G. Bellus

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

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

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Genes, growth factors and acanthosis nigricans

G. Bellus, C. Munro, D. Torley, 2002, The British journal of dermatology.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

S. Rosengren, D. Donoghue, G. Bellus, 2000, American journal of human genetics.

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

I. Kaitila, A. Aylsworth, G. Bellus, 1995, Nature Genetics.

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

B. Hamel, G. Bellus, W. Cole, 2003, Journal of medical genetics.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

D. Donoghue, M. Bamshad, E. Jabs, 1999, American journal of human genetics.

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.

A. Hamosh, M. Johnston, S. Rasmussen, 1998, The Journal of pediatrics.

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

K. Gripp, G. Bellus, G. Rosenberger, 2020, European Journal of Human Genetics.

Skeletal Dysplasias and Heritable Connective Tissue Disorders

G. Bellus, G. Tiller, 2018 .

mutation R 279 W DTDST homozygotes for ( rMED ) : phenotype delineation in eighteen Recessive multiple epiphyseal dysplasia

B. Hamel, G. Bellus, W. Cole, 2002 .

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

E. Haan, R. Markowitz, A. Guttmacher, 1997, American journal of human genetics.

Confirmatory linkage of hypochondroplasia to chromosome arm 4p.

S. Blanton, G. Bellus, J. Hecht, 1995, American journal of medical genetics.

What Syndrome Is This?

G. Bellus, W. Weston, J. Morelli, 2001, Pediatric dermatology.

Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy.

G. Bellus, S. Wolverton, M. Landis, 2011, Journal of the American Academy of Dermatology.

Automated syndrome diagnosis by three-dimensional facial imaging

David C. Katz, Jordan J. Bannister, Jacinda R. Larson, 2020, Genetics in Medicine.

The different clinical facets of SYN1-related neurodevelopmental disorders

F. Benfenati, P. Striano, L. Mazzola, 2022, Frontiers in Cell and Developmental Biology.

The pleiotropic effects of fibroblast growth factor receptors in mammalian development.

E. Jabs, G. Bellus, I. Mcintosh, 2000, Cell structure and function.

Mesomelic and rhizomelic short stature: The phenotype of combined Leri‐Weill dyschondrosteosis and achondroplasia or hypochondroplasia

A. Zinn, G. Bellus, J. Ross, 2003, American Journal of Medical Genetics. Part A.

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

I. Kaitila, T. Hefferon, G. Bellus, 1995, American journal of human genetics.

Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis

G. Bellus, E. Hossler, Christina DiCarlo, 2020, Pediatric dermatology.

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

Zhifang, G. Bellus, N. Gregersen, 1990, Proceedings of the National Academy of Sciences of the United States of America.

On the spectrum of limb‐body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence

D. Weaver, G. Bellus, P. Faught, 2007, American journal of medical genetics. Part A.

What Syndrome Is This?

G. Bellus, Y. Tay, W. Weston, 2001, Pediatric dermatology.

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas

M. Lovell, G. Bellus, Hung-Chun Yu, 2015, American journal of medical genetics. Part A.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

P. Stankiewicz, S. Cheung, E. Obersztyn, 2011, Genetics in Medicine.

Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR

E. Zackai, M. Meyn, L. Messiaen, 2011, American journal of medical genetics. Part A.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

E. Zackai, M. Muenke, G. Bellus, 1996, Nature Genetics.

Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

E. Jabs, G. Bellus, W. Park, 1995, American journal of human genetics.

A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I

G. Bellus, Stephanie R. Hicks, K. Schneider, 2021, Cancer Prevention Research.

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

D. Meyers, S. Blanton, J. Murray, 1994, Human molecular genetics.

Biosynthesis of Mitochondrial Membrane Proteins

R. O. Poyton, G. Bellus, A. Kerner, 1982 .

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

W. Chung, A. Munnich, G. Bellus, 2021, Cold Spring Harbor molecular case studies.

Exclusion of candidate genes and loci for multiple lentigines syndrome.

P. Fain, G. Bellus, Janet L. Talbert, 2002, The Journal of investigative dermatology.

Real-Time , In Vivo Quanti ® cation of Melanocytes by Near-Infrared Re ̄ ectance Confocal Microscopy in the Guinea Pig Animal Model

P. Fain, G. Bellus, Janet L. Talbert, 2022 .

Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx

G. Bellus, A. Tsai, M. Handler, 2011, American journal of medical genetics. Part A.

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.

M. Bamshad, E. Jabs, J. Dorst, 1999, American journal of medical genetics.

Male With Mosaicism for Supernumerary Ring X Chromosome: Analysis of Phenotype and Characterization of Genotype Using Array Comparative Genome Hybridization

G. Bellus, A. Tsai, K. Swisshelm, 2010, The Journal of craniofacial surgery.

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

A. Munnich, I. Kaitila, B. Sykes, 1998, American journal of human genetics.

Achondroplasia and nail-patella syndrome: the compound phenotype

G. Bellus, O. Hurko, M. J. Wright, 2000, Journal of medical genetics.

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay

Michael S. Cohen, T. Haack, G. Bellus, 2021, Cells.

In organello mitochondrial protein and RNA synthesis systems from Saccharomyces cerevisiae.

R. O. Poyton, G. Bellus, K. Sevarino, 1996, Methods in enzymology.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

K. Blakemore, G. Bellus, C. Francomano, 1994, The Lancet.

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

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

B. Hamel, G. Bellus, W. Cole, 2003, Journal of medical genetics.