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Papers共 263 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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期刊级别
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Multiple Molecular Diagnoses Identified Through Genome Sequencing in Individuals with Suspected Rare Disease
Alka Malhotra,Erin Thorpe,Alison J Coffey, Revathi Rajkumar, Josephine Adjeman, Naomi Dianne Naa Adjeley Adjetey, Sharron Aglobitse, Felix Allotey,Todor Arsov, Joyce Ashong, Ebenezer Vincent Badoe,Donald Basel, Yvonne Brew, Chester Brown, Kerri Bosfield, Kari Casas,Mario Cornejo-Olivas,Laura Davis-Keppen, Abbey Freed,Kate Gibson, Parul Jayakar,Marilyn C Jones, Martina Kawome,Aimé Lumaka, Ursula Maier, Prince Makay, Gioconda Manassero, Marilyn Marbell-Wilson, Charles Marcuccilli,Diane Masser-Frye,Julie McCarrier, Hannah-Sharon Mills, Jeny Balazar Montoya,Gerrye Mubungu, Mamy Ngole,Jorge Perez,Eniko Pivnick,Milagros M Duenas-Roque, Hildegard Pena Salguero, Arturo Serize,Marwan Shinawi,Fabio Sirchia, Claudia Soler-Alfonso,Alan Taylor, Lauren Thompson, Gail Vance,Adeline Vanderver, Keith Vaux, Danita Velasco, Samuel Wiafe, Illumina Laboratory Services Interpretation and Reporting Team,Ryan J Taft, Denise L Perry,Akanchha Kesari
HGG advancesno. 3 (2025): 100430-100430
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P309: Precision Medicine in Action: Implementation and Utility of Pharmacogenomic Testing in a Clinical Setting
Hunter Slosser, Rebecca Brand, Leia Peterman-Prather,Patricia Dickson,Julie Neidich,Marwan Shinawi
Genetics in Medicine Open (2025): 102274
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Treatment and Improved Outcomes of Three Adult Patients with Guanidinoacetate Methyltransferase (GAMT) Deficiency
Angela Lee, Judith Weisenberg, Elizabeth Toolan,Marwan Shinawi
JIMD reportsno. 3 (2025): e70019-e70019
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Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype
Parith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, Lance W Peterson,Mai He,Robert C McKinstry,Anthony Antonellis,Marwan Shinawi
JIMD reportsno. 3 (2025): e70020-e70020
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P161: Impact and Evolution of a Philanthropic Global Network Providing Clinical Genomic Testing*
Erin Venti, Diane Masser-Frye,Miguel Del Campo, Marilyn Jones,Mario Cornejo-Olivas, Alid Manrique Palomino, Milagros Duenas-Roque, Gioconda Manassero-Morales, Jeny Bazalar-Montoya,Richard Rodriguez, Hildegard Peña Salguero, Mitzy Cervantes,Aime Lumaka,Gerrye Mubungu, Prince Makay, Mamy Ngole, Prosper Tshilobo Lukusa, Samuel Wiafe, Trudy Nyakambangwe, Patience Kuona, Gwen Kandawasvika, Nothando Napata,Adeline Vanderver,Omar Sherbini,Amy Pizzino,Donald Basel,Julie McCarrier,Marwan Shinawi, Nora Urraca, Chester Brown,Fabio Sirchia,Elisa Giorgio,Alan Taylor, Shruti Shenbagam,Ahmad Abou Tayoun, Erin Royer, Lindsey Schmidt,Denise Perry,Akanchha Kesari,Christian Marshall, Anna Pan,Kym Boycott, Meredith Gillespie,Caitlin Chisholm,Vaidehi Jobanputra,Ashley Wilson, Lena Fielding,David Schlesinger, Fernando Kok, Sharon Terry,Ryan Taft
Genetics in Medicine Open (2025): 102126
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P412: an Atypical Case of Pseudohypoparathyroidism 1b Due to Uniparental Hetero- and Isodisomy Detected by Genome Sequencing
Joshua Lowry, Zinayida Schlachetzki, Brendan Burns, Ajay Varadarajan, Brittany Thomas, Richard Wang, Evgenii Chekalin, Jon Albay,Marwan Shinawi, Dorothy Grange,Ryan Taft,Denise Perry,Akanchha Kesari
Genetics in Medicine Open (2025): 103279
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P430: RAD51-related Fanconi Anemia is Commonly Associated with VACTERL: Expanding the Phenotypic Spectrum with a Fifth Reported Case
Burak Altintas, Andrea Stacy, Katie Gettinger, David Wilson,Marwan Shinawi
Genetics in Medicine Open (2025): 103297
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Atypical Free Sialic Acid Storage Disorder Associated with Tissue Specific Mosaicism of SLC17A5
Marwan Shinawi,Daniel J. Wegner, Alexander J. Paul, William Buchser, Robert Schmidt,Jaiprakash Sharma,Marco Sardiello,Kathleen Sisco,Linda Manwaring,Margaret Reynolds,Robert Fulton,Catrina Fronick, Andrew Shaver, Tina Y. Huang, Ashley Carroll, Kyria Roessler,Aaron L. Halpern,Patricia I. Dickson,Jennifer A. Wambach
Molecular genetics and metabolismno. 1 (2024): 109004-109004
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Author Statistics

#Papers: 263

#Citation: 10427

H-Index: 48

G-Index: 98

Sociability: 8

Diversity: 4

Activity: 50

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