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One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology

EMBO molecular medicine, 2017-10, Vol.9 (10), p.1338-1345

2017

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Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

BMC genomics, 2011-05, Vol.12 (1), p.229-229, Article 229

2011

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Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

EMBO molecular medicine, 2016-04, Vol.8 (4), p.363-374

2016

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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

Human mutation, 2016-06, Vol.37 (6), p.516-523

2016

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NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

Nucleic acids research, 2024-05, Vol.52 (9), p.e44-e44

2024

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Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model

PloS one, 2018-03, Vol.13 (3), p.e0194476-e0194476

2018

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Extreme Downregulation of Chromosome Y and Cancer Risk in Men

JNCI : Journal of the National Cancer Institute, 2020-09, Vol.112 (9), p.913-920

2020

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DNA methylation abnormalities in congenital heart disease

Epigenetics, 2015, Vol.10 (2), p.167-177

2015

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Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

PLoS genetics, 2017-05, Vol.13 (5), p.e1006657-e1006657

2017

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Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family

Clinical genetics, 2021-11, Vol.100 (5), p.601-606

2021

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bigSCale: an analytical framework for big-scale single-cell data

Genome research, 2018-06, Vol.28 (6), p.878-890

2018

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Macrocheilia as an Atypical Clinical Presentation of Capillary Malformation-Arteriovenous Malformation Type 2

JAMA dermatology (Chicago, Ill.), 2024-04, Vol.160 (4), p.474

2024

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Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

EMBO molecular medicine, 2014-03, Vol.6 (3), p.299-306

2014

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Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

Molecular therapy, 2015-11, Vol.23 (11), p.1691-1699

2015

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Mutational Mechanisms of Williams-Beuren Syndrome Deletions

American journal of human genetics, 2003-07, Vol.73 (1), p.131-151

2003

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Genetic causes of proportionate short stature

Baillière's best practice & research. Clinical endocrinology & metabolism, 2018-08, Vol.32 (4), p.499-522

2018

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The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies

BMC genomics, 2015-05, Vol.16 (1), p.403, Article 403

2015

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A six-attribute classification of genetic mosaicism

Genetics in medicine, 2020-11, Vol.22 (11), p.1743-1757

2020

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Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

American journal of human genetics, 2010-07, Vol.87 (1), p.129-138

2010

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A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

BMC bioinformatics, 2011-05, Vol.12 (1), p.166-166, Article 166

2011

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Heterozygous rare genetic variants in non-syndromic early-onset obesity

International Journal of Obesity, 2020-04, Vol.44 (4), p.830-841

2020

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Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder

Human molecular genetics, 2014-12, Vol.23 (24), p.6481-6494

2014

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A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity

American journal of human genetics, 2014-03, Vol.94 (3), p.361-372

2014

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Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

Clinical genetics, 2020-03, Vol.97 (3), p.467-476

2020

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One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology

Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders

Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model

Extreme Downregulation of Chromosome Y and Cancer Risk in Men

DNA methylation abnormalities in congenital heart disease

Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants

Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family

bigSCale: an analytical framework for big-scale single-cell data

Macrocheilia as an Atypical Clinical Presentation of Capillary Malformation-Arteriovenous Malformation Type 2

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

Genetic causes of proportionate short stature

The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies

A six-attribute classification of genetic mosaicism

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data

Heterozygous rare genetic variants in non-syndromic early-onset obesity

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder

A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

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