E. Moran

发表

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

W. Chung, S. Bale, M. Hediger, 2015, Journal of Medical Genetics.

MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

K. Lohmann, N. Sobreira, Elizabeth S Wohler, 2022, Journal of Medical Genetics.

A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation

E. Guillén-Navarro, R. Wallerstein, E. Moran, 1998, Clinical Neurology and Neurosurgery.

Early prenatal ultrasound diagnosis of cleidocranial dysplasia

P. Stewart, R. Wallerstein, E. Moran, 2000, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

The Limb–Girdle Muscular Dystrophies: Is Treatment on the Horizon?

E. Moran, M. Chu, 2018, Neurotherapeutics.

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

J. Seidman, M. Bamshad, L. Jorde, 1999, American journal of human genetics.

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

A. Zinn, J. Pappas, B. Shah, 2009, The Journal of clinical endocrinology and metabolism.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Magalie S Leduc, J. Rosenfeld, R. Schiffmann, 2016, PLoS genetics.

S. Nelson, M. Reuter, J. Martinez-Agosto, 2021, Orphanet Journal of Rare Diseases.

Kufor‐Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese‐American Brothers

N. Hellmers, E. Noch, C. Henchcliffe, 2018, Movement disorders clinical practice.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, H. Firth, D. Rimoin, 2006, Journal of Medical Genetics.