H
Holly H. Zimmerman
Researcher at University of Mississippi Medical Center
Publications - 11
Citations - 479
Holly H. Zimmerman is an academic researcher from University of Mississippi Medical Center. The author has contributed to research in topics: Copy-number variation & Hypotonia. The author has an hindex of 9, co-authored 11 publications receiving 387 citations. Previous affiliations of Holly H. Zimmerman include University of Mississippi.
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Journal ArticleDOI
Mutations in SLC25A46 , encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Alexander J. Abrams,Robert B. Hufnagel,Adriana P. Rebelo,Claudia Zanna,Neville Patel,Michael A. Gonzalez,Ion J. Campeanu,Laurie B. Griffin,Saskia Groenewald,Alleene V. Strickland,Feifei Tao,Fiorella Speziani,Lisa Abreu,Rebecca Schüle,Leonardo Caporali,Chiara La Morgia,Alessandra Maresca,Rocco Liguori,Raffaele Lodi,Zubair M. Ahmed,Kristen L. Sund,Xinjian Wang,Laura Krueger,Yanyan Peng,Carlos E. Prada,Cynthia A. Prows,Elizabeth K. Schorry,Anthony Antonellis,Holly H. Zimmerman,Omar A. Abdul-Rahman,Yaping Yang,Susan M. Downes,Jeffery Prince,Flavia Fontanesi,Antonio Barrientos,Andrea H. Németh,Valerio Carelli,Taosheng Huang,Stephan Züchner,Julia E. Dallman +39 more
TL;DR: It is demonstrated that SLC25A46, like Ugo1, is a modified carrier protein that has been recruited to the outer mitochondrial membrane and interacts with the inner membrane remodeling protein mitofilin (Fcj1).
Journal ArticleDOI
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
Christopher W. Carr,Daniel Moreno-De-Luca,Colette C. Parker,Holly H. Zimmerman,Nikki Ledbetter,Christa Lese Martin,William B. Dobyns,Omar A. Abdul-Rahman +7 more
TL;DR: A patient with a single deletion of FOXP1 presented with speech and motor developmental delays, a Chiari I malformation, and epileptiform discharges, and the nature of the speech deficit is different from the primary oromotor verbal dyspraxia found in patients with FOXP2 deficiency.
Journal ArticleDOI
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Jean Chemin,Karine Siquier-Pernet,Karine Siquier-Pernet,Michael Nicouleau,Michael Nicouleau,Giulia Barcia,Giulia Barcia,Ali Ahmad,Daniel Medina-Cano,Daniel Medina-Cano,Sylvain Hanein,Nami Altin,Nami Altin,Laurence Hubert,Christine Bole-Feysot,Cécile Fourage,Patrick Nitschke,Julien Thevenon,Marlène Rio,Pierre Blanc,Céline Vidal,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Isabelle Desguerre,Arnold Munnich,Stanislas Lyonnet,Stanislas Lyonnet,Nathalie Boddaert,Nathalie Boddaert,Emily Fassi,Marwan Shinawi,Holly H. Zimmerman,Jeanne Amiel,Jeanne Amiel,Laurence Faivre,Laurence Colleaux,Laurence Colleaux,Philippe Lory,Vincent Cantagrel,Vincent Cantagrel +39 more
TL;DR: This study highlights the prevalence of de novo mutations in early-onset cerebellar atrophy and demonstrates that A961T and M1531V are gain of function mutations, which reveals that aberrant activity of Cav3.1 channels can markedly alter brain development and suggests that this condition could be amenable to treatment.
Journal ArticleDOI
Whole-genome copy number variation analysis in anophthalmia and microphthalmia
Kala F. Schilter,Linda M. Reis,Adele Schneider,Tanya Bardakjian,Omar A. Abdul-Rahman,Beth A. Kozel,Holly H. Zimmerman,Ulrich Broeckel,Elena V. Semina,Elena V. Semina +9 more
TL;DR: Overall, this study identified causative copy number mutations and regions with a possible role in ocular disease in 17% of A/M cases.
Journal ArticleDOI
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
Mohammad K. Eldomery,Zeynep Coban Akdemir,F.-Nora Vögtle,Wu Lin Charng,Patrycja Mulica,Jill A. Rosenfeld,Tomasz Gambin,Shen Gu,Lindsay C. Burrage,Lindsay C. Burrage,Aisha Al Shamsi,Samantha Penney,Shalini N. Jhangiani,Holly H. Zimmerman,Donna M. Muzny,Xia Wang,Jia Tang,Ravi Medikonda,Prasanna V. Ramachandran,Lee-Jun C. Wong,Eric Boerwinkle,Eric Boerwinkle,Richard A. Gibbs,Christine M. Eng,Seema R. Lalani,Seema R. Lalani,Jozef Hertecant,Richard J. Rodenburg,Omar A. Abdul-Rahman,Yaping Yang,Fan Xia,Meng C. Wang,James R. Lupski,Chris Meisinger,V. Reid Sutton,V. Reid Sutton +35 more
TL;DR: These findings reveal for the first time the role of the mitochondrial intermediate peptidase in human disease and highlight the power of data exchange and the importance of an interrelationship between clinical and research efforts for disease gene discovery.