Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

Mari‐Anne Vals, Tiina Kahre, Pille Mee, +5

Molecular Syndromology

Beckwith-wiedemann SyndromeDevelopmental AnomalyBeckwith-wiedemann SyndromesDevelopmental BiologySilver-russell Syndrome +13

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients

Mari‐Anne Vals, Angel Ashikov, Pilvi Ilves, +19

Journal of Inherited Metabolic Disease

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

Maria Yakoreva, Tiina Kahre, Riina Žordania, +11

European Journal of Human Genetics

Retrospective AnalysisPsychiatry

High incidence of low vitamin B12 levels in Estonian newborns

Karit Reinson, Kadi Künnapas, Annika Kriisa, +3

Molecular Genetics and Metabolism Reports

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

Mari‐Anne Vals, Sander Pajusalu, Mart Kals, +2

JIMD Reports

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

Sander Pajusalu, Mari‐Anne Vals, Laura Mihkla, +3

Frontiers in Genetics

GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationGenomics +18

Follow‐up study of 2‐year‐olds born at very low gestational age in <scp>E</scp>stonia

Liis Toome, Heili Varendi, Mairi Männamaa, +3

Acta Paediatrica

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Mari‐Anne Vals, Eve Õiglane‐Shlik, Margit Nõukas, +6

European Journal of Human Genetics

Metabolic SyndromeMetabolic DisorderArid1b GeneCoffin–siris SyndromeDisease Mechanism +10

Three families with mild PMM2‐CDG and normal cognitive development

Mari‐Anne Vals, Éva Morava, Kai Teeäär, +4

American Journal of Medical Genetics Part A

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Peter Linders, Eveline C. F. Gerretsen, Angel Ashikov, +15

Nature Communications