A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A. Aldinger, David B. Everman et autres
1 citationThe American Journal of Human Genetics
Donna M. Martin
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173Publications signalées
10432Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Congenital Ear and Nasal AnomaliesTracheal and airway disordersCongenital heart defects researchEar Surgery and Otitis MediaGenomic variations and chromosomal abnormalities
Publications récentes
A novel cardiomyopathy phenotype linked to a CHD7 missense variant
In Young Park, Chih‐Wei Hsu, Karim Bouazoune, Christina E Espindola et autres
3 citationsScientific Reports
Where to start? The Irish Emergency Department Antimicrobial Discharge (EDAD) study: a multicentre, prospective cohort analysis
Aisling Rafferty, Alida Fe Talento, Richard J. Drew, Patrick Fitzpatrick et autres
1 citationJAC-Antimicrobial Resistance
CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development
Jingxia Gao, Jennifer Skidmore, Jelka Cimerman, Kristina Ritter et autres
15 citationsProceedings of the National Academy of Sciences
A road map for the treatment of pediatric diffuse midline glioma
Carl Koschmann, Wajd N. Al‐Holou, Marta M. Alonso, Jamie N. Anastas et autres
25 citationsCancer Cell
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Isabelle Roux, Cristina Fenollar‐Ferrer, Hyun Jae Lee, Parna Chattaraj et autres
13 citationsHuman Genetics
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
Elizabeth A. Werren, Alba Guxholli, Natasha Jones, Matias Wagner et autres
8 citationsHuman Genetics and Genomics Advances
Practical considerations for reinterpretation of individual genetic variants
Paul S. Appelbaum, Sara M. Berger, Elly Brokamp, H. Shelton Brown et autres
25 citationsGenetics in Medicine
Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length
Laura A. Krueger, Jessica D. Bills, Zun Yi Lim, Jennifer Skidmore et autres
7 citationsExperimental Eye Research
Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion
Kristina Ritter, Sloane M. Lynch, Ashley M. Gorris, Lisa A. Beyer et autres
5 citationsHearing Research
Regulation of cellular LDL uptake by PROX1 and CHD7
Candilianne Serrano-Zayas, Matthew L. Holding, Taslima Khan, Vi T. Tang et autres
1 citationbioRxiv (Cold Spring Harbor Laboratory)
GIGYF1 disruption associates with autism and impaired IGF-1R signaling
Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan et autres
33 citationsJournal of Clinical Investigation
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