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Papers共 121 篇Author StatisticsCo-AuthorSimilar Experts

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The Utility of Ultra-Deep RNA Sequencing in Mendelian Disorder Diagnostics
Sen Zhao,Jefferson C Sinson, Shenglan Li,Jill A Rosenfeld,Gladys Zapata, Kristina Macakova, Mezthly Pena, Becky Maywald,Kim C Worley,Lindsay Burrage,Monika Weisz Hubshman,Shamika Ketkar,William Craigen,Lisa Emrick,Undiagnosed Diseases Network, Tyson Clark, Gila Yanai Lithwick, Zohar Shipony,Christine Eng,Brendan Lee,Pengfei Liu
medRxiv the preprint server for health sciences (2025)
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Reporting ABCD1 Variants As Actionable Secondary Findings on Exome and Genome Sequencing
Carlos A Dominguez Gonzalez,Nancy B Spinner,Rebecca C Ahrens-Nicklas,Lisa R Young,Laura A Voss, Sara L Reichert, Daniel J Gallo,Julie S Cohen,Joshua L Bonkowsky, Stephanie R Keller,Mariko L Bennett, Amy M Pizzino, Meghan Swantkowski, Kaley Arnold, Jamie L Fraser, Felicity J Emerson, Kelly Miettunen,Ali Fatemi, Keith P Van Haren,Laura Adang,Amy Waldman,Lisa Emrick,Florian Eichler,Adeline Vanderver
Genetics in medicine official journal of the American College of Medical Geneticspp.101425-101425, (2025)
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Proceedings of the 15
Khadar Abdi, Eleri Adams, Sonika Agarwal,Muktar H. Aliyu, Talal Altamimi, Nickie Andescavage,Arzu Aral, Hanifa Arfi, Eric Armour, Laura Armstrong,Sarah B. Mulkey, Jephté Bambi, Sudeepta Basu, Luke Baxter Olivia Beaulieu, Mandy Belfort, Katherine Bell, Eric Benner, Catherine Bernard, Soume Bhattacharya, Thérèse Biselele, Lynn Bitar, Witold Blaz,Hayrunnisa Bolay, Milena Bray, Lisa Bruckert, Andrea Busnelli, Paula Camila Mayorga,Melisa Carrasco, Emma Carter, Margaret Cassidy, Lina Chalak, Agnes Chao, Preeti Chauhan, Sara Cherkerzian, Liana Chernova, Rasheda Chowdhury,Helen Christou, Fabrizio Ciralli, McKenna Coletti, Angela Comanducci, Bryan Comstock, Amber Cooke, Marie-Coralie Cornet, María Corsi-Cabrera, Alessandra Coscia, Gabriel Côte-Corriveau, Ana CristanchoLourdes Cubero-Rego, María de los Angeles Cubero-Rego, Deborah Cuddyer, Rocco Cuzzilla,Mathieu Dehaes,Emma Doyle,Alexander Drobyshevsky,Sarah Dubner, Emma Gail Duerden, Aisling Dunne, Adre DuPlessis,Amelia J. Eisch,Mohamed El-Dib, Zubeyir Elmazoglu,Lisa Emrick, Adrian Epstein, Carmna Erdei,Mehmet Ali Ergun, Bogdan Fedeles, Heidi Feldman, Tina Findley, Patricia Flynn, Ethan Gadra, Marie-Michèle Gagnon, Mélanie Gagnon, Priya Ganesh,Dawn Gano, Francesca Garbarini,Michael Geary, Elisabetta Ghezzi, Katherine Gibson, Hannah Glass, Gloire Mbayabo Gloire, Fernando Gonzalez, April Gorman,Ipsita Goswami, Simon Gregory, Elif Keles Gulnerman, Thalía Harmony, Laura Harrington, Jade Harshbarger,Caroline Hartley,Masahiro Hayakawa,Breda Hayes, Patrick Heagerty, Mattew Hicks, Terrie Inder, Meghana Iragavarapu,Yuji Ito,Vaibhav Jain, Kaya J.D. Johnson, Donald Joseph, Michael Jurkiewicz, Sandra Juul, Yevgeniy Kamyshanskiy, Bhavya Kapoor, Kushal Kapse,Hasan Huseyin Kazan, Lilian Kebaya,Hiroyuki Kidokoro, Robyn Klein, Elizabeth Kling, Irina Kopobayeva, Janelle Korf, Sumire Kumai, Molly Lazarus, Djamil Lebane, Ingrid Lee, Monica Lemmon, Rachel Leon, Catherline Limperopoulos, Ethan Liu, Yu-lun Liu,Maria Livia Ognean,Thuy Mai Luu, Michelle Machie, Simon Marchant, Virginia Marchman, Eric Marsh,Miriam Martinez-Biarge, Ioana Mătăcuţă, Claudiu Matei, Charles Maxfield, Dennis Mayock, Louise McCullough, Paige Meyerink, Kendra Miller, Ryan Millman, Silvi Minga, Takamasa Mitsumatsu, Sarah Monsell,Theresa Sukal Moulton,Jonathan Murnick,Tomohiko Nakata, Hajime Narita,Jun Natsume,Emily S. Nichols, Sofia E. Nicolayevsky,Anne-Monique Nuyt, Jordan O'Brien, Betsy Ostrander, Jessica Pacheco, Lindsay Pagano, Andrea Pardo,Chiara Peila,Colleen Peyton,Roberta Pineda, Rocio Poblaciones, Karol Poles, Meagan Quigley, Shilpa Reddy, Samantha Remis, Adam Reynolds,Sandrine de Ribaupierre,Josefina Ricardo-Garcell,Blaire Rikard, Bianca Rodriguez,Irene Ronga, Paul Rosenberg, Madeline Ross, Sriya Roychaudhuri, Simone Russo,Iwona Sadowska-Krawczenko,Hamisu M. Salihu,Yoshiaki Sato, Patricia Saulino, Fumi Sawamura, Melissa Scala,Mark Scher, Erica Schindewolf, Alice Rossi Sebastiano, Jane Shanahan, Danielle Sharon, Yvonne Sheldon, Anna Shiraki,Marie-Noëlle Simard, Elizabeth Singh, Ida Sirgiovanni, Allison Smego, Tina Steele,Nina Stein, Rachel Suttin, Ryosuke Suzui, Magdalena Świder, Bruno-Paul Tady,Gentaro Taga,Selphee Tang, Ailbhe Tarrant, Tomo Tarui, Elif Gulcicek Abbasoglu Topa, Noah Trapp, Leandro Tristao, Debola Tuka, Yasminur Turdybekova,Takafumi Ushida,Fatima Usman,Charu Venkatesan, Gabriela Vişa, Jianlin Wang,Hama Watanabe, Tameka Watson, Agnieszka Witulska-Alagöz, Stephen Wood, Yvonne Wu,Hiroyuki Yamamoto, Vasily Yarnykh, Marielle Young, Noelle YoungeSanghee Yun, Pawel Zapolnik, Donya Zarrinnegar
Journal of Neonatal-Perinatal Medicineno. 3 (2024): S285-S316
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Author Statistics

#Papers: 120

#Citation: 1568

H-Index: 23

G-Index: 37

Sociability: 7

Diversity: 3

Activity: 26

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