Julia, Masser-Frye, Diane, Jones, Marilyn, Royer, Erin, Ohden, Lisa, Davis-Keppen, Laura, Belmont, John, Perry, Denise, Taft, Ryan
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, Taft, Ryan J.
Published in American journal of human genetics (11.07.2024)
Published in American journal of human genetics (11.07.2024)
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Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Accogli, Andrea, Lin, Sheng-Jia, Severino, Mariasavina, Kim, Sung-Hoon, Huang, Kevin, Rocca, Clarissa, Landsverk, Megan, Zaki, Maha, Al-Maawali, Almundher, srinivasan, Varunvenkat M., Al-Thihli, Khalid, Schaefer, G. Bradly, Davis, Monica, Tonduti, Davide, Doneda, Chiara, Marten, Lara M., Mühlhausen, Chris, Gomez, Maria, Lamantea, Eleonora, Mena, Rafael, Nizon, Mathilde, Procaccio, Vincent, Begtrup, Amber, Telegrafi, Aida, Cui, Hong, Schulz, Heidi L., Mohr, Julia, Biskup, Saskia, Loos, Mariana Amina, Aráoz, Hilda Verónica, Salpietro, Vincenzo, Keppen, Laura Davis, Chitre, Manali, Petree, Cassidy, Raymond, Lucy, Vogt, Julie, Swayer, Lindsey B., Basinger, Alice A., Pedersen, Signe Vandal, Pearson, Toni S., Grange, Dorothy K., Lingapp, Lokesh, McDunnah, Paige, Horvath, Rita, Cogne, Benjamin, Isidor, Bertrand, Hahn, Andreas, Gripp, Karen, Jafarnejad, Seyed Mehdi, Ostergaard, Elsebet, Prada, Carlos E., Ghezzi, Daniele, Gowda, Vykuntaraju K., Taylor, Robert W., Sonenberg, Nahum, Houlden, Henry, Sissler, Marie, Varshney, Gaurav K., Maroofian, Reza
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Deignan, Joshua L., Kang, Sung-Hae, Arboleda, Valerie A., Senaratne, T. Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S., Kianmahd, Jessica, Hinkamp, Franceska L., Neustadt, Ahna M., Martinez-Agosto, Julian A., Fogel, Brent L., Quintero-Rivera, Fabiola, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6
Masotti, Andrea, Uva, Paolo, Davis-Keppen, Laura, Basel-Vanagaite, Lina, Cohen, Lior, Pisaneschi, Elisa, Celluzzi, Antonella, Bencivenga, Paola, Fang, Mingyan, Tian, Mingyu, Xu, Xun, Cappa, Marco, Dallapiccola, Bruno
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Journal Article
Novel variants identified in CKAP2L in two siblings with Filippi syndrome
Patrick, Ryan J, Weimer, Jill, Davis-Keppen, Laura, Landsverk, Megan L
Published in Cold Spring Harbor molecular case studies (01.02.2022)
Published in Cold Spring Harbor molecular case studies (01.02.2022)
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Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
Slavotinek, Anne, van Hagen, Johanna M., Kalsner, Louisa, Pai, Shashidhar, Davis-Keppen, Laura, Ohden, Lisa, Weber, Yvonne G., Macke, Erica L., Klee, Eric W., Morava, Eva, Gunderson, Lauren, Person, Richard, Liu, Shuxi, Weiss, Marjan
Published in European journal of medical genetics (01.04.2020)
Published in European journal of medical genetics (01.04.2020)
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Journal Article
Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97kb Xp22.2 microdeletion
Somsen, David, Davis-Keppen, Laura, Crotwell, Patricia, Flanagan, Jason, Munson, Patrick, Stein, Quinn
Published in American journal of medical genetics. Part A (01.05.2014)
Published in American journal of medical genetics. Part A (01.05.2014)
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Journal Article
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M.J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
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