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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome

European journal of human genetics : EJHG, 2010-11, Vol.18 (11), p.1196-1201

2010

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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

American journal of human genetics, 2014-11, Vol.95 (5), p.579-583

2014

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

Nature genetics, 2003-07, Vol.34 (3), p.308-312

2003

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Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

Human molecular genetics, 2012-07, Vol.21 (13), p.3001-3012

2012

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Mutations in ELA2 , encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis

Nature genetics, 1999-12, Vol.23 (4), p.433-436

1999

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Epigenetic Regulation of Protein-Coding and MicroRNA Genes by the Gfi1-Interacting Tumor Suppressor PRDM5

Molecular and Cellular Biology, 2007-10, Vol.27 (19), p.6889-6902

2007

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Molecular diagnostic experience of whole-exome sequencing in adult patients

Genetics in medicine, 2016-07, Vol.18 (7), p.678-685

2016

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Monogenic variants in dystonia: an exome-wide sequencing study

Lancet neurology, 2020-11, Vol.19 (11), p.908-918

2020

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Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase

Molecular and Cellular Biology, 2009-08, Vol.29 (16), p.4394-4405

2009

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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

Brain (London, England : 1878), 2021-08, Vol.144 (7), p.2092-2106

2021

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Nature genetics, 2008-06, Vol.40 (6), p.719-721

2008

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature genetics, 2021-07, Vol.53 (7), p.1006-1021

2021

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807

2019

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

American journal of human genetics, 2020-04, Vol.106 (4), p.484-495

2020

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.76-87

2020

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POGZ truncating alleles cause syndromic intellectual disability

Genome medicine, 2016-01, Vol.8 (1), p.3, Article 3

2016

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common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Proceedings of the National Academy of Sciences - PNAS, 2012-05, Vol.109 (21), p.7974-7981

2012

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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological

Human mutation, 2010-07, Vol.31 (7), p.840-850

2010

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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Genetics in medicine, 2021-02, Vol.23 (2), p.384-395

2021

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Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

Nature genetics, 2003-09, Vol.35 (1), p.90-96

2003

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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Human molecular genetics, 2012-08, Vol.21 (15), p.3345-3355

2012

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Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Neurology. Genetics, 2019-04, Vol.5 (2), p.e565-e565

2019

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Hereditary neutropenia: dogs explain human neutrophil elastase mutations

Trends in molecular medicine, 2004-04, Vol.10 (4), p.163-170

2004

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Involvement of Mitochondria and Other Free Radical Sources in Normal and Abnormal Fetal Development

Annals of the New York Academy of Sciences, 2002-04, Vol.959 (1), p.424-433

2002

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Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

Mutations in ELA2 , encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis

Epigenetic Regulation of Protein-Coding and MicroRNA Genes by the Gfi1-Interacting Tumor Suppressor PRDM5

Molecular diagnostic experience of whole-exome sequencing in adult patients

Monogenic variants in dystonia: an exome-wide sequencing study

Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

POGZ truncating alleles cause syndromic intellectual disability

common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Hereditary neutropenia: dogs explain human neutrophil elastase mutations

Involvement of Mitochondria and Other Free Radical Sources in Normal and Abnormal Fetal Development

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