Gary ABellusMD

PubMed

• De novo variants in DENND5B cause a neurodevelopmental disorder.
  Al Saif, H., Sanchez Russo, R. L., Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S Cohen, Ali Fatemi, Elly Brokamp, Anna Bican, John A Phillips...> ;American Journal of Human Genetics. 2024 Mar 7
• 4 citations
  The different clinical facets of-related neurodevelopmental disorders.
  Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran...> ;Frontiers in Cell and Developmental Biology. 2022 Jan 1
• 6 citations
  Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay
  Anke Vermehren-Schmaedick, Jeffrey Y. Huang, Madison Levinson, Matthew B. Pomaville, Sarah Reed, Gary A Bellus, Fred Gilbert, Boris Keren, Delphine Héron, Damien Haye,...> ;Cells. 2021 May 22
• 8 citations
  Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1.
  Madison Garrity, Marta Rojas-Vasquez, Irene Valenzuela, Austin Larson, Sara Reed, Gary A. Bellus, Cyril Mignot, Arnold Munnich, Bertrand Isidor, Wendy K. Chung, Haluk ...> ;Cold Spring Harbor Molecular Case Studies. 2021 May 21
• A Retrospective Chart Review of Children in Neurocutaneous Clinic Who May Benefit from Further Evaluation Beyond Neurofibromatosis Type I
  Stephanie R. Hicks, Amanda K. Cozart, Gary A. Bellus, Kami Wolfe Schneider> ;Cancer Prevention Research. 2021 Jan 11
• 5 citations
  The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
  Karen W. Gripp, Laura A. Baker, Katherine M. Robbins, Deborah L. Stabley, Gary A. Bellus, Verena Kolbe, Theresa Nauth, Georg Rosenberger> ;European Journal of Human Genetics. 2020 Jun 4
• 35 citations
  Automated syndrome diagnosis by three-dimensional facial imaging.
  Benedikt Hallgrímsson, J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan, Brenda McInnes, Tracey M. Ferrara, Danika M. Lipman, Ama...> ;Genetics in Medicine. 2020 Jun 1
• 7 citations
  Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis
  Amanda Krenitsky, Audrey Dean, Christina M DiCarlo, Gary A Bellus, Eric W. Hossler> ;Pediatric Dermatology. 2020 Feb 28
• 48 citations
  Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
  Kezhi Yan, Justine Rousseau, Keren Machol, Laura A Cross, Katherine Agre, Cynthia Forster Gibson, Anne Goverde, Kendra Engleman, Hannah Verdin, Elfride De Baere, Lorra...> ;Science Advances. 2020 Jan 22
• 20 citations
  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.
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
• Correction to: 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 correlat...
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
• 45 citations
  Identification of novel candidate disease genes from de novo exonic copy number variants
  Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren De...> ;Genome Medicine. 2017 Sep 21
• 119 citations
  High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
  Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan E. Cochran, Mary Alice Abbott, Joan F. Atkin, Dusica Babovic-Vuk...> ;Human Mutation. 2015 Nov 1
• 20 citations
  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 polysynd...
  Jonathan Saari, Mark A. Lovell, Hung-Chun Yu, Gary Bellus> ;American Journal of Medical Genetics. Part A. 2015 Feb 1
• 39 citations
  Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
  Pawel Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Ma...> ;Human Mutation. 2012 Jan 1
• 21 citations
  Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy.
  Megan N. Landis, Carrie L. Davis, Gary A. Bellus, Stephen E. Wolverton> ;Journal of the American Academy of Dermatology. 2011 Nov 1
• 15 citations
  Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR
  Emily Spencer, Julia Davis, Fady M. Mikhail, Chuanhua Fu, Raymon Vijzelaar, Elaine H. Zackai, Holly Feret, M. Stephen Meyn, Andrea Shugar, Gary A. Bellus, Kristina Koc...> ;American Journal of Medical Genetics. Part A. 2011 Jun 1
• 40 citations
  Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
  Magdalena Bartnik, Katarzyna Derwińska, Monika Gos, Ewa Obersztyn, Katarzyna E. Kolodziejska, Ayelet Erez, Agnieszka Szpecht-Potocka, Ping Fang, Iwona Terczyńska, Hann...> ;Genetics in Medicine. 2011 May 1
• 8 citations
  Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.
  Peter R. Baker, Anne Chun Hui Tsai, Michelle A. Springer, Karen Swisshelm, Jennifer March, Kathleen Brown, Gary Bellus> ;The Journal of Craniofacial Surgery. 2010 Sep 1
• 10 citations
  Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.
  Judith L. Ross, Gary Bellus, Charles I. Scott, Jack Abboudi, Giedre Grigelioniene, Andrew R. Zinn> ;American Journal of Medical Genetics. Part A. 2003 Jan 1
• 4 citations
  Exclusion of candidate genes and loci for multiple lentigines syndrome.
  Theresa R. Pacheco, Nicole M. Oreskovich, Gary A. Bellus, Janet Talbert, William M. Old, Pamela R. Fain> ;The Journal of Investigative Dermatology. 2002 Aug 1
• 122 citations
  Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
  Gary Bellus, Elaine B. Spector, Phyllis W. Speiser, Christine A. Weaver, Anthony T. Garber, Christine R. Bryke, Jamie Israel, Sally Rosengren, Melanie K. Webster, Dani...> ;American Journal of Human Genetics. 2000 Dec 1
• 5 citations
  Achondroplasia and nail-patella syndrome: the compound phenotype
  M J Wright, Michael C. Ain, M V Clough, Gary A. Bellus, Orest Hurko, Iain McIntosh> ;Journal of Medical Genetics. 2000 Sep 1
• 57 citations
  The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
  Iain McIntosh, Gary A. Bellus, Ethylin Wang Jabs> ;Cell Structure and Function. 2000 Feb 1
• 78 citations
  Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fib...
  Gary A. Bellus, Michael J. Bamshad, Kelly A. Przylepa, John P. Dorst, Roland R. Lee, Orest Hurko, Ethylin Wang Jabs, Cynthia J. Curry, William R. Wilcox, Ralph S. Lach...> ;American Journal of Medical Genetics. 1999 Jul 2
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