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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Human genetics, 2024-03, Vol.143 (3), p.279-291

2024

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An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population

Human genetics, 2024-03, Vol.143 (3), p.423-435

2024

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Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37

Human genetics, 2024-03, Vol.143 (3), p.211-232

2024

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Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

Human genetics, 2023, Vol.142 (1), p.125-138

2023

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A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

Human genetics, 2022-02, Vol.141 (2), p.217-227

2022

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Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

Human genetics, 2021-11, Vol.140 (11), p.1611-1618

2021

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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Human genetics, 2021-10, Vol.140 (10), p.1459-1469

2021

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Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population

Human genetics, 2021-03, Vol.140 (3), p.505-528

2021

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Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma

Human genetics, 2019-12, Vol.138 (11-12), p.1379-1389

2019

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EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population

Human genetics, 2019-06, Vol.138 (6), p.681-689

2019

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Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies

Human genetics, 2019-05, Vol.138 (5), p.455-466

2019

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Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33

Human genetics, 2019-04, Vol.138 (4), p.339-354

2019

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PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Human genetics, 2019-03, Vol.138 (3), p.231-239

2019

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Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

Human genetics, 2018-10, Vol.137 (10), p.847-862

2018

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Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease

Human genetics, 2018-09, Vol.137 (9), p.723-734

2018

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Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Human genetics, 2017-10, Vol.136 (10), p.1329-1339

2017

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Rare SLC1A1 variants in hot water epilepsy

Human genetics, 2017-06, Vol.136 (6), p.693-703

2017

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Y chromosome palindromes and gene conversion

Human genetics, 2017-05, Vol.136 (5), p.605-619

2017

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Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways

Human genetics, 2016-12, Vol.135 (12), p.1355-1364

2016

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Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations

Human genetics, 2016-11, Vol.135 (11), p.1279-1286

2016

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Chimeric transcripts resulting from complex duplications in chromosome Xq28

Human genetics, 2016-02, Vol.135 (2), p.253-256

2016

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Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements

Human genetics, 2016-02, Vol.135 (2), p.185-192

2016

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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population

Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma

EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies

Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Rare SLC1A1 variants in hot water epilepsy

Y chromosome palindromes and gene conversion

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways

Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations

Chimeric transcripts resulting from complex duplications in chromosome Xq28

Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements

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