Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74
Mardy, Anne H., Hodoglugil, Ugur, Yip, Tiffany, Slavotinek, Anne M.
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
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Journal Article
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
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
Published in The New England journal of medicine (29.10.2020)
Published in The New England journal of medicine (29.10.2020)
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Journal Article
Introducing in AJMG Part A: Genetic Syndromes in Adults
Slavotinek, Anne M., Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.08.2019)
Published in American journal of medical genetics. Part A (01.08.2019)
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Journal Article
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Riedhammer, Korbinian M, Burgemeister, Anna L, Cantagrel, Vincent, Amiel, Jeanne, Siquier-Pernet, Karine, Boddaert, Nathalie, Hertecant, Jozef, Kannouche, Patricia L, Pouvelle, Caroline, Htun, Stephanie, Slavotinek, Anne M, Beetz, Christian, Diego-Alvarez, Dan, Kampe, Kapil, Fleischer, Nicole, Awamleh, Zain, Weksberg, Rosanna, Kopajtich, Robert, Meitinger, Thomas, Suleiman, Jehan, El-Hattab, Ayman W
Published in Human molecular genetics (10.09.2022)
Published in Human molecular genetics (10.09.2022)
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A dyadic approach to the delineation of diagnostic entities in clinical genomics
Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.
Published in American journal of human genetics (07.01.2021)
Published in American journal of human genetics (07.01.2021)
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Journal Article
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
Amendola, Laura M., Berg, Jonathan S., Horowitz, Carol R., Angelo, Frank, Bensen, Jeannette T., Biesecker, Barbara B., Biesecker, Leslie G., Cooper, Gregory M., East, Kelly, Filipski, Kelly, Fullerton, Stephanie M., Gelb, Bruce D., Goddard, Katrina A.B., Hailu, Benyam, Hart, Ragan, Hassmiller-Lich, Kristen, Joseph, Galen, Kenny, Eimear E., Koenig, Barbara A., Knight, Sara, Kwok, Pui-Yan, Lewis, Katie L., McGuire, Amy L., Norton, Mary E., Ou, Jeffrey, Parsons, Donald W., Powell, Bradford C., Risch, Neil, Robinson, Mimsie, Rini, Christine, Scollon, Sarah, Slavotinek, Anne M., Veenstra, David L., Wasserstein, Melissa P., Wilfond, Benjamin S., Hindorff, Lucia A., Plon, Sharon E., Jarvik, Gail P.
Published in American journal of human genetics (06.09.2018)
Published in American journal of human genetics (06.09.2018)
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Journal Article
Going forward in a new world
Slavotinek, Anne M., Solomon, Benjamin D.
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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Journal Article
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae
Eppley, Sarah, Hopkin, Robert J., Mendelsohn, Bryce, Slavotinek, Anne M.
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Journal Article
S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome
Chen, Fuying, Ni, Cheng, Wang, Xiaoxiao, Cheng, Ruhong, Pan, Chaolan, Wang, Yumeng, Liang, Jianying, Zhang, Jia, Cheng, Jinke, Chin, Y Eugene, Zhou, Yi, Wang, Zhen, Guo, Yiran, Chen, She, Htun, Stephanie, Mathes, Erin F, de Alba Campomanes, Alejandra G, Slavotinek, Anne M, Zhang, Si, Li, Ming, Yao, Zhirong
Published in EMBO molecular medicine (09.05.2022)
Published in EMBO molecular medicine (09.05.2022)
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Journal Article
The FgfrL1 receptor is required for development of slow muscle fibers
Amann, Ruth, Wyder, Stefan, Slavotinek, Anne M., Trueb, Beat
Published in Developmental biology (15.10.2014)
Published in Developmental biology (15.10.2014)
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Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited
Douglas, Michael P., Parker, Stephanie L., Trosman, Julia R., Slavotinek, Anne M., Phillips, Kathryn A.
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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