Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Bonnie Sullivan"'
Autor:
Bonnie Sullivan, Lauren Bartik
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101123- (2024)
Externí odkaz:
https://doaj.org/article/4b83261b12c64964b35cbadb5ef35e85
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101132- (2024)
Externí odkaz:
https://doaj.org/article/02e3801c0ab74a5293be615ec765239a
Autor:
Lauren Bartik, Elena Repnikova, Eric Rush, Jennifer Roberts, Erin Baldwin, John Carey, Lorenzo Botto, John O'Shea, Ting Wen, Pinar Bayrak-Toydemir, Rong Mao, Undiagnosed Diseases Network, Bonnie Sullivan
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101292- (2024)
Externí odkaz:
https://doaj.org/article/a508431bbc2e42f390b146ae7425c8f5
Autor:
Emily Farrow, Laura Cross, Bonnie Sullivan, Keely Fitzgerald, Ahmed Abdelmoity, Joseph Alaimo, Elena Repnikova, John Herriges, Lei Zhang
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100504- (2023)
Externí odkaz:
https://doaj.org/article/942c9ca6f2bc4ebf8536eb540c024196
Autor:
Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100618- (2023)
Externí odkaz:
https://doaj.org/article/ba08653b7f53417185316a2bd408f427
Autor:
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation
Externí odkaz:
https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364
Autor:
Stephanie A. Balow, Robert J. Hopkin, Sara Hopkin, K. Nicole Weaver, Howard M. Saal, Rolf W. Stottmann, Xue Zhang, Patricia L. Bender, Brian S. Pan, Bonnie Sullivan, Barbara A. Chini
Publikováno v:
American Journal of Medical Genetics Part A. 188:160-177
Robin sequence (RS), the triad of micrognathia, glossoptosis, and airway obstruction, is a major cause of respiratory distress and feeding difficulties in neonates. Robin sequence can be associated with other medical or developmental comorbidities in
Autor:
Elizabeth K. Baker, Beulah Solivio, Ben Pode‐Shakked, Laura Ann Cross, Bonnie Sullivan, Annick Raas‐Rothschild, Odelia Chorin, Ortal Barel, Omer Bar‐Yosef, Ammar Husami, Robert J. Hopkin, Carlos E. Prada, Rolf W. Stottmann, Kathryn Nicole Weaver
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(11)
Protein phosphatase 2A (PP2A) is a heterotrimeric serine/threonine phosphatase that regulates numerous biological processes. PPP2R1A encodes the scaffolding "Aα" subunit of PP2A. To date, nearly 40 patients have been previously reported with 19 diff
Autor:
Rolf W. Stottmann, Farrah Jackson, Howard M. Saal, Bonnie Sullivan, Katherine Abell, Robert J. Hopkin, Patricia L. Bender, Kelly Smallwood, K. Nicole Weaver
Publikováno v:
Am J Med Genet A
Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individua
Autor:
Suha Salim, Peter I. Benke, Friedhelm Hildebrandt, Khalid Alhasan, Stacey Kiat Hong Tay, Abdullah A. Alangari, Isaac Desheng Liu, Federico Torta, Nicole Weaver, Bonnie Sullivan, Karin Chen, Piming Zhao, Megan A. Cooper, Emily Tang, Alwin Loh, Markus R. Wenk, Jeffrey B. Hodgin, James A. Endrizzi, Weixing Ou, Jeremy Selva, Julie D. Saba, Olivia West, Austin Larson, Evren Gumus, Hui Kim Yap, Martin Zenker, Denise Li Meng Goh
Publikováno v:
J Inherit Metab Dis
Sphingosine-1-phosphate (S1P) lyase is a vitamin B6-dependent enzyme that degrades sphingosine-1-phosphate in the final step of sphingolipid metabolism. In 2017, a new inherited disorder was described caused by mutations in SGPL1, which encodes sphin