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Increased LIS1 expression affects human and mouse brain development

Nature Genetics, 2009-02, Vol.41 (2), p.168-177

2009

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MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.300-303

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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An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ()

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.2041-2043

2018

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Nature communications, 2023-08, Vol.14 (1), p.5269-5269, Article 5269

2023

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Human mutation, 2020-03, Vol.41 (3), p.641-654

2020

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

American journal of human genetics, 2021-04, Vol.108 (4), p.749-756

2021

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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Human genetics, 2024-06, Vol.143 (6), p.761-773

2024

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Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs

Prenatal diagnosis, 2016-09, Vol.36 (9), p.891-893

2016

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A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

American journal of medical genetics. Part A, 2005-09, Vol.137A (3), p.283-287

2005

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Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis

Prenatal diagnosis, 2013-11, Vol.33 (11), p.1039-1043

2013

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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

American journal of medical genetics. Part A, 2012-03, Vol.158A (3), p.553-558

2012

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Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1661-1669

2010

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Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.657-664

2010

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13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion

Clinical neurophysiology, 2011, Vol.122 (1), p.e5-e6

2011

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

The New England journal of medicine, 2012-10, Vol.367 (14), p.1321-1331

2012

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Corrigendum to "Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome" Am J Med Genet 152A: 1661-1669

American journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.1215-1215

2011

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Characterizing the oculoauriculofrontonasal syndrome

Clinical dysmorphology, 2008-04, Vol.17 (2), p.79-85

2008

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Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

Clinical dysmorphology, 2007-01, Vol.16 (1), p.9-13

2007

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7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features

Clinical neurophysiology, 2009, Vol.120 (8), p.e182-e183

2009

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MG-104 Fetal jugular lymph sacs – what is the significance?: Abstract MG-104 Table 1

Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A2-A2

2015

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MG-104 Fetal jugular lymph sacs – what is the significance?

Journal of medical genetics, 2015-11, Vol.52 (Suppl 2), p.A2

2015

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Cenani-Lenz syndrome: report of a new case and review of the literature

Clinical dysmorphology, 2002-07, Vol.11 (3), p.215-218

2002

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Novel mutation in the Δ-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

American journal of medical genetics, 2002-06, Vol.110 (2), p.103-108

2002

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Increased LIS1 expression affects human and mouse brain development

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low‐level mosaicism in an unaffected parent

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

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ()

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome

The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs

A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Corrigendum to "Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome" Am J Med Genet 152A: 1661-1669

Characterizing the oculoauriculofrontonasal syndrome

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features

MG-104 Fetal jugular lymph sacs – what is the significance?: Abstract MG-104 Table 1

MG-104 Fetal jugular lymph sacs – what is the significance?

Cenani-Lenz syndrome: report of a new case and review of the literature

Novel mutation in the Δ-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

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