Featured
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DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
- Marcello Niceta
- , Andrea Ciolfi
- & Marco Tartaglia
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| Open Access
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
- Lea Urpa
- , Mitja I. Kurki
- & Mark J. Daly
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| Open Access
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
- Pål Marius Bjørnstad
- , Ragnhild Aaløkken
- & Gregor D. Gilfillan
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Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
- Milena Atique Tacla
- , Matheus de Mello Copelli
- & Vera Lúcia Gil-da-Silva-Lopes
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| Open Access
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
- Bart P. G. H. van der Sanden
- , Gaby Schobers
- & Lisenka E. L. M. Vissers
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| Open Access
A comparison of genotyping arrays
- Joost A. M. Verlouw
- , Eva Clemens
- & Linda Broer
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| Open Access
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
- Leslie Matalonga
- , Carles Hernández-Ferrer
- & Andreas Rump
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Characterisation of a second gain of function EDAR variant, encoding EDAR380R, in East Asia
- Jon Riddell
- , Chandana Basu Mallick
- & Denis J. Headon
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Viewpoint |
Diaspora, migration, and the sciences: a new integrated perspective
- Leonard Rutgers
- , Harry Ostrer
- & Hannes Schroeder
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Re-assessment of multiple testing strategies for more efficient genome-wide association studies
- Takahiro Otani
- , Hisashi Noma
- & Shigeyuki Matsui
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| Open Access
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
- Alistair T Pagnamenta
- , Yoshiko Murakami
- & Usha Kini
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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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| Open Access
Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA
- Fiona S Togneri
- , Douglas G Ward
- & Richard T Bryan
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| Open Access
Identity-by-descent mapping in a Scandinavian multiple sclerosis cohort
- Helga Westerlind
- , Kerstin Imrell
- & Jan Hillert
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An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3
- Céline Pebrel-Richard
- , Anne Debost-Legrand
- & Christine Francannet
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| Open Access
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
- Joanna Wiszniewska
- , Weimin Bi
- & Ankita Patel
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Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example
- Micaela Poetsch
- , Aline Wiegand
- & Nicole von Wurmb-Schwark
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Molecular and clinical delineation of the 17q22 microdeletion phenotype
- Tobias Laurell
- , Johanna Lundin
- & Ann Nordgren
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| Open Access
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
- Aurélie Vasson
- , Céline Leroux
- & Mireille Cossée
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Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
- Ranad Shaheen
- , Eissa Faqeih
- & Fowzan S Alkuraya
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Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders
- Barbara Wiśniowiecka-Kowalnik
- , Monika Kastory-Bronowska
- & Paweł Stankiewicz
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Short Report |
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders
- Sandesh C S Nagamani
- , Ayelet Erez
- & Sau Wai Cheung
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Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q
- Michal Dekel-Naftali
- , Ayala Aviram-Goldring
- & Shlomit Rienstein
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Short Report |
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene
- Aliya Ishmukhametova
- , Philippe Khau Van Kien
- & Sylvie Tuffery-Giraud
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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
- Chris MJ van Uum
- , Servi JC Stevens
- & Edith Coonen
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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies
- Andrée Delahaye
- , Pierre Bitoun
- & Brigitte Benzacken
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2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders
- Xudong Liu
- , Patrick Malenfant
- & Jeanette JA Holden
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Short Report |
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
- Jamal Ghoumid
- , Joris Andrieux
- & Muriel Holder-Espinasse
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| Open Access
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
- Mafalda Cacciottolo
- , Gelsomina Numitone
- & Vincenzo Nigro
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
- Sarah Vergult
- , Danijela Krgovic
- & Björn Menten
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Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
- Diana Mitter
- , Reinhard Ullmann
- & Dietmar Lohmann
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Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome
- Chirag Patel
- , Lisa Cooper-Charles
- & Jenny Morton
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Identification of regions of positive selection using Shared Genomic Segment analysis
- Zheng Cai
- , Nicola J Camp
- & Alun Thomas
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Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
- Rob Hastings
- , Jan-Maarten Cobben
- & Ruth Newbury-Ecob
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The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
- Sally Ann Lynch
- , Nicola Foulds
- & Freddie Sharkey
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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes
- Jill A Rosenfeld
- , Lindsey E Stephens
- & Lisa G Shaffer
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Short Report |
Quality standards in Biobanking: authentication by genetic profiling of blood spots from donor's original sample
- Sergio Cardoso
- , Laura Valverde
- & Marian M de Pancorbo
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations