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论文共 369 篇作者统计合作学者相似作者

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Stress and Quality of Life of Parents of Children with POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study
Laura Lentini, Helia Toutounchi,Alexandra Chapleau, Adam Le, Simon Fournier, Fatemeh Emari, Robert Flamini,Andrea Rossi, Angela Gentile,Enrico Bertini,Francesco Nicita,Daniela Pohl,Sunita Venkateswaran,Stephanie Keller,Elsa Rossignol,Deborah Renaud, Danilo De Assis Pereira,Xiaoru Chen,Adeline Vanderver,Genevieve Bernard
JOURNAL OF CHILD NEUROLOGYno. 1 (2025): 26-38
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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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POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences with the Health Care System
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani,Enrico Bertini,Francesco Nicita,Daniela Pohl,Sunita Venkateswaran, Stephanie Keller, Deborah Renaud, Dolores Gonzales Moron, Marcelo Kauffman, Danilo De Assis Pereira,Adeline Vanderver,Maxime Morsa,Geneviève Bernard
Pediatric neurology (2025): 81-87
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Experiences and Hope in Caregivers of Children with Aicardi Goutières Syndrome
Francesco Gavazzi, Ashley Martin,Anjana Sevagamoorthy, Ylenia Vaia, Ariel Vincent,Sarah Woidill, Russell D'Aiello,Sara B DeMauro,Scott A Lorch,Adeline Vanderver, Laura A Adang
Journal of child neurologypp.8830738251341530-8830738251341530, (2025)
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P483: Novel Biallelic LIG3 Mutations Causing Lethal Phenotype of Mtdna Depletion Syndrome 20: A Case Solved by Multi-Omics Research Re-Analysis
Erica Schindewolf, Gonench Kilich,Kathleen Sullivan,Rebecca Ganetzky, Kelly Hassey, Kelly Mauer, Christopher Breen, Tanaya Jadhav,Adeline Vanderver, Cara Skraban,Ramakrishnan Rajagopalan
Genetics in Medicine Open (2025): 103350
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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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Using Multiple Modalities to Confirm Diagnosis in Patients with Suspected Peroxisome Biogenesis Disorders
Anthony C T Cheung, Erminia Di Pietro,Catherine Argyriou, Eric Bareke, Yasmin D'Souza,Ratna Dua Puri, P Muhammed Shabeer,Rebecca Ganetzky,Amy Goldstein,Adeline Vanderver, Shruthi Mohan,Jacek Majewski,Christine Yergeau,Nancy Braverman
Molecular genetics and metabolismno. 1 (2025): 109080-109080
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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 Geneticsno. 7 (2025): 101425-101425
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作者统计

#Papers: 369

#Citation: 11914

H-Index: 54

G-Index: 103

Sociability: 8

Diversity: 3

Activity: 67

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