Candace T. Myers

发表

Cyclic Nucleotide Gated Channels 7 and 8 Are Essential for Male Reproductive Fertility

S. Rogers, Meral Tunc-Ozdemir, R. Malhó, 2013, PloS one.

Calcium-dependent protein kinases regulate polarized tip growth in pollen tubes.

A. Harmon, J. Harper, C. Myers, 2009, The Plant journal : for cell and molecular biology.

Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature

R. Kapur, A. Goldstein, C. Myers, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Somatic activating BRAF variants cause isolated lymphatic malformations

R. Bly, V. Cheng, E. Rudzinski, 2021, medRxiv.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

Daniel G. Miller, H. Mefford, D. Nickerson, 2019, American journal of human genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Ingo Borggraefe, Holger Lerche, Renzo Guerrini, 2017, Neurology.

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

G. Carvill, I. Scheffer, H. Mefford, 2015, American journal of human genetics.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

H. Mefford, Wei-Che Lin, T. Fu, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

H. Mefford, E. Bacchelli, P. Striano, 2019, Annals of clinical and translational neurology.

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

H. Mefford, A. Palotie, J. Meier, 2015, EMBO molecular medicine.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

G. Carvill, D. Ledbetter, M. Ross, 2018, Genetics in Medicine.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Regulation of endothelial cell development by ETS transcription factors.

P. Krieg, S. Meadows, C. Myers, 2011, Seminars in cell & developmental biology.

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.