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Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

Scientific reports, 2022-03, Vol.12 (1), p.5215-5215, Article 5215

2022

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UK and US risk factors for hearing loss in neonatal intensive care unit infants

PloS one, 2024-07, Vol.19 (7), p.e0291847

2024

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.291-297

2022

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A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark

Genes, 2024-07, Vol.15 (7), p.925

2024

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Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease

Breathe (Lausanne, Switzerland), 2020-03, Vol.16 (1), p.190319-190319

2020

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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Orphanet journal of rare diseases, 2014-02, Vol.9 (1), p.23-23, Article 23

2014

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Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing loss

Frontiers in pediatrics, 2023-01, Vol.10, p.1068884-1068884

2023

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Neurologic Presentation of Triple A Syndrome

Pediatric neurology, 2011-11, Vol.45 (5), p.347-349

2011

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17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2317-2321

2012

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The phenotype of EZH2 haploinsufficiency—1.2‐Mb deletion at 7q36.1 in a child with tall stature and intellectual disability

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2731-2735

2017

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Genomic medicine for the paediatrician

Paediatrics and child health, 2019-04, Vol.29 (4), p.185-189

2019

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MO030: Familial clustering of a rare UMOD variant in undiagnosed hereditary nephropathy suggests the presence of a common ancestral founder mutation

Nephrology, dialysis, transplantation, 2022-05, Vol.37 (Supplement_3)

2022

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When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

Practical Neurology, 2016-04, Vol.16 (2), p.111-121

2016

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014

2020

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Joubert syndrome diagnosed renally late

Clinical kidney journal, 2021-03, Vol.14 (3), p.1017-1019

2021

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

American journal of human genetics, 2017-12, Vol.101 (6), p.1021-1033

2017

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Seeing the diagnosis on karyotype-SOX2 and eye development

Ophthalmic genetics, 2017-11, Vol.38 (6), p.580-583

2017

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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

American journal of human genetics, 2016-05, Vol.98 (5), p.981-992

2016

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Nature communications, 2023-02, Vol.14 (1), p.853-11, Article 853

2023

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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Human molecular genetics, 2020-07, Vol.29 (11), p.1900-1921

2020

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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

American journal of human genetics, 2024-09, Vol.111 (9), p.1970-1993

2024

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The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.652-659

2016

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Movement disorders, 2024-01, Vol.39 (1), p.141-151

2024

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Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

UK and US risk factors for hearing loss in neonatal intensive care unit infants

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark

Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing loss

Neurologic Presentation of Triple A Syndrome

17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

The phenotype of EZH2 haploinsufficiency—1.2‐Mb deletion at 7q36.1 in a child with tall stature and intellectual disability

Genomic medicine for the paediatrician

MO030: Familial clustering of a rare UMOD variant in undiagnosed hereditary nephropathy suggests the presence of a common ancestral founder mutation

When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Joubert syndrome diagnosed renally late

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Seeing the diagnosis on karyotype-SOX2 and eye development

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

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