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研究兴趣

论文共 215 篇作者统计合作学者相似作者

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O37: One Test Fits All: Clinical HiFi Sequencing for Pediatric Rare Disease
Carol Saunders,Isabelle Thiffault, Cassandra Barrett, Joseph Alaimo, Charlie Bi, Margaret Gibson,Byunggil Yoo, Tomi Pastinen,Emily Farrow, Ana Cohen
Genetics in Medicine Open (2025): 102113
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Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti
Monica H Wojcik, Robin D Clark,Abdallah F Elias,Casie A Genetti,Jill A Madden, Dana Simpson, Linda Golkar,Miranda Pg Zalusky,Angela L Miller, Araceli Rodriguez,Joy Goffena, Camille A Dash,Nikhita Damaraju, Sophia B Gibson, Sophia Hr Storz, Zach Anderson,Jonas A Gustafson,Isabelle Thiffault,Emily G Farrow,Tomi Pastinen,Jasmine Lin, Jennifer Huang, Alan H Beggs,Pankaj B Agrawal, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, David T Miller,Danny E Miller
Research square (2025)
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Androgens Mediate Sexual Dimorphism in Pilarowski-Bjornsson Syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif Almontashiri,Brenda J Barry,Matthias Begemann, Jacquelyn F Britton, Sarah Burke, Benjamin Cogne,Ana S A Cohen, Carles de Diego Boguñá, Evan E Eichler,Elizabeth C Engle,Jill A Fahrner,Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R Harris,Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A Jurgens, Stanislav Kmoch,Cordula Knopp, Meral Aktas Koptagel, Farah A Ladha,Pablo Lapunzina, Tobias Lindau,Marije Meuwissen, Andreina Minicucci,Emily Neuhaus,Mathilde Nizon, Lenka Nosková,Kristen Park,Chirag Patel,Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld,Margarita Saenz,Carol Saunders,Zornitza Stark,Isabelle Thiffault, Sarah Thull,Danita Velasco, Clara Velmans, Jolijn Verseput,Antonio Vitobello,Tianyun Wang, Karin Weiss,Ingrid M Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine,Kári Stefánsson, Agnar Helgason, Gregory D Bowman, Hans Tomas Bjornsson
medRxiv the preprint server for health sciences（2025）
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Association of Rare Variants in Kidney Developmental Genes with Chronic Kidney Disease and Blood Pressure: A UK Biobank Study
Benjamin L Spector,Byunggil Yoo, Neil Miller, Monica Gaddis,Isabelle Thiffault,Laurel Willig
WMJ official publication of the State Medical Society of Wisconsinno. 1 (2025): 27-35
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作者统计

#Papers: 215

#Citation: 4465

H-Index: 38

G-Index: 63

Sociability: 8

Diversity: 3

Activity: 71

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