Rebecca O. Littlejohn - Dept Pediat, Baylor Coll Med

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论文共 28 篇作者统计合作学者相似作者

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree,Kelly J Clark, Emily L Durham, Elizabeth M Gonzalez, Sarina Smith,Rajesh Angireddy, Xiao Min Wang, Erin Weiss,Roberto Mendoza-Londono,Lucie Dupuis,

European journal of human genetics : EJHGpp.1-10, (2024)

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P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases

Blake Vuocolo, Ryan German,Carlos Bacino,Chaya Murali,Seema Lalani, Stephanie Baskin,Elizabeth Roeder, Carrie Schmid,Scott McLean,Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben,

Genetics in Medicine Open (2024): 101394

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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

Margaux Serey-Gaut,Marisol Cortes,Periklis Makrythanasis,Mohnish Suri,Alexander M R Taylor,Jennifer A Sullivan, Ayat N Asleh,Jaba Mitra,Mohamad A Dar, Amy McNamara,Vandana Shashi, Sarah Dugan,

Am J Hum Genet（2023）

引用2浏览0WOS引用

Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas

Haley Streff,Crescenda L. Uhles, Heather Fisher,Rachel Franciskovich,Rebecca O. Littlejohn,Amanda Gerard,Julianna Hudnall,Hadley Stevens Smith

Genet Med（2023）

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Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

Cara P Ford,Rebecca O Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves,Liesbeth Vossaert,Nichole Owen,Michael Wangler, Carrie A Schmid, The Texome Project

Molecular genetics & genomic medicineno. 12 (2023): e2272-e2272

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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Weimin Bi,Bo Yuan,Pengfei Liu,Jaclyn B Murry,Xiang Qin,Fan Xia, Thao Quach,Lance M Cooper,Joanna Wiszniewska,Patricia Hixson,Sandra Peacock,Vijay S Tonk,

J Med Genet（2022）

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Pathogenic Mast3 Variants In The Stk Domain Are Associated With Epilepsy

Egidio Spinelli,Kyle R Christensen,Emily Bryant,Amy Schneider, M GenCouns,Jennifer Rakotomamonjy,Alison M Muir,Jessica Giannelli,Rebecca O Littlejohn,Elizabeth R Roeder, Berkley Schmidt,William G Wilson,

ANNALS OF NEUROLOGY（2021）

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Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes

Veronica Ortega,Raymond J. Louie,Melanie A. Jones,Alka Chaubey,Barbara R. DuPont,Allison Britt,Joseph Ray,Scott D. McLean,Rebecca O. Littlejohn,Gopalrao Velagaleti

MOLECULAR CYTOGENETICS（2021）

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Germline findings based on patient phenotype of the Texas KidsCanSeq cohort: an interim analysis

Lauren Desrosiers,Sarah Scollon,Rebecca Littlejohn,Kimberly Nugent,Rebecca Althaus,Jessica Corredor,Emily Berenson,Rachel Wyatt,Timothy Griffin,Kelly Vallance,Jonathan Gill,Gail Tomlinson,

Molecular Genetics and Metabolism（2021）

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Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Egidio Spinelli,Kyle R Christensen,Emily Bryant,Amy Schneider,Jennifer Rakotomamonjy,Alison M Muir, Jessica Giannelli,Rebecca O Littlejohn,Elizabeth R Roeder, Berkley Schmidt,William G Wilson,Elysa J Marco,

bioRxiv (Cold Spring Harbor Laboratory)（2021）

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