Loreta Cimbalistienė

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Adriana M. Montaño, Lock Hock Ngu, Robert D. Steiner et al. · Journal of Medical Genetics · 2016 · 162 citations · Full text

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin et al. · The American Journal of Human Genetics · 2017 · 58 citations · Full text

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 30 citations · Full text

New Patients, Mendelian Disorder, Genetic Disorder +9

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

Alireza Haghighi, Zohreh Kavehmanesh, Alireza Haghighi et al. · Clinical Genetics · 2015 · 29 citations · Full text

Metabolic Disorder, Genetics, Genetic Epidemiology +19