The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :• Dysmorphology and syndrome delineation• Molecular genetics and molecular cytogenetics of inherited disorders• Clinical applications of genomics and nextgen sequencing technologies• Syndromal cancer genetics• Behavioral genetics• Community genetics• Fetal pathology and prenatal diagnosis• Genetic counseling.
《欧洲医学遗传学杂志》（EJMG）是一份同行评审期刊，以英语发表人类和医学遗传学以及实验模型遗传学的各个方面的文章。欢迎发表原创临床和实验研究文章、简短临床报告、综述文章以及致编辑的信件，主题包括：·形态异常和综合征描述·遗传性疾病的分子遗传学和分子细胞遗传学·基因组学和下一代测序技术的临床应用·综合征癌症遗传学·行为遗传学·社区遗传学·胎儿病理学和产前诊断·遗传咨询。
Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.07.008
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.04.011
Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.07.019
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.08.011
Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.04.016
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.01.009
Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.06.010
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103704
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.02.007
Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.07.002
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.04.012
ATM mutation spectrum in Russian children with ataxia-telangiectasia.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.02.003
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.05.001
Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103713
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103831
Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103681
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103735
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.09.004
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103751
From phenotyping to genotyping - bioinformatics for the busy clinician.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103689
De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.01.015
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.04.006
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103799
Reasonable expectations of privacy in non-disclosure of familial genetic risk: What is it reasonable to expect?
来源期刊：European Journal of Medical GeneticsDOI：10.1016/j.ejmg.2018.11.013
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.07.022
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.09.001
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103737
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103817
Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin a nephropathy.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103780
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.06.011
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.04.007
Genes dysregulated in the blood of people with Williams syndrome are enriched in protein-coding genes positively selected in humans.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103828
An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103672
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.08.012
Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.07.018
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103819
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.01.011
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2018.05.007
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103725
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103774
Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103773
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.01.003
Hypertension in Potocki-Shaffer syndrome: A case report.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.02.005
Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103812
Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103706
Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103818
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103726
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.04.005
A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103764
Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism.
来源期刊：European journal of medical geneticsDOI：10.1016/j.ejmg.2019.103803
