Publications by authors named "Joseph Peeden"

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Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Xiaoxia Peng, Xiangbin Jia, Hanying Wang, Jingjing Chen, Xiaolei Zhang, Joseph Peeden

J Clin Invest· November 2025

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Streptococcal Mediastinitis Following Placement of a Bravo Capsule.
Joseph Peeden, Anna Conner, Dante Pappano

Clin Pediatr (Phila)· June 2025

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Serena Galosi, Ban H Edani, Simone Martinelli, Hana Hansikova, Erik A Eklund, Joseph Peeden

Brain· March 2022

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Ingo Helbig, Tania Lopez-Hernandez, Oded Shor, Peter Galer, Shiva Ganesan, Joseph Peeden

Am J Hum Genet· June 2019

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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
Iram Hussain, Nivedita Patni, Masako Ueda, Ekaterina Sorkina, Cynthia M Valerio, Joseph Peeden

J Clin Endocrinol Metab· March 2018

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Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Pascal Brouillard, Laura Dupont, Raphael Helaers, Richard Coulie, George E Tiller, Joseph Peeden

Hum Mol Genet· November 2017

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The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.
Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden

Front Endocrinol (Lausanne)· May 2017

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Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
Areeg H El-Gharbawy, Joseph N Peeden, Ralph S Lachman, John M Graham, Stephen R Moore

Am J Med Genet A· January 2010

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