Ellyn Farrelly

发表

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

J. Rosenfeld, J. Lupski, J. Belmont, 2017, Genome Medicine.

Genetic Counseling for Prenatal Testing: Where is the Discussion About Disability?

K. Ormond, D. Roter, M. Cho, 2012, Journal of Genetic Counseling.

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Diane B. Zastrow, E. Ashley, M. Wheeler, 2017, Cold Spring Harbor molecular case studies.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Neurofibromatosis Type 1 and Polydactyly

D. Stevenson, Ellyn Farrelly, A. D'Angelo, 2018, Case Reports in Orthopedic Research.

Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis

D. Stevenson, Ellyn Farrelly, Wesley Y Ho, 2022, American journal of medical genetics. Part A.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

R. Pfundt, S. Skinner, R. Louie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences

D. Stevenson, P. Magoulas, Ellyn Farrelly, 2020, Journal of Pediatric Genetics.

Mutations in MAST1 cause mega-corpus-callosum with

Martin W. Breuss, A. Pagnamenta, D. Keays, 2019 .