Publications by authors named "Kristin Herman"

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Heterozygous de novo variants in cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
Marina Eskin-Schwartz, Shaikah Seraidy, Eyal Paz, Maism Molhem, Emmanuelle Ranza, Kristin Herman

J Med Genet· December 2024

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Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Thomas B Smith, Alessandro Rea, Huw B Thomas, Kyle Thompson, Monika Oláhová, Kristin C Herman

Eur J Hum Genet· October 2023

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Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in .
Alison M R Castle, Smrithi Salian, Haim Bassan, Efrat Sofrin-Drucker, Raffaella Cusmai, Kristin C Herman

Neurol Genet· December 2021

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D-DEMØ, a distinct phenotype caused by mutations.
Lyndsey Prange, Milton Pratt, Kristin Herman, Raphael Schiffmann, David M Mueller

Neurol Genet· October 2020

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Kristin Herman

Nat Commun· October 2019

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Kristin C Herman

Am J Hum Genet· May 2019

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Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
Reymundo Lozano, Kristin Herman, Melanie Rothfuss, Hillary Rieger, Pinar Bayrak-Toydemir

Am J Med Genet A· December 2016

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Effects of a Mutation in the Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder.
Anne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, Shahar Nisemblat, Dita Pelnena, Kristin Herman

Front Mol Biosci· October 2016

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Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Andrey Shuvarikov, Ian M Campbell, Piotr Dittwald, Nicholas J Neill, Martin G Bialer, Kristin Herman

Hum Mutat· October 2013

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Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, Anjana Pettigrew, Seema R Lalani, Kristin Herman

Eur J Hum Genet· February 2012

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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
Sébastien Jacquemont, Randi J Hagerman, Maureen A Leehey, Deborah A Hall, Richard A Levine, Kristin Herman

JAMA· January 2004

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