Citation Impact
Citing Papers
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
2015 StandoutScienceNobel
Genetic Influences on Brain Gene Expression in Rats Selected for Tameness and Aggression
2014 StandoutNobel
Chromosome Abnormalities and Genetic Counseling
2011
Bone Morphogenetic Protein (BMP) signaling in development and human diseases
2014 Standout
Bone grafts and biomaterials substitutes for bone defect repair: A review
2017 Standout
Role of the normal gut microbiota
2015 Standout
Trinucleotide repeats: triggers for genomic disorders?
2010
Down syndrome and the complexity of genome dosage imbalance
2016
Uterine rudiments in patients with Mayer-Rokitansky-Küster-Hauser syndrome consist of typical uterine tissue types with predominantly basalis-like endometrium
2013
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
2015
Fracture healing: mechanisms and interventions
2014 Standout
Phosphorylation of ETS1 by Src Family Kinases Prevents Its Recognition by the COP1 Tumor Suppressor
2014 StandoutNobel
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
2015
RINGs of good and evil: RING finger ubiquitin ligases at the crossroads of tumour suppression and oncogenesis
2011
The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscle in C. elegans
2002 StandoutNobel
Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
2016 StandoutNatureNobel
Ageing as a risk factor for neurodegenerative disease
2019 Standout
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
Oxidative stress and the amyloid beta peptide in Alzheimer’s disease
2017 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
REPuter: the manifold applications of repeat analysis on a genomic scale
2001 Standout
Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction
2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
2011
Gut microbiota, the immune system, and diet influence the neonatal gut–brain axis
2014
FGFR3 targeting strategies for achondroplasia
2012
cGMP-Dependent Protein Kinases and cGMP Phosphodiesterases in Nitric Oxide and cGMP Action
2010 Standout
Clinical Application of Microarray-Based Molecular Cytogenetics: An Emerging New Era of Genomic Medicine
2009
Autistic-like behaviour in Scn1a+/− mice and rescue by enhanced GABA-mediated neurotransmission
2012 Nature
Role of FGFs/FGFRs in skeletal development and bone regeneration
2012
Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia
2012
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Duplication hotspots, rare genomic disorders, and common disease
2009
Stem cell models of Alzheimer’s disease: progress and challenges
2017
Long-Term Expansion of Functional Mouse and Human Hepatocytes as 3D Organoids
2018 StandoutNobel
Gene expression dysregulation domains are not a specific feature of Down syndrome
2019
Neurogenesis impairment: An early developmental defect in Down syndrome
2017
The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies
2013 Standout
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
2014
Genetic and epigenetic stability of human pluripotent stem cells
2012
Health Supervision for Children With Down Syndrome
2011 Standout
Natriuretic Peptides: Their Structures, Receptors, Physiologic Functions and Therapeutic Applications
2008
Down syndrome
2020 Standout
22q11.2 deletion syndrome
2015 Standout
A Genome-Wide Association Study of Neuroticism in a Population-Based Sample
2010
The Fibroblast Growth Factor signaling pathway
2015 Standout
Down Syndrome
2020 Standout
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice
2017
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification
2016 StandoutNobel
Evolutionary Comparison of the Mechanism of DNA Cleavage with Respect to Immune Diversity and Genomic Instability
2012 StandoutNobel
Copy Number Variation in Human Health, Disease, and Evolution
2009
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Clinical Utility of Contemporary Molecular Cytogenetics
2008
Works of Stefania Gimelli being referenced
Megacystis, megacolon, and malrotation: A new syndromic association?
2011
A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)
2010
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype
2008
2q24–q31 Deletion: Report of a case and review of the literature
2006
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies
2005
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
2007
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
2010
The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma
2009
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation
2007
A Teratocarcinoma-Like Human Embryonic Stem Cell (hESC) Line and Four hESC Lines Reveal Potentially Oncogenic Genomic Changes
2010
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
2010
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
2009
Characterization of a recurrent 15q24 microdeletion syndrome
2007
Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of theTCBA1gene
2005
Modelling and rescuing neurodevelopmental defect of D own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
2013