| # | Title | Journal | Year | Citations |
|---|
| 1 | A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB | EMBO Journal | 2012 | 1,507 |
| 2 | Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits | Trends in Genetics | 1998 | 817 |
| 3 | Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes | PLoS Genetics | 2005 | 496 |
| 4 | Towards a therapy for Angelman syndrome by targeting a long non-coding RNA | Nature | 2015 | 423 |
| 5 | MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS | Annual Review of Genetics | 2000 | 325 |
| 6 | mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases | Nature Communications | 2017 | 318 |
| 7 | Complex human chromosomal and genomic rearrangements | Trends in Genetics | 2009 | 239 |
| 8 | Parental reports on the use of treatments and therapies for children with autism spectrum disorders | Research in Autism Spectrum Disorders | 2007 | 192 |
| 9 | Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines | Pediatrics | 2014 | 148 |
| 10 | Genome Mosaicism—One Human, Multiple Genomes | Science | 2013 | 143 |
| 11 | Lysosome signaling controls the migration of dendritic cells | Science Immunology | 2017 | 119 |
| 12 | Dyskeratosis congenita as a disorder of telomere maintenance | Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis | 2012 | 116 |
| 13 | Angelman syndrome: Mutations influence features in early childhood | American Journal of Medical Genetics, Part A | 2011 | 109 |
| 14 | COP9 Signalosome Subunit 3 Is Essential for Maintenance of Cell Proliferation in the Mouse Embryonic Epiblast | Molecular and Cellular Biology | 2003 | 107 |
| 15 | Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells | Scientific Reports | 2015 | 105 |
| 16 | Genomic disorders 20 years on—mechanisms for clinical manifestations | Clinical Genetics | 2018 | 102 |
| 17 | Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome | European Journal of Human Genetics | 2010 | 99 |
| 18 | Lysosome biogenesis in health and disease | Journal of Neurochemistry | 2019 | 97 |
| 19 | State of the art review in gonadal dysgenesis: challenges in diagnosis and management | International Journal of Pediatric Endocrinology (Springer) | 2014 | 94 |
| 20 | 2-Hydroxypropyl-β-cyclodextrin Promotes Transcription Factor EB-mediated Activation of Autophagy | Journal of Biological Chemistry | 2014 | 92 |
| 21 | Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern | Human Mutation | 2016 | 92 |
| 22 | Mapping Drosophila mutations with molecularly defined P element insertions | Proceedings of the National Academy of Sciences of the United States of America | 2003 | 89 |
| 23 | Osteogenesis imperfecta: advancements in genetics and treatment | Current Opinion in Pediatrics | 2019 | 84 |
| 24 | Citrin Deficiency: A Novel Cause of Failure to Thrive That Responds to a High-Protein, Low-Carbohydrate Diet | Pediatrics | 2007 | 81 |
| 25 | CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis | Nature Cell Biology | 2018 | 80 |
| 26 | CNS Langerhans cell histiocytosis: Common hematopoietic origin for LCH‐associated neurodegeneration and mass lesions | Cancer | 2018 | 73 |
| 27 | Fragile X-like behaviors and abnormal cortical dendritic spines in Cytoplasmic FMR1-interacting protein 2-mutant mice | Human Molecular Genetics | 2015 | 66 |
| 28 | Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2) | Genetics in Medicine | 2002 | 59 |
| 29 | Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy | Pediatric Blood and Cancer | 2011 | 59 |
| 30 | A potential founder variant inCARMIL2/RLTPRin three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction | Molecular Genetics & Genomic Medicine | 2016 | 59 |
| 31 | Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing | Current Opinion in Pediatrics | 2016 | 59 |
| 32 | Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation | Human Mutation | 2017 | 58 |
| 33 | The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype–phenotype correlations | Autism Research | 2009 | 57 |
| 34 | Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs | American Journal of Medical Genetics, Part A | 2016 | 56 |
| 35 | Inherited Metabolic Disorders | Nutrition in Clinical Practice | 2015 | 53 |
| 36 | Novel EED mutation in patient with Weaver syndrome | American Journal of Medical Genetics, Part A | 2017 | 52 |
| 37 | Loss of Sin3/Rpd3 Histone Deacetylase Restores the DNA Damage Response in Checkpoint-Deficient Strains of Saccharomyces cerevisiae | Molecular and Cellular Biology | 2003 | 51 |
| 38 | The Molecular Basis of Vascular Disorders | American Journal of Human Genetics | 1999 | 49 |
| 39 | Identification of Novel Mutations ConfirmsPde4das a Major Gene Causing Acrodysostosis | Human Mutation | 2013 | 49 |
| 40 | Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome | American Journal of Medical Genetics, Part A | 2015 | 47 |
| 41 | The Cytosolic Protein G0S2 Maintains Quiescence in Hematopoietic Stem Cells | PLoS ONE | 2012 | 46 |
| 42 | Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy | Journal of Neuroscience | 2016 | 44 |
| 43 | Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome | Clinical Genetics | 2004 | 43 |
| 44 | Mutations in ASH1L confer susceptibility to Tourette syndrome | Molecular Psychiatry | 2020 | 41 |
| 45 | Charcot-Marie-Tooth Polyneuropathy: Duplication, Gene Dosage, and Genetic Heterogeneity | Pediatric Research | 1999 | 41 |
| 46 | Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty | Genes, Brain and Behavior | 2017 | 39 |
| 47 | AKT modulates the autophagy-lysosome pathway via TFEB | Cell Cycle | 2017 | 38 |
| 48 | Newborn Screening | Pediatric Clinics of North America | 2018 | 38 |
| 49 | Lysosomes and Brain Health | Annual Review of Neuroscience | 2018 | 37 |
| 50 | Aminode: Identification of Evolutionary Constraints in the Human Proteome | Scientific Reports | 2018 | 35 |
