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Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
- Luitgard M Graul-Neumann
- , Alexandra Deichsel
- & Petra Seemann
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Short Report |
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
- Hui Zhao
- , Valérie Race
- & Philip Van Damme
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Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing
- Zippora Brownstein
- , Amal Abu-Rayyan
- & Karen B Avraham
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Short Report |
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides
- Nelly Sabbaghian
- , Archana Srivastava
- & William D Foulkes
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Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation
- Yonatan Perez
- , Libe Gradstein
- & Ohad S Birk
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Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction
- Dario Degiorgio
- , Paola A Corsetto
- & Domenico A Coviello
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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
- Soara Menabò
- , Seher Polat
- & Felix G Riepe
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Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
- Emil Ylikallio
- , Mridul Johari
- & Henna Tyynismaa
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Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
- Thatjana Gardeitchik
- , Miski Mohamed
- & Eva Morava
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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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Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
- Shery Thomas
- , Mervyn G Thomas
- & Irene Gottlob
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Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB
- Chun T Kwok
- , Alex Morris
- & Jacqueline S de Belleroche
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New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia
- Sergio Lainez
- , Karl Peter Schlingmann
- & Joost G Hoenderop
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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
- Cécile Rouzier
- , Annabelle Chaussenot
- & Véronique Paquis-Flucklinger
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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
- Arjan PM de Brouwer
- , Sander B Nabuurs
- & Tjitske Kleefstra
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Short Report |
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred
- Adi Mory
- , Francesc X Ruiz
- & Ruth Gershoni-Baruch
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A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family
- Yeşerin Yıldırım
- , Metin Kerem
- & Aslıhan Tolun
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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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Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
- Idan Cohen
- , Eldad Silberstein
- & Ohad S Birk
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A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia
- B Rivera
- , J Perea
- & M Urioste
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Short Report |
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
- Solaf M Elsayed
- , Raoul Heller
- & Hanno J Bolz
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Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
- Alžběta Vondráčková
- , Kateřina Veselá
- & Markéta Tesařová
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CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort
- Sara Ciullini Mannurita
- , Marina Vignoli
- & Eleonora Gambineri
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Mutations in the C-terminus of CDKL5: proceed with caution
- Bertrand Diebold
- , Chloé Delépine
- & Thierry Bienvenu
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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)
- Pierre Cacciagli
- , Jean-Pierre Desvignes
- & Laurent Villard
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Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
- N Di Donato
- , A Rump
- & A Verloes
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Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
- Simone Rost
- , Elisa Bach
- & Erdmute Kunstmann
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| Open AccessClinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
- Johanna Uusimaa
- , Julie Evans
- & Joanna Poulton
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Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster
- Michelle B Polan
- , Matthew T Pastore
- & Kim L McBride
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Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability
- Marie Vincent
- , Corinne Collet
- & David Geneviève
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S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice
- Désirée Rutschow
- , Ralf Bauer
- & Oliver J Müller
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A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient
- May Sanyoura
- , Cédric Woudstra
- & Cécile Julier
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Short Report
| Open AccessWhole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
- James A Poulter
- , Walid El-Sayed
- & Alan J Mighell
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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12
- Christophe Goubau
- , Koen Devriendt
- & Kathleen Freson
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Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST
- Maria A Pantaleo
- , Annalisa Astolfi
- & Guido Biasco
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Homozygosity analysis in amyotrophic lateral sclerosis
- Kin Mok
- , Hannu Laaksovirta
- & Richard W Orrell
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
- Nicola Glöckle
- , Susanne Kohl
- & John Neidhardt
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A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution
- Robert W Davies
- , Paulina Lau
- & Ruth McPherson
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Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients
- Giovanni Corso
- , Valeria Pascale
- & Franco Roviello
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De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
- Alina Hilger
- , Charlotte Schramm
- & Markus Draaken
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Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans
- Vanita Berry
- , Cheryl Gregory-Evans
- & Shomi S Bhattacharya
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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)
- Michael Gonzalez
- , Sheela Nampoothiri
- & Rebecca Schüle
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Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
- Ilena Egle Astrid Li Mura
- , Barbara Bauce
- & Alessandra Rampazzo
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Short Report |
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome
- Ken Higashimoto
- , Toshiyuki Maeda
- & Hidenobu Soejima
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Short Report |
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay
- Jens Witsch
- , Przemyslaw Szafranski
- & Christian P Schaaf
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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
- Corry MR Weemaes
- , Maarten JD van Tol
- & Silvère M van der Maarel
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Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration
- Huei-Hsin Chiang
- , Charlotte Forsell
- & Caroline Graff