Lindsay Rhodes

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Authors:

Alison M Muir Jennifer F Gardner Richard H van Jaarsveld Iris M de Lange Jasper J van der Smagt Golder N Wilson Holly Dubbs Ethan M Goldberg Lia Zitano Caleb Bupp Jose Martinez Myriam Srour Andrea Accogli Afnan Alhakeem Meira Meltzer Andrea Gropman Carole Brewer Richard C Caswell Tara Montgomery Caoimhe McKenna Shane McKee Corinna Powell Pradeep C Vasudevan Angela F Brady Shelagh Joss Carolyn Tysoe Grace Noh Mark Tarnopolsky Lauren Brady Muhammad Zafar Samantha A Schrier Vergano Brianna Murray Lindsey Sawyer Bryan E Hainline Katherine Sapp Danielle DeMarzo Darcy J Huismann Ingrid M Wentzensen Rhonda E Schnur Kristin G Monaghan Jane Juusola Lindsay Rhodes William B Dobyns Francois Lecoquierre Alice Goldenberg Tilman Polster Susanne Axer-Schaefer Konrad Platzer Chiara Klöckner Trevor L Hoffman Daniel G MacArthur Melanie C O'Leary Grace E VanNoy Eleina England Vinod C Varghese Heather C Mefford

Genet Med 2021 Jan 20. Epub 2021 Jan 20.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.

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January 2021

Comparison of extraocular and intraocular pressure transducers for measurement of transient intraocular pressure fluctuations using continuous wireless telemetry.

Authors:

Jessica V Jasien Ye Emma Zohner Sonia Kuhn Asif Lindsay A Rhodes Brian C Samuels Christopher A Girkin Jeffrey S Morris J Crawford Downs

Sci Rep 2020 12 1;10(1):20893. Epub 2020 Dec 1.

Department of Ophthalmology and Visual Sciences, School of Medicine, University of Alabama at Birmingham, VH 390B | 1670 University Blvd., Birmingham, AL, 35294, USA.

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December 2020

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Authors:

Hui Guo Qiumeng Zhang Rujia Dai Bin Yu Kendra Hoekzema Jieqiong Tan Senwei Tan Xiangbin Jia Wendy K Chung Rebecca Hernan Fowzan S Alkuraya Ahood Alsulaiman Mohammad A Al-Muhaizea Gaetan Lesca Linda Pons Audrey Labalme Linda Laux Emily Bryant Natasha J Brown Elena Savva Samantha Ayres Dhamidhu Eratne Hilde Peeters Frédéric Bilan Lucile Letienne-Cejudo Brigitte Gilbert-Dussardier Inge-Lore Ruiz-Arana Jenny Meylan Merlini Alexia Boizot Lucia Bartoloni Federico Santoni Danielle Karlowicz Marie McDonald Huidan Wu Zhengmao Hu Guodong Chen Jianjun Ou Charlotte Brasch-Andersen Christina R Fagerberg Inken Dreyer Anne Chun-Hui Tsai Valerie Slegesky Rose B McGee Brina Daniels Elizabeth A Sellars Lori A Carpenter Bradley Schaefer Maria J Guillen Sacoto Amber Begtrup Rhonda E Schnur Sumit Punj Ingrid M Wentzensen Lindsay Rhodes Qian Pan Raphael A Bernier Chao Chen Evan E Eichler Kun Xia

Am J Hum Genet 2020 11;107(5):963-976

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China. Electronic address:

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November 2020

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Clin Genet 2021 Feb 23;99(2):259-268. Epub 2020 Nov 23.

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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February 2021

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Authors:

Bobby G Ng Erik A Eklund Sergey A Shiryaev Yin Y Dong Mary-Alice Abbott Carla Asteggiano Michael J Bamshad Eileen Barr Jonathan A Bernstein Shabeed Chelakkadan John Christodoulou Wendy K Chung Michael A Ciliberto Janice Cousin Fiona Gardiner Suman Ghosh William D Graf Stephanie Grunewald Katherine Hammond Natalie S Hauser George E Hoganson Kimberly M Houck Jennefer N Kohler Eva Morava Austin A Larson Pengfei Liu Sujana Madathil Colleen McCormack Naomi J L Meeks Rebecca Miller Kristin G Monaghan Deborah A Nickerson Timothy Blake Palculict Gabriela Magali Papazoglu Beth A Pletcher Ingrid E Scheffer Andrea Beatriz Schenone Rhonda E Schnur Yue Si Leah J Rowe Alvaro H Serrano Russi Rossana Sanchez Russo Farouq Thabet Allysa Tuite María Mercedes Villanueva Raymond Y Wang Richard I Webster Dorcas Wilson Alice Zalan Lynne A Wolfe Jill A Rosenfeld Lindsay Rhodes Hudson H Freeze

J Inherit Metab Dis 2020 Nov 5;43(6):1333-1348. Epub 2020 Aug 5.

Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.

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November 2020

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

Authors:

Kumarie Latchman Madison Calder Dayna Morel Lindsay Rhodes Jane Juusola Mustafa Tekin

Am J Med Genet A 2020 03 12;182(3):548-552. Epub 2019 Dec 12.

Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of Medicine, University of Miami, Coral Gables, Florida.

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March 2020

Glaucoma Patient Knowledge, Perceptions, and Predispositions for Telemedicine.

Authors:

Lindsay A Rhodes Carrie E Huisingh Gerald McGwin Christopher A Girkin Cynthia Owsley

J Glaucoma 2019 06;28(6):481-486

Departments of Ophthalmology and Visual Sciences, School of Medicine.

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June 2019

Compliance With Primary Open-angle Glaucoma and Primary Open-angle Glaucoma Suspect Preferred Practice Patterns in a Retail-based Eye Clinic.

Authors:

Jordan Stanley Carrie E Huisingh Thomas A Swain Gerald McGwin Cynthia Owsley Christopher A Girkin Lindsay A Rhodes

J Glaucoma 2018 12;27(12):1068-1072

Department of Ophthalmology and Visual Sciences, School of Medicine.

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December 2018

Patient satisfaction with care in an urban tertiary referral academic glaucoma clinic in the US.

Authors:

Kristen M Peterson Carrie E Huisingh Christopher Girkin Cynthia Owsley Lindsay A Rhodes

Patient Prefer Adherence 2018 9;12:775-781. Epub 2018 May 9.

Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.

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May 2018

Reaching the Unreachable: Novel Approaches to Telemedicine Screening of Underserved Populations for Vitreoretinal Disease.

Authors:

Ann P Murchison Julia A Haller Eileen Mayro Lisa Hark Emily Gower Carrie Huisingh Lindsay Rhodes David S Friedman David J Lee Byron L Lam

Curr Eye Res 2017 07 16;42(7):963-970. Epub 2017 May 16.

f Departments of Public Health Sciences and Ophthalmology , Miller School of Medicine, University of Miami , Miami , FL , USA.

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July 2017

Measuring Mean Cup Depth in the Optic Nerve Head.

Authors:

John K Johnstone Lindsay Rhodes Massimo Fazio Brandon Smith Lan Wang J Crawford Downs Cynthia Owsley Christopher A Girkin

Comput Aided Des Appl 2016 1;13(5):693-700. Epub 2016 Mar 1.

Department of Ophthalmology, UAB.

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March 2016

Comparison of Bruch's Membrane Opening Minimum Rim Width Among Those With Normal Ocular Health by Race.

Authors:

Lindsay A Rhodes Carrie E Huisingh Adam E Quinn Gerald McGwin Frank LaRussa Daniel Box Cynthia Owsley Christopher A Girkin

Am J Ophthalmol 2017 Feb 5;174:113-118. Epub 2016 Nov 5.

Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama.

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February 2017

Eye Care Quality and Accessibility Improvement in the Community (EQUALITY): impact of an eye health education program on patient knowledge about glaucoma and attitudes about eye care.

Authors:

Lindsay A Rhodes Carrie E Huisingh Gerald McGwin Stephen T Mennemeyer Mary Bregantini Nita Patel Jinan Saaddine John E Crews Christopher A Girkin Cynthia Owsley

Patient Relat Outcome Meas 2016 19;7:37-48. Epub 2016 May 19.

Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.

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June 2016

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

Authors:

Sarah M Nielsen Lindsay Rhodes Ignacio Blanco Wendy K Chung Charis Eng Eamonn R Maher Stéphane Richard Rachel H Giles

J Clin Oncol 2016 06 25;34(18):2172-81. Epub 2016 Apr 25.

Sarah M. Nielsen and Lindsay Rhodes, The University of Chicago, Chicago, IL; Ignacio Blanco, Hospital Universitari Germans Trias i Pujol, UAB - Universitat Autònoma de Barcelona, Barcelona, Spain; Wendy K. Chung, Columbia University, New York, NY; Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University School of Medicine, Cleveland, OH; Eamonn R. Maher, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, United Kingdom; Stéphane Richard, Réseau National pour Cancers Rares de l'Adulte PREDIR, INCa/AP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre; Stéphane Richard, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; Rachel H. Giles, University Medical Center Utrecht, Regenerative Medicine Center Utrecht, Utrecht; and Rachel H. Giles, Dutch VHL Patient Organization, Gouda, the Netherlands.

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June 2016

Eye Care Quality and Accessibility Improvement in the Community (EQUALITY) for adults at risk for glaucoma: study rationale and design.

Authors:

Cynthia Owsley Lindsay A Rhodes Gerald McGwin Stephen T Mennemeyer Mary Bregantini Nita Patel Demond M Wiley Frank LaRussa Dan Box Jinan Saaddine John E Crews Christopher A Girkin

Int J Equity Health 2015 Nov 18;14:135. Epub 2015 Nov 18.

Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, 700 S. 18th St, Birmingham, AL, 35294-0009, USA.

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November 2015

A Review of Fanconi Anemia for the Practicing Pediatrician.

Authors:

Justin Triemstra An Pham Lindsay Rhodes Darrel J Waggoner Kenan Onel

Pediatr Ann 2015 Oct;44(10):444-5, 448, 450 passim

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October 2015

Association between Glaucoma and At-fault Motor Vehicle Collision Involvement among Older Drivers: A Population-based Study.

Authors:

MiYoung Kwon Carrie Huisingh Lindsay A Rhodes Gerald McGwin Joanne M Wood Cynthia Owsley

Ophthalmology 2016 Jan 14;123(1):109-16. Epub 2015 Oct 14.

Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama.

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January 2016

Establishing a translational genomics infrastructure in pediatric cancer: the GREAT KIDS experience.

Authors:

Navin Pinto Samuel L Volchenboum Andrew D Skol Lindsay Rhodes Andrew Doan Carolyn Fein-Levy Jeffrey M Lipton John M Cunningham Kenan Onel

Per Med 2015 Jun;12(3):221-229

Department of Pediatrics, The University of Chicago, 5801 S Ellis Ave, Chicago, IL 60637, USA.

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June 2015

Integrated genomic analysis suggests MLL3 is a novel candidate susceptibility gene for familial nasopharyngeal carcinoma.

Authors:

Mark M Sasaki Andrew D Skol Riyue Bao Lindsay V Rhodes Rachelle Chambers Everett E Vokes Ezra E W Cohen Kenan Onel

Cancer Epidemiol Biomarkers Prev 2015 Aug 26;24(8):1222-8. Epub 2015 May 26.

Department of Pediatrics, The University of Chicago, Chicago, Illinois. The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, Illinois.

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August 2015