Publications by authors named "Richard Maas"

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Low-frequency inherited complement receptor variants are associated with purpura fulminans.
Pavan K Bendapudi, Sumaiya Nazeen, Justine Ryu, Onuralp Söylemez, Alissa Robbins, Richard Maas

Blood· March 2024

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Piezo mechanosensory channels regulate centrosome integrity and mitotic entry.
Liron David, Laurel Martinez, Qiongchao Xi, Kameron A Kooshesh, Ying Zhang, Richard L Maas

Proc Natl Acad Sci U S A· January 2023

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ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Richard L Maas

EMBO Mol Med· July 2022

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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Jodie Ouahed, Judith R Kelsen, Waldo A Spessott, Kameron Kooshesh, Maria L Sanmillan, Richard L Maas

J Crohns Colitis· November 2021

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ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.
Jonathan Pini, Janina Kueper, Yiyuan David Hu, Kenta Kawasaki, Pan Yeung, Richard L Maas

EMBO Mol Med· October 2020

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FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research.
Bridget D Samuels, Robert Aho, James F Brinkley, Alejandro Bugacov, Eleanor Feingold, Richard L Maas

Development· September 2020

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Imaging Mass Spectrometry Reveals Tumor Metabolic Heterogeneity.
Yang Zhang, Christelle Guillermier, Thomas De Raedt, Andrew G Cox, Ophelia Maertens, Richard L Maas

iScience· August 2020

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A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.
Beau Sylvester, Frederick Brindopke, Akiko Suzuki, Melissa Giron, Allyn Auslander, Richard L Maas

Genes (Basel)· August 2020

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High-throughput identification of noncoding functional SNPs via type IIS enzyme restriction.
Gang Li, Marta Martínez-Bonet, Di Wu, Yu Yang, Jing Cui, Richard L Maas

Nat Genet· August 2018

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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Alireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, Christopher A Cassa, Natasha Y Frank, Richard L Maas

NPJ Genom Med· August 2018

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An Embryonic and Induced Pluripotent Stem Cell Model for Ovarian Granulosa Cell Development and Steroidogenesis.
Shane Lipskind, Jennifer S Lindsey, Behzad Gerami-Naini, Jennifer L Eaton, Daniel O'Connell, Richard Maas

Reprod Sci· May 2018

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Liu et al. reply.
Yizhi Liu, David Granet, Haotian Lin, Sally Baxter, Hong Ouyang, Richard L Maas

Nature· April 2018

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Bio-inspired solute enables preservation of human oocytes using minimum volume vitrification.
Jung Kyu Choi, Rami El Assal, Nicholas Ng, Elizabeth Ginsburg, Richard L Maas

J Tissue Eng Regen Med· January 2018

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Resolving stem and progenitor cells in the adult mouse incisor through gene co-expression analysis.
Kerstin Seidel, Pauline Marangoni, Cynthia Tang, Bahar Houshmand, Wen Du, Richard L Maas

Elife· May 2017

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Corrigendum: Lens regeneration using endogenous stem cells with gain of visual function.
Haotian Lin, Hong Ouyang, Jie Zhu, Shan Huang, Zhenzhen Liu, Richard L Maas

Nature· January 2017

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Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease.
Hila Milo Rasouly, Sudhir Kumar, Stefanie Chan, Anna Pisarek-Horowitz, Richa Sharma, Richard L Maas

Kidney Int· December 2016

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The FaceBase Consortium: a comprehensive resource for craniofacial researchers.
James F Brinkley, Shannon Fisher, Matthew P Harris, Greg Holmes, Joan E Hooper, Richard L Maas

Development· July 2016

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Microfabrication of Cell-Laden Hydrogels for Engineering Mineralized and Load Bearing Tissues.
Chia-Cheng Li, Mahshid Kharaziha, Christine Min, Richard Maas, Mehdi Nikkhah

Adv Exp Med Biol· April 2016

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Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.
Kusumika Mukherjee, Kana Ishii, Vamsee Pillalamarri, Tammy Kammin, Joan F Atkin, Richard L Maas

Hum Mol Genet· April 2016

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An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.
Christopher A Cassa, Stacy E Smith, William Docken, Erin Hoffman, Heather McLaughlin, Richard L Maas

Rheumatology (Oxford)· March 2016

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Lens regeneration using endogenous stem cells with gain of visual function.
Haotian Lin, Hong Ouyang, Jie Zhu, Shan Huang, Zhenzhen Liu, Richard L Maas

Nature· March 2016

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An integrated miRNA functional screening and target validation method for organ morphogenesis.
Ivan T Rebustini, Maryann Vlahos, Trevor Packer, Maria A Kukuruzinska, Richard L Maas

Sci Rep· March 2016

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Crim1 regulates integrin signaling in murine lens development.
Ying Zhang, Jieqing Fan, Joshua W K Ho, Tommy Hu, Stephen C Kneeland, Richard L Maas

Development· January 2016

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Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Maha Faden, Fatema AlZahrani, Roberto Mendoza-Londono, Lucie Dupuis, Taila Hartley, Richard L Maas

Am J Hum Genet· October 2015

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Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.
Sameer S Chopra, Ignaty Leshchiner, Hatice Duzkale, Heather McLaughlin, Monica Giovanni, Richard Maas

Mol Genet Genomic Med· September 2015

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