Sanders, Stephan J
Mayo Clinic
Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.
Citations 2
The Human Phenotype Ontology in 2024: phenotypes around the world
Gargano, Michael , Matentzoglu, Nicolas , Coleman, Ben , Addo-Lartey, Eunice B, Anagnostopoulos, Anna V. , Anderton, Joel , Avillach, Paul , Bagley, Anita , Bakštein, Eduard , Balhoff, James P. , Baynam, Gareth , Bertram, Holli , Bishop, Somer , Bodenstein, David F. , Botas, Pablo , Cady, J , Cameron, Rhiannon , Castellanos, F , Chan, Lauren , Cruz-Rojo, Jaime , Dahan‐Oliel, Noémi , Davids, Jon R. , Dieuleveult, Maud de , Souza, Vinícius de , Vries, Bert B.A. de , Diaz‐Byrd, Claudia , Duyzend, Michael , Elfeky, Reem , Essaid, Shahim , Fabrizzi, Carolina , Freudenberg‐Hua, Yun , Gabriel, Davera , Moses, Rachel Gore , Green, Ian, Gu, Weihong, Guthrie, Julia, Hamosh, Ada , Hanauer, Marc , Hanušová, Kateřina , He, Yongqun , Helbig, Ingo , Huang, Shangzhi, Joseph, Lisa , Keramatian, Kamyar , King, Bryan , Knoflach, Katrin , Koolen, David A. , Kraus, Megan L , Kroll, Carlo , Kusters, Maaike , Ladewig, Markus S. , Lagorce, David , Laraway, Bryan , Li, Xiarong, Lucano, Caterina , Marazita, Mary L. , Martínez‐Glez, Víctor , McHenry, Toby H, McInnis, Melvin G. , Mihulová, Michaela , Millett, Caitlin E. , Moslerová, Veronika , Narutomi, Kenji, Nevado, Julián , Nierenberg, Andrew A. , Čajbiková, Nikola Novák , Ogishima, Soichi , Olson, Daniel , Ortiz, Abigail, Nanclares, Guiomar Pérez de , Peters, Amy T. , Rapp, Christina , Rath, Ana , Rekerle, Lauren , Roberts, Angharad M. , Roy, Suzy, Sanders, Stephan , Schuetz, Catharina , Schwarz, Martin , Scott, Katie , Seelow, Dominik , Seitz, Berthold , Shen, Yiping , Similuk, Morgan , Simon, Eric S. , Singh, Balwinder , Smith, Cynthia L. , Smolinsky, Jake T , Stafford, Elizabeth , Stefancsik, Ray , Steinhaus, Robin , Strawbridge, Rebecca , Sundaramurthi, Jagadish Chandrabose , Talapova, Polina , Castano, Jair A Tenorio , Tesner, Pavel , Thomas, Rhys H. , Turnovec, Marek , Gijn, Mariëlle van , Vlčková, Markéta , Walden, Anita , Ware, James S. , Wiafe, Addo A, Wiafe, Samuel Agyei , Wiggins, Lisa D. , Williams, Andrew E. , Wu, Chen , Xiong, Hui, Yalın, Nefize , Yamamoto, Yasunori , Yatham, Lakshmi N. , Yocum, Anastasia K. , Young, Allan H. , Yüksel, Zafer , Zandi, Peter P. , Zvolský, Miroslav , Carmody, Leigh , Harris, Nomi L. , Muñoz-Torres, Mónica , Daniš, Daniel , Mungall, Chris , Haendel, Melissa , Robinson, Peter N. , Gargano, Michael A , Bagley, Anita M , Bello, Susan M , Berk, Michael , Bertram, Holli , Bishop, Somer , Blau, Hannah , Bodenstein, David F , Botas, Pablo , Boztug, Kaan , Čady, Jolana , Callahan, Tiffany J , Cameron, Rhiannon , Carbon, Seth J , Castellanos, Francisco , Caufield, J Harry , Chan, Lauren E , Chute, Christopher G , Cruz-Rojo, Jaime , Dahan-Oliel, Noémi , Davids, Jon R , de Dieuleveult, Maud , de Vries, Bert B A , de Vries, Esther , DePaulo, J Raymond , Derfalvi, Beata , Dhombres, Ferdinand , Diaz-Byrd, Claudia , Dingemans, Alexander J M , Donadille, Bruno , Duyzend, Michael , Elfeky, Reem , Essaid, Shahim , Fabrizzi, Carolina , Fico, Giovanna , Firth, Helen V , Freudenberg-Hua, Yun , Fullerton, Janice M , Gilmour, Kimberly , Giordano, Jessica , Goes, Fernando , Moses, Rachel Gore , Griese, Matthias , Groza, Tudor , Guthrie, Julia , Gyori, Benjamin , Hamosh, Ada , Hanauer, Marc , Hanušová, Kateřina , He, Yongqun , Hegde, Harshad , Helbig, Ingo , Holasová, Kateřina , Hoyt, Charles Tapley , Hurwitz, Eric , Jacobsen, Julius O B , Joseph, Lisa , Keramatian, Kamyar , King, Bryan , Knoflach, Katrin , Koolen, David A , Kraus, Megan L , Kusters, Maaike , Ladewig, Markus S , Lagorce, David , Lai, Meng-Chuan , Lapunzina, Pablo , Laraway, Bryan , Lewis-Smith, David , Lucano, Caterina , Majd, Marzieh , Marazita, Mary L , Martinez-Glez, Victor , McInnis, Melvin G , McMurry, Julie A , Mihulová, Michaela , Millett, Caitlin E , Mitchell, Philip B , Moslerová, Veronika , Nematollahi, Shahrzad , Nevado, Julian , Nierenberg, Andrew A , Čajbiková, Nikola Novák , Nurnberger, John I , Ogishima, Soichi , Olson, Daniel , Ortiz, Abigail , Pachajoa, Harry , Perez de Nanclares, Guiomar , Peters, Amy T , Putman, Tim , Rath, Ana , Reese, Justin , Rekerle, Lauren , Sanders, Stephan J , Schuetz, Catharina , Schulte, Eva , Schulze, Thomas , Schwarz, Martin , Scott, Katie , Seelow, Dominik , Seitz, Berthold , Similuk, Morgan N , Simon, Eric S , Singh, Balwinder , Smedley, Damian , Smith, Cynthia L , Smolinsky, Jake T , Sperry, Sarah , Stafford, Elizabeth , Stefancsik, Ray , Steinhaus, Robin , Strawbridge, Rebecca , Sundaramurthi, Jagadish Chandrabose , Talapova, Polina , Tenorio Castano, Jair A , Tesner, Pavel , Thomas, Rhys H , Thurm, Audrey , Turnovec, Marek , van Gijn, Marielle E , Vasilevsky, Nicole A , Vlčková, Markéta , Walden, Anita , Wang, Kai , Wapner, Ron , Ware, James S , Wiafe, Samuel A , Wiggins, Lisa D , Williams, Andrew , Wyrwoll, Margot J , Yalin, Nefize , Yamamoto, Yasunori , Yatham, Lakshmi N , Yocum, Anastasia K , Young, Allan H , Yüksel, Zafer , Zandi, Peter P , Zankl, Andreas , Zarante, Ignacio , Zvolský, Miroslav , Toro, Sabrina , Carmody, Leigh C , Harris, Nomi L , Munoz-Torres, Monica C , Danis, Daniel , Mungall, Christopher J , Köhler, Sebastian , Haendel, Melissa , Robinson, Peter N , Berk, Michael , Chute, Christopher G. , Fico, Giovanna , Fullerton, Janice M. , Giordano, Jessica L. , Jiang, Xiaofeng , Lai, Meng‐Chuan , Schulte, Eva C. , Smedley, Damian , Sperry, Sarah H. , Xiong, Hui
Nucleic Acids Research | October 19, 2023 | Volume: 52 | Issue: D1 | Pages: D1333-D1346
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs.
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino, Gaia , El-Fishawy, Paul, Kayserili, Hülya , Meguid, Nagwa A. , Scott, Eric , Schroth, Jana, Silhavy, Jennifer L., Kara, Majdi , Khalil, Rehab O., Ben‐Omran, Tawfeg , Ercan‐Sencicek, A. Gulhan , Hashish, Adel F. , Sanders, Stephan , Gupta, Abha R. , Hashem, Hebatalla S., Matern, Dietrich , Gabriel, Stacey , Sweetman, Larry, Rahimi, Yasmeen, Harris, Robert A. , State, Matthew W. , Gleeson, Joseph G. , Sanders, Stephan J
Science | September 6, 2012 | Volume: 338 | Issue: 6105 | Pages: 394-397
A Fine Balance Intellectual and neurological disabilities can arise from diverse developmental aberrations. Novarino et al. (p. 394 , published online 6 September; see the Perspective by Beaudet ) have now determined the genetic basis for one such disorder for a small group of patients. Exome sequencing led to identification of mutations in a kinase BCKDK ( Branched Chain Ketoacid Dehydrogenase Kinase ) that regulates metabolism of branched-chain amino acids such as valine, leucine, and isoleucine. Mice with homozygous mutations in the BCKDK gene showed developmental and neurological abnormalities resembling those in certain mouse autism models. Analysis of transport mechanisms responsible for carrying amino acids across the blood-brain barrier revealed competition between the branched-chain amino acids and large neutral amino acids. Nutritional supplementation with extra branched-chain amino acids in the diet of mice carrying homozygous mutations in the BCKDK gene normalized their phenotype.