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Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature
- Miya St John
- , Olivia van Reyk
- & Angela T. Morgan
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Correspondence |
Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
- Laila El Khattabi
- , Fabien Guimiot
- & Andrée Delahaye-Duriez
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Article |
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
- Aafke Engwerda
- , Erika K. S. M. Leenders
- & Wilhelmina S. Kerstjens-Frederikse
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Article
| Open AccessERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
- Zerin Hyder
- , Wim Van Paesschen
- & Siddharth Banka
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Estimation of the number of people with Down syndrome in Europe
- Gert de Graaf
- , Frank Buckley
- & Brian G. Skotko
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Article
| Open AccessAssociation of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank
- Simon G. Williams
- , Apostol Nakev
- & Bernard D. Keavney
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Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster
- Cédric Le Caignec
- , Olivier Pichon
- & Annick Toutain
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Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene
- Paolo Prontera
- , Daniela Rogaia
- & Gabriela Stangoni
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Article |
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity
- Elena Cellini
- , Annalisa Vetro
- & Renzo Guerrini
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Article |
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture
- Aurélien Trimouille
- , Angèle Tingaud-Sequeira
- & Caroline Rooryck
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Article |
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin
- Cinthya J. Zepeda-Mendoza
- , Alexandra Bardon
- & Cynthia C. Morton
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Article |
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
- Aurélien Trimouille
- , Nada Houcinat
- & Sébastien Moutton
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Article |
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
- Jessica Le Gall
- , Mathilde Nizon
- & Bertrand Isidor
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Article |
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
- Ilse M van der Werf
- , Karin Buiting
- & R Frank Kooy
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Short Report |
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
- Samantha LP Schilit
- , Benjamin B Currall
- & Cynthia C Morton
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Article |
The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial
- Lean Beulen
- , Michelle van den Berg
- & Mireille N Bekker
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Short Report |
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
- Tamar I de Vries
- , Glen R Monroe
- & Mieke M van Haelst
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Article |
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
- Julien Thevenon
- , Céline Souchay
- & Laurence Faivre
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Article |
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
- Sophie Nambot
- , Alice Masurel
- & Laurence Faivre
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Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
- Malgorzata I Srebniak
- , Karin EM Diderich
- & Diane Van Opstal
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Article |
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
- Ching Moey
- , Susan J Hinze
- & Cheryl Shoubridge
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Article |
The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review
- Giles Atton
- , Kristiana Gordon
- & Sahar Mansour
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Article |
Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies
- Antonio Capalbo
- , Nathan R Treff
- & Richard T Scott Jr
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Article |
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability
- Sarah Vergult
- , Annelies Dheedene
- & Björn Menten
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Short Report |
A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1
- Servi J C Stevens
- , Eveline W Blom
- & Eric E J G L Smeets
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Short Report |
Genome-wide UPD screening in patients with intellectual disability
- Christopher Schroeder
- , Arif Bülent Ekici
- & Michael Bonin
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Article |
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements
- Trilochan Sahoo
- , Jia-Chi Wang
- & Marilyn Jones
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Article |
Fragile X syndrome due to a missense mutation
- Leila K Myrick
- , Mika Nakamoto-Kinoshita
- & Stephen T Warren
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Article
| Open AccessSomatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
- Justin Pham
- , Chad Shaw
- & Sau-Wai Cheung
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Short Report |
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype
- Lucie Coppin
- , Claudine Grutzmacher
- & Pascal Pigny
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Short Report |
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome
- Willemien Beukers
- , Aleksander Hercegovac
- & Ellen C Zwarthoff
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Article |
Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD
- Paul N Scriven
- , Susan M Bint
- & Caroline Mackie Ogilvie
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Article |
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
- Sarah Vergult
- , Ellen Van Binsbergen
- & Björn Menten
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Short Report |
Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders
- Julie Steffann
- , Caroline Michot
- & Arnold Munnich
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Article |
Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf–Hirschhorn Syndrome
- Erica F Andersen
- , John C Carey
- & Sarah T South
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Article
| Open AccessThe strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2
- Lusine Nazaryan
- , Eunice G Stefanou
- & Niels Tommerup
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Clinical Utility Gene Card |
Clinical utility gene card for: Beckwith–Wiedemann Syndrome
- Thomas Eggermann
- , Elizabeth Algar
- & Rosanna Weksberg
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Article |
Non-meiotic chromosome instability in human immature oocytes
- Gemma Daina
- , Laia Ramos
- & Joaquima Navarro
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Short Report |
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling
- Carole Corsini
- , Martin Gencik
- & David Genevieve
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Article |
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p
- Fiorella Gurrieri
- , Marcella Zollino
- & Giovanni Neri
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Article |
Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene
- Sung Pyo Park
- , In Hwan Hong
- & Stanley Chang
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Short Report |
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation
- Anne Frühmesser
- , Jonathon Blake
- & Dieter Kotzot
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Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study
- Paul N Scriven
- , Frances A Flinter
- & Caroline Mackie Ogilvie
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Article |
Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome
- Jean-Baptiste Le Pichon
- , Shihui Yu
- & Douglas C Bittel
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Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010
- Jianhua Wu
- & Joan K Morris
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Molecular and clinical delineation of the 17q22 microdeletion phenotype
- Tobias Laurell
- , Johanna Lundin
- & Ann Nordgren
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Short Report |
The population prevalence of Down’s syndrome in England and Wales in 2011
- Jianhua Wu
- & Joan K Morris
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Short Report |
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
- Andreas Rump
- , Laura Hildebrand
- & Diana Mitter