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Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model

Clinical genetics, 2022-12, Vol.102 (6), p.494-502

2022

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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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The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.557-564

2019

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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3006-3010

2015

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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

Metabolism, clinical and experimental, 2017-06, Vol.71, p.213-225

2017

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

American journal of human genetics, 2022-04, Vol.109 (4), p.750-758

2022

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Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2

Hepatology (Baltimore, Md.), 2015-07, Vol.62 (1), p.198-206

2015

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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

BMC medical genomics, 2021-06, Vol.14 (1), p.148-148, Article 148

2021

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Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias

Reproductive biology and endocrinology, 2007-03, Vol.5 (1), p.8-8, Article 8

2007

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Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias

European journal of endocrinology, 2008-05, Vol.158 (5), p.729

2008

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FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

European journal of human genetics : EJHG, 2007-04, Vol.15 (4), p.405-410

2007

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Risk Factors for Hypospadias in the Estrogen Receptor 2 Gene

The journal of clinical endocrinology and metabolism, 2007-09, Vol.92 (9), p.3712-3718

2007

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Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism

American journal of medical genetics. Part A, 2013-03, Vol.161 (3), p.589-593

2013

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Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

Journal of Medical Genetics, 2014-10, Vol.51 (10), p.635-645

2014

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Polymorphisms of estrogen receptor beta gene are associated with hypospadias

Journal of pediatric urology, 2007, Vol.3, p.S48-S48

2007

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De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

American journal of human genetics, 2022-10, Vol.109 (10), p.1932-1943

2022

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Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene

Scientia medica, 2013, Vol.23 (1)

2013

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Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

Nature communications, 2021-05, Vol.12 (1), p.2444-21, Article 2444

2021

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Complex aetiology of an apparently Mendelian form of mental retardation

BMC medical genetics, 2008-02, Vol.9 (1), p.6-6, Article 6

2008

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47 patients with FLNA associated periventricular nodular heterotopia

Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.134-134, Article 134

2015

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Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model

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

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias

Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

Risk Factors for Hypospadias in the Estrogen Receptor 2 Gene

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

Polymorphisms of estrogen receptor beta gene are associated with hypospadias

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

Complex aetiology of an apparently Mendelian form of mental retardation

47 patients with FLNA associated periventricular nodular heterotopia

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

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