Lacey Smith

发表

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

A Model Program for Translational Medicine in Epilepsy Genetics

Jeremy F. P. Ullmann, J. Ullmann, A. Poduri, 2017, Journal of child neurology.

Colin A. Ellis, R. Krause, Manuela Pendziwiat, 2020, American journal of human genetics.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Colin A. Ellis, P. Striano, F. Zara, 2021, Brain : a journal of neurology.

The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

I. Scheffer, D. Goldstein, H. Goodkin, 2019, Epilepsia.

asthma and modulated by maternal smoking RUNX transcription factors: association with pediatric

K. Haley, K. Tantisira, J. Lasky-Su, 2016 .

RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking.

K. Haley, K. Tantisira, J. Lasky-Su, 2011, American journal of physiology. Lung cellular and molecular physiology.

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Marina T. DiStefano, H. Mefford, David T. Miller, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

R. Deberardinis, S. Blaser, A. Poduri, 2018, American journal of medical genetics. Part A.

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

Nephi A. Walton, N. Lippa, Lacey Smith, 2022, Journal of genetic counseling.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

David A. Williams, Piotr Sliz, Lily Wang, 2020, npj Genomic Medicine.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

A. Toutain, R. Jobling, B. Krock, 2018, American journal of human genetics.

Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling

K. Helbig, Lacey Smith, B. Sheidley, 2018, Current Genetic Medicine Reports.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.

L. Swanson, A. Poduri, T. Benke, 2022, Pediatric neurology.

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

A. Poduri, Shira Rockowitz, Catherine Shain, 2020, Epilepsia.

Maternal smoking and the retinoid pathway in the developing lung

Rebecca M Baron, K. Haley, W. Cardoso, 2012, Respiratory Research.

Characterization of the GABRB2‐Associated Neurodevelopmental Disorders

L. Vissers, H. Lerche, R. Møller, 2020, Annals of neurology.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

C. Brownstein, Andrew Quitadamo, T. Yu, 2020, npj Genomic Medicine.

Clinical Reasoning: A 6-week-old infant with migrating focal seizures

J. Peters, Lacey Smith, C. E. El Achkar, 2020, Neurology.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

A. Poduri, N. Singhal, J. Sullivan, 2018, Epilepsia.

Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling

Lacey Smith, Lacey A. Smith, Jessica Douglas, 2015, Journal of Genetic Counseling.

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria

P. May, M. Nothnagel, I. Helbig, 2023, medRxiv.

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

Courtney E. French, A. Poduri, Shira Rockowitz, 2023, JAMA network open.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.

A. Poduri, Scott T Demarest, H. Olson, 2023, Developmental medicine and child neurology.