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Article
| Open Access
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa
- Kimberly Christine Coetzer
- , Ekkehard Zöllner
- & Shahida Moosa
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Article |
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
- Avivit Cahn
- , Hagar Mor-Shaked
- & Tamar Harel
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Brief Communication
| Open Access
Abdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesity
- Jared G. Maina
- , Vincent Pascat
- & Inga Prokopenko
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Review Article
| Open Access
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
- Yasmin Al Sayed
- & Sasha R. Howard
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Article |
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
- Anne Sophie Neyroud
- , Joëlle Rudinger-Thirion
- & Sylvie Jaillard
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Article |
Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors
- Yann C. Klimentidis
- , Zhao Chen
- & Karen L. Herbst
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Article |
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment
- Giulia Rodari
- , Roberta Villa
- & Claudia Giavoli
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Article |
Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians
- Yunhua L. Muller
- , Michael Saporito
- & Leslie J. Baier
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Brief Communication |
A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?
- Aristeidis Giannakopoulos
- , Amalia Sertedaki
- & Dionisios Chrysis
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Article |
Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study
- Mette Hansen Viuff
- , Kirstine Stochholm
- & Claus Højbjerg Gravholt
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Article |
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants
- Aurélie Pham
- , Marie-Laure Sobrier
- & Irène Netchine
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Review Article |
Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases
- Noa Hurvitz
- , Henny Azmanov
- & Yaron Ilan
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Correspondence
| Open AccessReply to Lao Q and Merke DP
- Sabina Baumgartner-Parzer
- , Martina Witsch-Baumgartner
- & Wolfgang Hoeppner
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Correspondence
| Open AccessMolecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras
- Qizong Lao
- & Deborah P. Merke
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Policy
| Open Access
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Sabina Baumgartner-Parzer
- , Martina Witsch-Baumgartner
- & Wolfgang Hoeppner
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Article |
Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
- Lotte Kleinendorst
- , Sanne I. M. Alsters
- & Mieke M. van Haelst
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Article |
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
- Aurélien Juven
- , Sophie Nambot
- & Laurence Faivre
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Brief Communication |
Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant
- Clara S. H. Tan
- , Su Fen Ang
- & Su Chi Lim
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Article |
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016
- Maria Yakoreva
- , Tiina Kahre
- & Katrin Õunap
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Brief Communication |
Precision medicine for a man presented with diabetes at 2-month old
- Su Fen Ang
- , Clara Si Hua Tan
- & Su Chi Lim
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Article |
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
- Lukas Soellner
- , Florian Kraft
- & Thomas Eggermann
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Article |
Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1
- Michael Hubberten
- , Gregor Bochenek
- & Arne S. Schaefer
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Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
- Núria Camats
- , Mónica Fernández-Cancio
- & Christa E. Flück
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A novel variant associated with HDL-C levels by modifying DAGLB expression levels: An annotation-based genome-wide association study
- Dan Zhou
- , Dandan Zhang
- & Maode Lai
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Article |
SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester
- Shwetha Ramachandrappa
- , Abhijit Kulkarni
- & Sahar Mansour
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Article |
Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families
- Tuuli Mustonen
- , Eeva-Kaisa Schmidt
- & Sari Kiuru-Enari
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Short Report |
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
- Jamal Ghoumid
- , Florence Petit
- & Sylvie Manouvrier-Hanu
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Article |
A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics
- Márton Doleschall
- , Andrea Luczay
- & Attila Patócs
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Clinical Utility Gene Card |
Clinical utility gene card for: Sitosterolaemia
- Amanda J Hooper
- , Damon A Bell
- & John R Burnett
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Clinical Utility Gene Card |
Clinical Utility Gene Card for: Familial partial lipodystrophy
- Isabelle Jéru
- , Camille Vatier
- & Olivier Lascols
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Clinical Utility Gene Card |
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy
1. Name of the disease (synonyms):
There are four subclasses of Congenital Generalized Lipodystrophy (CGL), also named Berardinelli–Seip Congenital Lipodystrophy (BSCL):
Type 1 CGL (CGL1).
Type 2 CGL (CGL2).
Type 3 CGL (CGL3).
Type 4 CGL (CGL4).
2. OMIM# of the disease:
CGL1: #608594.
CGL2: #269700.
CGL3: #612526.
CGL4: #613327.
3. Name of the analysed genes or dna/chromosome segments:
CGL1: AGPAT2.
CGL2: BSCL2.
CGL3: CAV1.
CGL4: PTRF.
4. OMIM# of the gene(s):
AGPAT2: *603100.
BSCL2: *606158.
CAV1: *601047.
PTRF: *603198.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the four gene(s) in ⊠ diagnostic, □ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.
- Isabelle Jéru
- , Camille Vatier
- & Olivier Lascols
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Article |
Against all odds: blended phenotypes of three single-gene defects
- Yong Li
- , Anika Salfelder
- & Ekkehart Lausch
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Article |
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
- Petra Dusatkova
- , Roland Pfäffle
- & Jan Lebl
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No evidence for increased mortality in SDHD variant carriers compared with the general population
- Leonie T van Hulsteijn
- , Berdine Heesterman
- & Olaf M Dekkers
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Short Report |
Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants
- Ursula Kassner
- , Bastian Salewsky
- & Ilja Demuth
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Short Report |
The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome
- Alexander S Busch
- , Frank Tüttelmann
- & Jörg Gromoll
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Article
| Open Access
Evaluation of European coeliac disease risk variants in a north Indian population
- Sabyasachi Senapati
- , Javier Gutierrez-Achury
- & Gosia Trynka
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Policy |
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
- Intza Garin
- , Giovanna Mantovani
- & Ralf Werner
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Article |
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands
- Stephanie S Weinreich
- , Astrid Bosma
- & Martina C Cornel
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Article
| Open Access
Prepubertal start of father’s smoking and increased body fat in his sons: further characterisation of paternal transgenerational responses
- Kate Northstone
- , Jean Golding
- & Marcus Pembrey
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Article |
Characterization of the transcriptional machinery bound across the widely presumed type 2 diabetes causal variant, rs7903146, within TCF7L2
- Qianghua Xia
- , Sandra Deliard
- & Struan FA Grant
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Clinical Utility Gene Card |
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related
- Deborah Mackay
- , Susanne Bens
- & I Karen Temple
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Clinical Utility Gene Card |
Clinical utility gene card for: Maturity-onset diabetes of the young
- Kevin Colclough
- , Cécile Saint-Martin
- & Christine Bellanné-Chantelot
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Article
| Open Access
Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population
- Shengting Li
- , Soren Besenbacher
- & Mikkel H Schierup
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Clinical Utility Gene Card |
Clinical utility gene card for: Hyperlipoproteinemia, TYPE II
- Ursula Kassner
- , Marion Wühle-Demuth
- & Ilja Demuth
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Article |
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
- Martine Doco-Fenzy
- , Camille Leroy
- & David Geneviève
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Article |
Identification of potential microRNA–target pairs associated with osteopetrosis by deep sequencing, iTRAQ proteomics and bioinformatics
- Minglin Ou
- , Xiaoqing Zhang
- & Min Ding
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Article |
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
- Soara Menabò
- , Seher Polat
- & Felix G Riepe
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements