Publications by authors named "Lisa T Emrick"

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Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.
Emily R Waskow, , Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar

Am J Med Genet A· January 2025

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Systemic complications of Aicardi Goutières syndrome using real-world data.
Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, Sarah Woidill, Francesco Gavazzi, Lisa T Emrick

Mol Genet Metab· October 2024

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Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Esther Yoon, Kay-Marie Lamar, Lisa T Emrick

N Engl J Med· October 2024

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Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.
Chetan Immanneni, Daniel Calame, Song Jiao, Lisa T Emrick, Miguel Holmgren

Neurol Genet· June 2024

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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Lisa T Emrick

Brain· May 2024

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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, Jamie L Fraser, Joshua L Bonkowsky, Lisa T Emrick

Mol Genet Metab· May 2024

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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
Ameya S Walimbe, Keren Machol, Stephen F Kralik, Elizabeth A Mizerik, Yoel Gofin, Lisa T Emrick

BMC Neurol· March 2024

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Novel syndromic neurodevelopmental disorder caused by deletion of , a long noncoding RNA.
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Lisa T Emrick

medRxiv· February 2024

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Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.
Daniel G Calame, Lisa T Emrick

Neurotherapeutics· January 2024

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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
F Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Lisa T Emrick

Am J Hum Genet· April 2023

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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Lisa T Emrick

Ann Neurol· August 2022

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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A Rosenfeld, Jennifer A Bassetti, Lisa T Emrick

Mol Autism· October 2021

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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Ronit Marom, Lindsay C Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Lisa T Emrick

Am J Hum Genet· September 2021

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-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease.
Daniel G Calame, Meagan Hainlen, Danielle Takacs, Leah Ferrante, Kayla Pence, Lisa T Emrick

Neurol Genet· February 2021

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Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, William Berquist, Natalia Gomez-Ospina, Lisa T Emrick

Mol Genet Metab· May 2020

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Dongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, Anita E Beck, Emily G Farrow, Lisa T Emrick

Am J Hum Genet· April 2020

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The Expanding Role of Genetics in Cerebral Palsy.
Lisa T Emrick, Shannon M DiCarlo

Phys Med Rehabil Clin N Am· February 2020

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Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Adam D Kennedy, Kirk L Pappan, Taraka Donti, Mauricio R Delgado, Marwan Shinawi, Lisa T Emrick

Front Neurosci· January 2020

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Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Lisa T Emrick, Jill A Rosenfeld, Seema R Lalani, Mahim Jain, Nilesh K Desai

Genet Med· July 2019

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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Adam D Kennedy, Kirk L Pappan, Taraka Donti, Mauricio R Delgado, Marwan Shinawi, Lisa T Emrick

Front Neurosci· May 2019

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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Maureen Handoko, Lisa T Emrick, Jill A Rosenfeld, Xia Wang, Alyssa A Tran

Am J Med Genet A· March 2019

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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Taraka R Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S Atwal, Lisa T Emrick

Mol Genet Metab Rep· September 2016

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Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.
Ayman W El-Hattab, Lisa T Emrick, Jean W Hsu, Sirisak Chanprasert, Mohammed Almannai

Mol Genet Metab· April 2016

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Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Arindam Sarkar, Lisa T Emrick, Eboni M Smith, Elise G Austin, Yaping Yang

Am J Med Genet A· April 2015

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The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.
Ayman W El-Hattab, Lisa T Emrick, Kaitlin C Williamson, William J Craigen, Fernando Scaglia

Meta Gene· December 2013

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