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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1384-1395

2021

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Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

American journal of medical genetics. Part A, 2011-03, Vol.155A (3), p.508-518

2011

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Extreme phenotypes of Loeys Dietz syndrome

Clinical dysmorphology, 2017-04, Vol.26 (2), p.91-94

2017

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Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1430-1433

2023

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Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

European journal of medical genetics, 2020-02, Vol.63 (2), p.103657-103657, Article 103657

2020

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KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Genetics in medicine, 2019-04, Vol.21 (4), p.850-860

2019

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SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1447-1458

2023

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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.658-681

2019

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Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

Archives of disease in childhood, 2020-04, Vol.105 (4), p.384-389

2020

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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210

2021

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.120-120, Article 120

2018

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Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2389-2396

2022

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Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c. 5395G > A p.( Glu1799Lys ) missense variant

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2445-2454

2021

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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in medicine, 2022-01, Vol.24 (1), p.179-191

2022

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Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2445-2454

2021

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Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

European journal of medical genetics, 2019-01, Vol.62 (1), p.27-34

2019

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203 ELN Gene: UKGTN Service for SVAS and Cutis Laxa. Copy Number Variants (CNVS) Are a Common Cause of Disease

Heart (British Cardiac Society), 2016-06, Vol.102 (Suppl 6), p.A135-A136

2016

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Clinical utility gene card for: Cantú syndrome

European journal of human genetics : EJHG, 2017-04, Vol.25 (4), p.512-512

2017

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Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Genetics in medicine, 2020-11, Vol.22 (11), p.1920-1920

2020

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KAT6A Syndrome: genotype–phenotype correlation in 76 patientswith pathogenic KAT6A variants

Genetics in medicine, 2019-04, Vol.21 (4), p.850-860

2019

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Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester

Clinical dysmorphology, 2017-04, Vol.26 (2), p.107-109

2017

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies

Dominant missense mutations in ABCC9 cause Cantú syndrome

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

Extreme phenotypes of Loeys Dietz syndrome

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

Co‐occurrence of Proteus syndrome and ventricular tachycardia cardiac arrest in a teenager

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c. 5395G > A p.( Glu1799Lys ) missense variant

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

203 ELN Gene: UKGTN Service for SVAS and Cutis Laxa. Copy Number Variants (CNVS) Are a Common Cause of Disease

Clinical utility gene card for: Cantú syndrome

Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

KAT6A Syndrome: genotype–phenotype correlation in 76 patientswith pathogenic KAT6A variants

Rare XXY/XX mosaicism in a phenotypic male presenting as cystic hygroma in the first trimester

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