Gary A. Bellus

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.

How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (1)

• The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
  2020 L1 No computation

1 assessed by us (0 reproduced) · 88 not yet assessed — every PubMed paper on record, linked below.

• De novo variants in KDM2A cause a syndromic neurodevelopmental disorder ↗

  The American Journal of Human Genetics · 2025 · PMID 41468891
  not yet assessed
• De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder ↗

  medRxiv · 2025 · PMID 40236430
  not yet assessed
• Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ↗

  2025
  not yet assessed
• Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ↗

  UNC Libraries · 2025
  not yet assessed
• De novo variants in DENND5B cause a neurodevelopmental disorder ↗

  The American Journal of Human Genetics · 2024 · PMID 38387458
  not yet assessed
• Phenotypic findings associated with variation in elastin ↗

  Human Genetics and Genomics Advances · 2024 · PMID 39604264
  not yet assessed
• Phenotypic Findings Associated with Variation in Elastin ↗

  medRxiv · 2024 · PMID 39314928
  not yet assessed
• Skeletal Dysplasias and Heritable Connective Tissue Disorders ↗

  Avery's Diseases of the Newborn · 2023
  not yet assessed
• Supplementary Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Supplementary Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Supplementary Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Supplementary Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Supplementary Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Supplementary Data from A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  2023
  not yet assessed
• Contributors ↗

  Avery's Diseases of the Newborn · 2023
  not yet assessed
• The different clinical facets of SYN1-related neurodevelopmental disorders ↗

  Frontiers in Cell and Developmental Biology · 2022 · PMID 36568968
  not yet assessed
• Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay ↗

  Cells · 2021 · PMID 34067418
  not yet assessed
• A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I ↗

  Cancer Prevention Research · 2021 · PMID 33431377
  not yet assessed
• Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i> ↗

  Molecular Case Studies · 2021 · PMID 34021018
  not yet assessed
• Automated syndrome diagnosis by three-dimensional facial imaging ↗

  Genetics in Medicine · 2020 · PMID 32475986
  not yet assessed
• Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer ↗

  Science Advances · 2020 · PMID 32010779
  not yet assessed
• Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis ↗

  Pediatric Dermatology · 2020 · PMID 32110831
  not yet assessed
• The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

  European Journal of Human Genetics · 2020 · PMID 32499600
  L1 No computation
• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation: HUMAN MUTATION ↗

  UNC Libraries · 2020
  not yet assessed
• Table 6. [Recommended Surveillance for Individuals with Hypochondroplasia].

  2020
  not yet assessed
• Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ↗

  Genetics in Medicine · 2018 · PMID 30190611
  not yet assessed
• Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation ↗

  Genetics in Medicine · 2018
  not yet assessed
• Skeletal Dysplasias and Heritable Connective Tissue Disorders ↗

  Avery's Diseases of the Newborn · 2018
  not yet assessed
• Contributors ↗

  Avery's Diseases of the Newborn · 2018
  not yet assessed
• Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Genome Medicine · 2017 · PMID 28934986
  not yet assessed
• Additional file 8: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 3: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 6: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 7: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 6: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 5: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 2: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 3: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 2: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 5: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 1: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 1: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 7: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 4: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• Additional file 4: of Identification of novel candidate disease genes from de novo exonic copy number variants ↗

  Figshare · 2017
  not yet assessed
• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation ↗

  Human Mutation · 2015 · PMID 26178382
  not yet assessed
• Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene <i>WDPCP</i> in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas ↗

  American Journal of Medical Genetics Part A · 2014 · PMID 25427950
  not yet assessed
• Table 1. [Summary of Molecular Genetic Testing Used in Hypochondroplasia].

  2013
  not yet assessed
• Table 2. [FGFR3 Pathogenic Variants that Cause Hypochondroplasia Discussed in This GeneReview].

  2013
  not yet assessed
• Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats ↗

  Human Mutation · 2011 · PMID 21948486
  not yet assessed
• Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females ↗

  Genetics in Medicine · 2011 · PMID 21293276
  not yet assessed
• Immunosuppression and sebaceous tumors: A confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy ↗

  Journal of the American Academy of Dermatology · 2011 · PMID 21550136
  not yet assessed
• Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21932317
  not yet assessed
• Identification of <i>SPRED1</i> deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21548021
  not yet assessed
• Male With Mosaicism for Supernumerary Ring X Chromosome ↗

  Journal of Craniofacial Surgery · 2010 · PMID 20856023
  not yet assessed
• On the spectrum of limb‐body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 17431896
  not yet assessed
• Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for <i>DTDST</i> mutation R279W ↗

  Journal of Medical Genetics · 2003 · PMID 12525546
  not yet assessed
• Genes, growth factors and acanthosis nigricans ↗

  British Journal of Dermatology · 2002 · PMID 12452857
  not yet assessed
• Mesomelic and rhizomelic short stature: The phenotype of combined Leri‐Weill dyschondrosteosis and achondroplasia or hypochondroplasia ↗

  American Journal of Medical Genetics Part A · 2002 · PMID 12476453
  not yet assessed
• Exclusion of Candidate Genes and Loci for Multiple Lentigines Syndrome ↗

  Journal of Investigative Dermatology · 2002 · PMID 12190883
  not yet assessed
• What Syndrome Is This? ↗

  Pediatric Dermatology · 2001 · PMID 11841646
  not yet assessed
• What Syndrome Is This? ↗

  Pediatric Dermatology · 2001 · PMID 11358561
  not yet assessed
• Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype ↗

  The American Journal of Human Genetics · 2000 · PMID 11055896
  not yet assessed
• The Pleiotropic Effects of Fibroblast Growth Factor Receptors in Mammalian Development. ↗

  Cell Structure and Function · 2000 · PMID 10885578
  not yet assessed
• A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene ↗

  The American Journal of Human Genetics · 1999 · PMID 10053006
  not yet assessed
• Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 ↗

  American Journal of Medical Genetics · 1999 · PMID 10377013
  not yet assessed
• Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3 ↗

  American Journal of Medical Genetics · 1999
  not yet assessed
• Prenatal diagnosis of FGFR3 mutations in thanatophoric dysplasia types I and II ↗

  Genetics in Medicine · 1999
  not yet assessed
• Keratinocytes ↗

  Birkhäuser Basel eBooks · 1999
  not yet assessed
• Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome ↗

  The American Journal of Human Genetics · 1998 · PMID 9718331
  not yet assessed
• Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia ↗

  The Journal of Pediatrics · 1998 · PMID 9580775
  not yet assessed
• Analysis of acanthosis nigricans due to a fibroblast growth factor receptor 3 (FGFR3) LYS-650-met mutation ↗

  Journal of Dermatological Science · 1998
  not yet assessed
• In this Issue ↗

  Journal of Investigative Dermatology · 1998
  not yet assessed
• A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. ↗

  PubMed · 1997 · PMID 9042914
  not yet assessed
• Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes ↗

  Nature Genetics · 1996 · PMID 8841188
  not yet assessed
• Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene ↗

  Annals of the New York Academy of Sciences · 1996 · PMID 8702125
  not yet assessed
• [4] In Organello mitochondrial protein and RNA synthesis systems from Saccharomyces cereuisiae ↗

  Methods in enzymology on CD-ROM/Methods in enzymology · 1996 · PMID 8965710
  not yet assessed
• Achondroplasia is defined by recurrent G380R mutations of FGFR3. ↗

  PubMed · 1995 · PMID 7847369
  not yet assessed
• A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia ↗

  Nature Genetics · 1995 · PMID 7670477
  not yet assessed
• Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. ↗

  PubMed · 1995 · PMID 7573032
  not yet assessed
• Confirmatory linkage of hypochondroplasia to chromosome arm 4p ↗

  American Journal of Medical Genetics · 1995 · PMID 7677163
  not yet assessed
• Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p ↗

  Human Molecular Genetics · 1994 · PMID 8081365
  not yet assessed
• First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia ↗

  The Lancet · 1994 · PMID 7968151
  not yet assessed
• Current status of mapping studies in achondroplasia ↗

  Matrix Biology · 1994
  not yet assessed
• Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. ↗

  Proceedings of the National Academy of Sciences · 1990 · PMID 2251268
  not yet assessed
• Biosynthesis of Mitochondrial Membrane Proteins ↗

  1982
  not yet assessed
• USE OF AN OPTIMIZED MITOCHONDRIAL PROTEIN SYNTHETIC SYSTEM TO CHARACTERIZE A PRECURSOR TO SUBUNIT II OF CYTOCHROME C OXIDASE ↗

  Elsevier eBooks · 1981
  not yet assessed