Featured
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Short Report |
The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels
- Tea Berulava
- & Bernhard Horsthemke
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Article |
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
- Deborah J Morris-Rosendahl
- , Reeval Segel
- & Fran Faes
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Short Report |
Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies
- Alix de Becdelièvre
- , Catherine Costa
- & Emmanuelle Girodon
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Article |
Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening
- Belinda J McClaren
- , Sylvia A Metcalfe
- & David J Amor
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Article |
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements
- Annabel Whibley
- , Jill Urquhart
- & F Lucy Raymond
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Article |
Genomic profile of copy number variants on the short arm of human chromosome 8
- Shihui Yu
- , Stephanie Fiedler
- & William D Graf
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Article |
Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly
- Margje Sinnema
- , Kees E P van Roozendaal
- & Leopold M G Curfs
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Short Report |
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)
- Nina A Schlipf
- , Christian Beetz
- & Ludger Schöls
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Article |
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
- Veronica Parri
- , Eleni Katzaki
- & Francesca Ariani
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Short Report |
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30
- Ching-Chyuan Su
- , Shuan-Yow Li
- & Jiann-Jou Yang
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Article |
The power of the Transmission Disequilibrium Test in the presence of population stratification
- Ronnie Sebro
- & John J Rogus
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Article |
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism
- Lucie Tosca
- , Sophie Brisset
- & Gérard Tachdjian
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Article |
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
- Marjolijn Renard
- , Tammy Holm
- & Bart L Loeys
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Clinical Utility Gene Card |
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]
- Mine Arslan-Kirchner
- , Eloisa Arbustini
- & Laurence Faivre
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Article |
Detection of susceptibility genes as modifiers due to subgroup differences in complex disease
- Sarah E Bergen
- , Brion S Maher
- & Kenneth S Kendler
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Article |
What is a meaningful result? Disclosing the results of genomic research in autism to research participants
- Fiona Alice Miller
- , Robin Zoe Hayeems
- & Jessica Peace Bytautas
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Short Report |
The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases
- Ines Zanna
- , Piera Rizzolo
- & Laura Ottini
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Short Report |
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities
- Amy R Frost
- , Sabrina V Böhm
- & Roland G Roberts
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Meeting Report |
RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases
- Mario Tosi
- , Stefan Stamm
- & Diana Baralle
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Article |
Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk
- María L Cavanillas
- , Antonio Alcina
- & Elena Urcelay
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Short Report |
The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency
- Alessandra Pontillo
- , Elisa Paoluzzi
- & Sergio Crovella
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Article |
Paternal origin of the de novo constitutional t(11;22)(q23;q11)
- Tamae Ohye
- , Hidehito Inagaki
- & Hiroki Kurahashi
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Clinical Utility Gene Card |
Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII
- Karin Mayer
- , Ingo Kennerknecht
- & Beat Steinmann
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Article |
Mammary-digital-nail (MDN) syndrome: a novel phenotype maps to human chromosome 22q12.3–13.1
- Mira Genzer-Nir
- , Morad Khayat
- & Tzipora C Falik-Zaccai
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Clinical Utility Gene Card |
Clinical utility gene card for: Haemochromatosis [HFE]
- Manfred Stuhrmann
- , Heinz Gabriel
- & Stephen Keeney
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Clinical Utility Gene Card |
Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)
- Eberhard Schwinger
- , Koen Devriendt
- & Nicole Philip
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Article |
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
- Cristina Gervasini
- , Federica Mottadelli
- & Lidia Larizza
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Article |
Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations
- Roxann G Ingersoll
- , Jacqueline Hetmanski
- & Terri H Beaty
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Article |
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
- Amla Kuechler
- , Berthold P Hauffa
- & Jörg Gromoll
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Article |
Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis
- Kathryn E McDougal
- , Deanna M Green
- & Garry R Cutting
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Article |
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
- Luigi Bisceglia
- , Stefano Zoccolella
- & Vittoria Petruzzella
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Article |
Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34
- Frauke Stanke
- , Colin Davenport
- & Burkhard Tümmler