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Research Interests

Papers共 25 篇Author StatisticsCo-AuthorSimilar Experts

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Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency
Jesmeen Maimaris, Adriel Roa-Bautista, Mahreen Sohail, Claire Booth, Chiara Cugno, Lenka Chenchara, Tawfeg Ben Omran, Yael Hacohen, Ming Lim, Kimberly Gilmour,Gillian Griffiths, Kanchan Rao, Reem Elfeky,Maaike Kusters
Journal of clinical immunologyno. 1 (2024): 50-50
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The Human Phenotype Ontology in 2024: Phenotypes Around the World
Michael A. Gargano,Nicolas Matentzoglu,Ben Coleman, Eunice B. Addo-Lartey,Anna Anagnostopoulos,Joel Anderton,Paul Avillach,Anita M. Bagley,Eduard Bakstein,James P. Balhoff,Gareth Baynam,Susan M. Bello,Michael Berk,Holli Bertram,Somer Bishop,Hannah Blau,David F. Bodenstein,Pablo Botas,Kaan Boztug, Jolana Cady,Tiffany J. Callahan,Rhiannon Cameron,Seth J. Carbon,Francisco Castellanos,J. Harry Caufield,Lauren E. Chan,Christopher G. Chute,Jaime Cruz-Rojo,Noemi Dahan-Oliel,Jon R. Davids, Maud de Dieuleveult,Vinicius de Souza,Bert B. A. de Vries,Esther de Vries,J. Raymond DePaulo,Beata Derfalvi,Ferdinand Dhombres,Claudia Diaz-Byrd,Alexander J. M. Dingemans,Bruno Donadille,Michael Duyzend,Reem Elfeky,Shahim Essaid, Carolina Fabrizzi,Giovanna Fico,Helen Firth,Yun Freudenberg-Hua,Janice M. Fullerton,Davera L. Gabriel,Kimberly Gilmour,Jessica Giordano,Fernando S. Goes, Rachel Gore Moses, Ian Green,Matthias Griese,Tudor Groza,Weihong Gu,Julia Guthrie,Benjamin Gyori,Ada Hamosh,Marc Hanauer,Katerina Hanusova,Yongqun (Oliver) He,Harshad Hegde,Ingo Helbig, Katerina Holasova,Charles Tapley Hoyt,Shangzhi Huang,Eric Hurwitz,Julius O. B. Jacobsen, Xiaofeng Jiang,Lisa Joseph,Kamyar Keramatian, Bryan King,Katrin Knoflach,David A. Koolen, Megan L. Kraus, Carlo Kroll,Maaike Kusters,Markus S. Ladewig,David Lagorce,Meng-Chuan Lai,Pablo Lapunzina,Bryan Laraway,David Lewis-Smith, Xiarong Li,Caterina Lucano,Marzieh Majd,Mary L. Marazita,Victor Martinez-Glez,Toby H. McHenry,Melvin G. McInnis,Julie A. McMurry, Michaela Mihulova,Caitlin E. Millett,Philip B. Mitchell,Veronika Moslerova, Kenji Narutomi,Shahrzad Nematollahi,Julian Nevado,Andrew A. Nierenberg, Nikola Novak Cajbikova,John I. Nurnberger,Soichi Ogishima, Daniel Olson,Abigail Ortiz,Harry Pachajoa,Guiomar Perez de Nanclares,Amy Peters,Tim Putman,Christina K. Rapp,Ana Rath,Justin Reese,Lauren Rekerle,Angharad M. Roberts, Suzy Roy,Stephan J. Sanders,Catharina Schuetz,Eva C. Schulte,Thomas G. Schulze,Martin Schwarz,Katie Scott,Dominik Seelow,Berthold Seitz,Yiping Shen,Morgan N. Similuk,Eric S. Simon, Balwinder Singh,Damian Smedley,Cynthia L. Smith, Jake T. Smolinsky,Sarah Sperry,Elizabeth Stafford,Ray Stefancsik,Robin Steinhaus,Rebecca Strawbridge,Jagadish Chandrabose Sundaramurthi, Polina Talapova,Jair A. Tenorio Castano,Pavel Tesner,Rhys H. Thomas,Audrey Thurm,Marek Turnovec,Marielle E. van Gijn,Nicole A. Vasilevsky,Marketa Vlckova,Anita Walden, Kai Wang,Ron Wapner,James S. Ware, Addo A. Wiafe,Samuel A. Wiafe,Lisa D. Wiggins,Andrew E. Williams, Chen Wu, Margot J. Wyrwoll, Hui Xiong,Nefize Yalin,Yasunori Yamamoto,Lakshmi N. Yatham,Anastasia K. Yocum,Allan H. Young,Zafer Yueksel,Peter P. Zandi,Andreas Zankl,Ignacio Zarante,Miroslav Zvolsky,Sabrina Toro,Leigh C. Carmody,Nomi L. Harris,Monica C. Munoz-Torres,Daniel Danis,Christopher J. Mungall,Sebastian Koehler,Melissa A. Haendel,Peter N. Robinson
Nucleic Acids Researchno. D1 (2023): D1333-D1346
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Author Statistics

#Papers: 24

#Citation: 404

H-Index: 9

G-Index: 10

Sociability: 6

Diversity: 2

Activity: 18

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