NancyJMendelsohnMD

PubMed

• 17 citations
  SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
  Valentina Serpieri, Fulvio D’Abrusco, Jennifer C. Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Bertini, Renato Borgatti, Angel...> ;Journal of Medical Genetics. 2021 Oct 21
• 9 citations
  Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
  Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, Ilenia Maini, Marzia Pollazzon, Simonetta Rosato, Gabriele Trimarchi, Anna Lauriello, Maria Marinelli, David...> ;American Journal of Medical Genetics. Part A. 2020 Dec 1
• 12 citations
  Genotype–phenotype correlation at codon 1740 of SETD2
  Rachel Rabin, Alireza Radmanesh, Ian A. Glass, William B. Dobyns, Kimberly A. Aldinger, Joseph T. Shieh, Shelby Romoser, Hannah Bombei, Leah Dowsett, Pamela Trapane, J...> ;American Journal of Medical Genetics. Part A. 2020 Jul 24
• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 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
• 43 citations
  Refining the phenotype associated with GNB1 mutations : Clinical data on 18 newly identified patients and review of the literature
  Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally A...> ;American Journal of Medical Genetics. Part A. 2018 Nov 1
• 44 citations
  A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
  Dinel A. Pond, Florence A. Arts, Nancy J. Mendelsohn, Jean-Baptiste Demoulin, Gunter Scharer, Yoav H. Messinger> ;Genetics in Medicine. 2018 Jan 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
• 113 citations
  Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
  Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
• 12 citations
  Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
  Can Ficicioglu, Roberto Giugliani, Paul Harmatz, Nancy J. Mendelsohn, Virginie Jego, Rossella Parini> ;American Journal of Medical Genetics. Part A. 2018 Feb 1
• 12 citations
  Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
  Roberto Giugliani, Paul Harmatz, Simon Jones, Nancy J. Mendelsohn, Ashok Vellodi, Yongchang Qiu, Christian J. Hendriksz, Suresh Vijayaraghavan, David A.H. Whiteman, Ar...> ;Molecular Genetics and Metabolism Reports. 2017 Sep 1
• 42 citations
  Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
  Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier, Troxler Rb, Raymond Y. Wang, Omar A. Abdul-Rahman, Pranoot Tanpaiboon, Nancy J. Mendelsohn, Herskovitz E, David Kron...> ;JCI Insight. 2017 Aug 17
• 39 citations
  Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
  Joseph Muenzer, Simon Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael B...> ;Orphanet Journal of Rare Diseases. 2017 May 2
• 5 citations
  Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
  Mary Ella M Pierpont, Mary Richards, W. Keith Engel, Nancy J. Mendelsohn, C. Gail Summers> ;American Journal of Medical Genetics. Part A. 2017 Mar 23
• 15 citations
  Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2‐encoded TGF‐beta Activated Kinase 1 ...
  Jaeger P. Ackerman, John A. Smestad, David J. Tester, Muhammad Yasir Qureshi, Beau A. Crabb, Nancy J. Mendelsohn, Michael J. Ackerman> ;Congenital Heart Disease. 2016 Sep 1
• 46 citations
  Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
  Hui Yu, Victor Wei Zhang, Asbjørg Stray-Pedersen, Imelda C. Hanson, Lisa R. Forbes, M. Teresa de la Morena, Ivan K. Chinn, Elizabeth Gorman, Nancy J. Mendelsohn, Tamar...> ;The Journal of Allergy and Clinical Immunology. 2016 Oct 1
• 37 citations
  Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
  Kimberly A. Aldinger, Nancy J. Mendelsohn, Brian H.Y. Chung, Wenjuan Zhang, Daniel H. Cohn, Bridget A. Fernandez, Fowzan S. Alkuraya, William B. Dobyns, Cynthia J. Curry> ;Journal of Medical Genetics. 2016 Jun 1
• Erratum to: The Long and Short of Genetic Counseling Letters: A Case-control Study.
  Jennifer Roggenbuck, Renee Temme, D. Pond, J. Baker, K. Jarvis, M. Liu, S. Dugan, Nancy J. Mendelsohn> ;Journal of Genetic Counseling. 2016 Feb 1
• 66 citations
  POGZ truncating alleles cause syndromic intellectual disability.
  Janson White, Christine R. Beck, Tamar Harel, Jennifer E. Posey, Shalini N. Jhangiani, Sha Tang, Kelly D. Farwell, Zöe Powis, Nancy J. Mendelsohn, Janice Baker, Lynda ...> ;Genome Medicine. 2016 Jan 6
• 38 citations
  MKS1 regulates ciliary INPP5E levels in Joubert syndrome
  , , , , , , , , , , , , , , , , , , , , , , , , , > ;Journal of Medical Genetics. 2016 Jan 1
• 14 citations
  The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.
  Jennifer Roggenbuck, Renee Temme, D. Pond, J. Baker, K. Jarvis, M. Liu, S. Dugan, Nancy J. Mendelsohn> ;Journal of Genetic Counseling. 2015 Aug 1
• 6 citations
  Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)
  Yew Sing Choy, Kaustuv Bhattacharya, Shanti Balasubramaniam, Michael Fietz, Antony Fu, Anita Inwood, Dong-Kyu Jin, Ok Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Hsiang...> ;Molecular Genetics and Metabolism. 2015 May 1
• 17 citations
  Overcoming the barriers to diagnosis of Morquio A syndrome
  Kaustuv Bhattacharya, Shanti Balasubramaniam, Yew Sing Choy, Michael Fietz, Antony Fu, Dong Kyu Jin, Ok Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Anita Inwood, Hsiang...> ;Orphanet Journal of Rare Diseases. 2014 Nov 30
• 21 citations
  Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy
  S. Grace Prakalapakorn, Alan D. Proia, Tammy L. Yanovitch, Stephanie DeArmey, Nancy J. Mendelsohn, Kyrieckos A Aleck, Priya S. Kishnani> ;Journal of Pediatric Ophthalmology and Strabismus. 2014 Aug 20
• 41 citations
  Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
  Christina Lampe, Ann Kathrin Bosserhoff, Barbara K. Burton, Roberto Giugliani, Carolina Fischinger Moura de Souza, Camila Matzenbacher Bittar, Nicole Muschol, Rebecca ...> ;Journal of Inherited Metabolic Disease. 2014 Mar 5
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Journal Articles

• Refining the Phenotype Associated with GNB1 Mutations: Clinical Data on 18 Newly Identified Patients and Review of the Literature  
  Vinodh Narayanan, Nancy J Mendelsohn, Ana Bircher, Tristan T Sands, Alejandro Iglesias, American Journal of Medical Genetics Part A
• 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  
  Rachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature