Ruizhi Duan - Dept Mol & Human Genet, Baylor Coll Med

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论文共 26 篇作者统计合作学者相似作者

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Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders

Hormos Salimi Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian, Zita Suprenant,Ay Lin Kho,Neil J Ingham,Karen P Steel,Preethi Sheshadri, Franciska Baur, Lea Hentrich,Birgit Gerisch,Mina Zamani,Cesar Alves,Ata Siddiqui,Haidar S Dafsari,Mehri Salari,Anthony Lang,Michael Harris,Alice Abdelaleem,Saeid Sadeghian, Reza Azizalamiri,Hamid Galehdari,Gholamreza Shariati,Alireza Sedaghat,Jawaher Zeighami,Daniel Calame,Dana Marafi,Ruizhi Duan, Adrian Boehnke,Carrie Mohila,Dora Steel, Saurabh Chopra,Suvasini Sharma,Nicolai Kohlschmidt,Steffi Patzer,Afshin Saffari,Darius Ebrahimi-Fakhari, Buesra Eser Cavdartepe,Irene J. Chang,Erika Beckman, Renate Peters,Andrew Paul Fennell,Bernice Lo,Luisa Averdunk,Felix Distelmaier,Martina Baethmann,Frances Elmslie, Karit Joost,Sheela Nampoothiri,Dhanya Yesodharan, Hannah Mandel,Amy Kimball,Antonie D. Kline,Cyril Mignot,Boris Keren,Vincent Laugel,Katrin Ounap,Kalpana Devadathan,Frederique M.C. van Berkestijn, Arpana Silwal,Saskia Koene,Sumit Verma,Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz,Gehad ElGhazali, Lauren Mattas,Mohammad Miryounesi,Farzad Hashemi-Gorji,Shahryar Alavi,Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi,Arveen Kamath,Sandeep Jayawant,Russell Saneto,Nourelhoda A. Haridy,Pinar Ozkan Kart,Ali Cansu,Claire Beneteau,Kyra E. Stuurman,Martina Wilke,Tahsin Stefan Barakat,Homa Tajsharghi,Annarita Scardamaglia,Sadeq Vallian,Semra Hiz,Ali Shoeibi,Reza Boostani,Narges Hashemi,Meisam Babaei,Norah Saleh Alsaleh, Julie Lander,Tania Attie-Bitach,Pauline Marzin,Dorota Wicher,Jessica I Gold,Mariana H G Monje,Dimitri Krainc,Niccolo Mencacci,Somayeh Bakhtiari,Michael C Kruer,Emanuela Argilli,Elliott Sherr,Yalda Jamshidi,Ehsan Ghayoor Karimiani,Yiu Wing Sunny Cheung,Ivan Karin,Wendy K. Chung,James R. Lupski,Manju A. Kurian,Joerg Doetsch,Juergen-Christoph von Kleist-Retzow,Thomas Klopstock,Matias Wagner,Calvin K. Yip,Andreas Roos,Carlo Dionisi-Vici,Mathias Gautel,Michael R Duchen, Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth

Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024（2024）

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Genomic Balancing Act: Deciphering DNA Rearrangements in the Complex Chromosomal Aberration Involving 5p15.2, 2q31.1 and 18Q21.32

Zain Dardas,Dana Marafi,Ruizhi Duan,Jawid M. Fatih,Omnia F. El-Rashidy,Christopher M. Grochowski,Claudia M. B. Carvalho,Shalini N. Jhangiani,Weimin Bi,Haowei Du,Richard A. Gibbs,Jennifer E. Posey,Daniel G. Calame,Maha S. Zaki,James R. Lupski

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits

Ruizhi Duan,Haowei Du,Zain Dardas,James Lupski

Genetics in Medicine Open (2024): 101540

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Hemizygous Variants in Protein Phosphatase 1 Regulatory Subunit 3F (PPP1R3F) Are Associated with a Neurodevelopmental Disorder Characterized by Developmental Delay, Intellectual Disability and Autistic Features

Zhigang Liu,Baozhong Xin,Iris N. Smith,Valerie Sency, Julia Szekely,Anna Alkelai,Alan Shuldiner,Stephanie Efthymiou,Farrah Rajabi,Stephanie Coury,Catherine A. Brownstein,Sabine Rudnik-Schoeneborn,Ange-Line Bruel,Julien Thevenon,Shimriet Zeidler,Parul Jayakar,Axel Schmidt,Kirsten Cremer,Hartmut Engels, Sophia O. Peters,Maha S. Zaki,Ruizhi Duan,Changlian Zhu,Yiran Xu,Chao Gao,Tania Sepulveda-Morales,Reza Maroofian,Issam A. Alkhawaja,Mariam Khawaja,Hunaida Alhalasah,Henry Houlden,Jill A. Madden,Valentina Turchetti,Dana Marafi,Pankaj B. Agrawal,Ulrich Schatz, Ari Rotenberg,Joshua Rotenberg,Grazia M. S. Mancini,Somayeh Bakhtiari,Michael Kruer,Isabelle Thiffault,Steffen Hirsch,Maja Hempel,Lara G. Stuehn,Tobias B. Haack,Jennifer E. Posey,James R. Lupski,Hyunpil Lee,Nicholas B. Sarn,Charis Eng,Claudia Gonzaga-Jauregui,Bin Zhang,Heng Wang

HUMAN MOLECULAR GENETICSno. 20 (2023): 2981-2995

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A De Novo Pathogenic CSF1R Variant Implicates Microglial Dysfunction in FIRES Pathogenesis

J. Levine, A. Ankar,R. Duan,J. Fatih,S. Risen, C. Trandafir,K. Fisher,J. Posey, P-C Tsai,J. Lupski,D. Calame

ANNALS OF NEUROLOGY (2023): S103-S104

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Developmental Genomics on Split-Hand/foot Malformation, Further Indication of Allelic Series and Gene Dosage Effects

Ruizhi Duan,Hadia Hijazi,Haowei Du,Jawid Fatih,Christopher Grochowski, Shalnini Jhangiani,Jennifer Posey,Zeynep Coban Akdemir,V. Reid Sutton,Claudia Carvalho,Davut Pehlivan,James Lupski

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 386-386

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Novel LSS Variants in Alopecia and Intellectual Disability Syndrome: New Case Report and Clinical Spectrum of LSS‐related Rare Disease Traits

Hasnaa M. Elbendary,Dana Marafi,Ahmed K. Saad,Rasha Elhossini,Ruizhi Duan,Karima Rafat,Shalini N. Jhangiani,Richard A. Gibbs,Davut Pehlivan,Daniel G. Calame,Jennifer E. Posey,James R. Lupski,Maha S. Zaki

CLINICAL GENETICS（2023）

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