Clinical Genetics: Vol 86, No 6

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Clinical Genetics

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Clinical Genetics: Volume 86, Issue 6

HOTSPOTS

Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems

Progressive microcephaly is caused by compound-heterozygous mutations in QARS

ORIGINAL ARTICLES

Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

SHORT REPORTS

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith–Wiedemann syndrome patient

Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys–Dietz syndrome and phenotype–genotype correlations

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population

Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract

Evolution of a genetic diagnosis

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations

LETTERS TO THE EDITOR

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot–Marie–Tooth neuropathy

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2

Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes

CORRESPONDENCE

Reevaluation of the CMT1A duplication frequency in Greek Charcot-Marie-Tooth type 1 patients

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Clinical Genetics

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Clinical Genetics: Volume 86, Issue 6

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HOTSPOTS

Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems

Progressive microcephaly is caused by compound-heterozygous mutations in QARS

ORIGINAL ARTICLES

Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

SHORT REPORTS

Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith–Wiedemann syndrome patient

Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys–Dietz syndrome and phenotype–genotype correlations

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population

Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract

Evolution of a genetic diagnosis

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations

LETTERS TO THE EDITOR

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot–Marie–Tooth neuropathy

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2

Overview of Bardet–Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes

CORRESPONDENCE

Reevaluation of the CMT1A duplication frequency in Greek Charcot-Marie-Tooth type 1 patients

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