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Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

American journal of human genetics, 2017-10, Vol.101 (4), p.603-608

2017

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DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

Nature communications, 2020-05, Vol.11 (1), p.2510-14, Article 2510

2020

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Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

Genetics in medicine, 2019-05, Vol.21 (5), p.1164-1172

2019

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Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

American journal of human genetics, 2019-11, Vol.105 (5), p.1016-1022

2019

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Genome Biology, 2020-06, Vol.21 (1), p.1-145, Article 145

2020

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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1934-1945

2018

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Nature genetics, 2017-04, Vol.49 (4), p.537-549

2017

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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Brain (London, England : 1878), 2020-08, Vol.143 (8), p.2388-2397

2020

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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

Brain (London, England : 1878), 2022-04, Vol.145 (3), p.909-924

2022

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Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Genome medicine, 2021-10, Vol.13 (1), p.161-161, Article 161

2021

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

The New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417

2021

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Congenital glaucoma and CYP1B1: an old story revisited

Human genetics, 2019-09, Vol.138 (8-9), p.1043-1049

2019

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Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

American journal of human genetics, 2021-07, Vol.108 (7), p.1318-1329

2021

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KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon

Human genetics, 2023-03, Vol.142 (3), p.399-405

2023

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Autozygome and high throughput confirmation of disease genes candidacy

Genetics in medicine, 2019-03, Vol.21 (3), p.736-742

2019

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Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

The Journal of experimental medicine, 2020-03, Vol.217 (3)

2020

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A de novo mutation in FMR1 in a patient with intellectual disability

European journal of medical genetics, 2020-03, Vol.63 (3), p.103763, Article 103763

2020

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Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

Genetics in medicine, 2021-11, Vol.23 (11), p.2213-2218

2021

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

American journal of human genetics, 2022-10, Vol.109 (10), p.1867-1884

2022

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Genetics in medicine, 2021-09, Vol.23 (9), p.1715-1725

2021

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Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.604-607

2021

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ZNF668 deficiency causes a recognizable disorder of DNA damage repair

Human genetics, 2021-09, Vol.140 (9), p.1395-1401

2021

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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1509-1519

2020

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Expanding the phenome and variome of skeletal dysplasia

Genetics in medicine, 2018-12, Vol.20 (12), p.1609-1616

2018

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Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

KDM5A mutations identified in autism spectrum disorder using forward genetics

Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Congenital glaucoma and CYP1B1: an old story revisited

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon

Autozygome and high throughput confirmation of disease genes candidacy

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

A de novo mutation in FMR1 in a patient with intellectual disability

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA

ZNF668 deficiency causes a recognizable disorder of DNA damage repair

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Expanding the phenome and variome of skeletal dysplasia

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