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The shortest of the short: Pericentrin mutations and beyond

Best Practice & Research Clinical Endocrinology & Metabolism, 2011-02, Vol.25 (1), p.125-130

Rauch, Anita, Dr. Med

2011

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Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

Cell, 2008-10, Vol.135 (1), p.37-48

2008

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Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

American journal of human genetics, 2012-03, Vol.90 (3), p.565-572

2012

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De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

American journal of human genetics, 2013-07, Vol.93 (1), p.124-131

2013

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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

American journal of human genetics, 2009-11, Vol.85 (5), p.655-666

2009

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

PloS one, 2017-05, Vol.12 (5), p.e0176363-e0176363

2017

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Molecular medicine (Cambridge, Mass.), 2019-02, Vol.25 (1), p.6-6, Article 6

2019

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

American journal of human genetics, 2020-12, Vol.107 (6), p.1044-1061

2020

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Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

American journal of human genetics, 2007-03, Vol.80 (3), p.510-517

2007

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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

American journal of human genetics, 2011-01, Vol.88 (1), p.106-114

2011

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The clinical significance of small copy number variants in neurodevelopmental disorders

Journal of medical genetics, 2014-10, Vol.51 (10), p.677-688

2014

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Rare copy number variants are a common cause of short stature

PLoS genetics, 2013-03, Vol.9 (3), p.e1003365-e1003365

2013

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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Human mutation, 2010-06, Vol.31 (6), p.722-733

2010

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The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum

Best Practice & Research Clinical Endocrinology & Metabolism, 2011-02, Vol.25 (1), p.131-142

2011

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Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in

Stem cell research, 2021-10, Vol.56, p.102520-102520, Article 102520

2021

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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1100-1104

2013

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Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

The Journal of cell biology, 2009-06, Vol.185 (7), p.1149-1157

2009

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.392-402

2016

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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

Molecular genetics & genomic medicine, 2023-05, Vol.11 (5), p.e2148-n/a

2023

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High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

BMC medical genomics, 2017-11, Vol.10 (1), p.68-68, Article 68

2017

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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

BMC medical genetics, 2011-08, Vol.12 (1), p.106-106, Article 106

2011

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SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

Journal of personalized medicine, 2024-06, Vol.14 (6), p.648

2024

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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.733-741

2016

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The shortest of the short: Pericentrin mutations and beyond

Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

The clinical significance of small copy number variants in neurodevelopmental disorders

Rare copy number variants are a common cause of short stature

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

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