Xi Luo - Baylor College of Medicine | 人才画像

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论文共 23 篇作者统计合作学者相似作者

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Effective Algorithm to Differentiate NBS MCADD Cases from False Positives and an Assessment of the Utility of the Second Newborn Screen for MCADD

Matthew Snyder,Kristian Divin,Ning Liu, Qin Sun,Yue Wang,Xi Luo,Lindsay Burrage,V. Reid Sutton

Molecular Genetics and Metabolism（2024）

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P730: Development of Comprehensive Gene-/Disease-specific Analysis and Knowledgebase to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting

Dandan He, Yingjun Jiang, Yuandong Peng, Yaran Wen,Jun Yang,Ying Zhou,John Lattier,Linyan Meng,Xi Luo

Genetics in Medicine Open (2024): 101634

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Burden of Digestive Congenital Anomalies among Children Aged 0-14 Years in 204 Countries and Territories, 1990-2021: Results from the Global Burden of Disease Study 2021

Xi Luo, Jie Luo,Jinhua Zhao, Jun Du,Deqin Lu,Huajian Gu

BMJ OPENno. 12 (2024)

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103. Defining the Pleiotropic GATA2 Deficiency Phenotype for the Development of ACMG-AMP GATA2 Variant Curation Rules

Taylor Walker,Shruthi Mohan,Eran Tallis,Sioban Keel,Marcin Wlodarski,Amy Hsu,Katherine Calvo,Simone Feurstein,Panagiotis Baliakas,Xi Luo,Guimin Gao,David Wu,Lucy Godley

Cancer Genetics (2023): 31-32

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O11: Defining the Pleiotropic GATA2 Deficiency Phenotype for the Development of ACMG-AMP Variant Curation Rules for GATA2*

Shruthi Mohan,Eran Tallis,Taylor Walker,Sioban Keel,Marcin Wlodarski,Amy Hsu,Katherine Calvo,Simone Feurstein,Panagiotis Baliakas,Xi Luo,Guimin Gao,David Wu,Lucy Godley

Genetics in Medicine Openno. 1 (2023): 100055-100055

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P284: Compound Heterozygosity for Loss-of-function Variants in GDF1 Provides a Molecular Diagnosis in a Patient with Heterotaxy Syndrome

Vittoria Rossi,Xi Luo,Kristin Cardiel Nunez,Ruiyang Yi,Elizabeth Mizerik,Lauren Westerfield,Seema Lalani,Mir Reza Bekheirnia

Genetics in Medicine Openno. 1 (2023): 100312-100312

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Revision of RUNX1 Variant Curation Rules

Simone Feurstein,Xi Luo,Mancy Shah,Taylor Walker,Nikita Mehta,David Wu,Lucy A. Godley

Blood Advances（2022）

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Drosophila Functional Screening of De Novo Variants in Autism Uncovers Damaging Variants and Facilitates Discovery of Rare Neurodevelopmental Diseases

Paul C. Marcogliese,Samantha L. Deal,Jonathan Andrews,J. Michael Harnish,V. Hemanjani Bhavana,Hillary K. Graves,Sharayu Jangam,Xi Luo,Ning Liu,Danqing Bei,Yu-Hsin Chao,Brooke Hull,Pei-Tseng Lee,Hongling Pan,Pradnya Bhadane,Mei-Chu Huang,Colleen M. Longley,Hsiao-Tuan Chao,Hyung-lok Chung,Nele A. Haelterman,Oguz Kanca,Sathiya N. Manivannan,Linda Z. Rossetti,Ryan J. German,Amanda Gerard,Eva Maria Christina Schwaibold,Sarah Fehr,Renzo Guerrini,Annalisa Vetro,Eleina England,Chaya N. Murali,Tahsin Stefan Barakat,Marieke F. van Dooren,Martina Wilke,Marjon van Slegtenhorst,Gaetan Lesca,Isabelle Sabatier,Nicolas Chatron,Catherine A. Brownstein,Jill A. Madden,Pankaj B. Agrawal,Boris Keren,Thomas Courtin,Laurence Perrin,Melanie Brugger,Timo Roser,Steffen Leiz,Frederic Tran Mau-Them,Julian Delanne,Elena Sukarova-Angelovska,Slavica Trajkova,Erik Rosenhahn,Vincent Strehlow,Konrad Platzer,Roberto Keller,Lisa Pavinato,Alfredo Brusco,Jill A. Rosenfeld,Ronit Marom,Michael F. Wangler,Shinya Yamamoto

Cell Reportsno. 11 (2022): 110517-110517

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