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
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