NewellDonBelnapPA

PubMed

• Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
  Ramsey K, Belnap N, Bonfitto A, Jepsen W, Naymik M, Sanchez-Castillo M, Craig DW, Szelinger S, Huentelman MJ, Narayanan V, Rangasamy S> ;Molecular genetics & genomic medicine. 2022-01-07
• Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant
  Brianna Pandey, Newell Belnap, Christopher Balak, Matthew J. Huentelman, Keri Ramsey, Vinodh Narayanan, James Plotnik> ;Journal of Aapos. 2021 Oct 7
• Improved methods for RNAseq-based alternative splicing analysis.
  Halperin RF, Hegde A, Lang JD, Raupach EA, C4RCD Research Group, Legendre C, Liang WS, LoRusso PM, Sekulic A, Sosman JA, Trent JM, Rangasamy S, Pirrotte P, Schork NJ> ;Scientific reports. 2021-05-24
• 4 citations
  Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
  Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang-Muritano, Conny M. A. van Ravenswaaij-Arts, Marwan ...> ;Genetics in Medicine. 2021 May 3
• Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
  Wie J, Bharthur A, Wolfgang M, Narayanan V, Ramsey K, C4RCD Research Group, Aranda K, Zhang Q, Zhou Y, Ren D> ;Nature communications. 2020-07-03
• 1 citations
  Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1.
  Szabolcs Szelinger, Jonida Krate, Keri Ramsey, Samuel P. Strom, Perry B. Shieh, Hane Lee, Newell Belnap, Chris Balak, Ashley L. Siniard, Megan Russell, Ryan Richholt, ...> ;Neurology Genetics. 2020 Jun 30
• 8 citations
  Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
  Lorida Llaci, Keri Ramsey, Newell Belnap, Ana M. Claasen, Chris Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Tyler Izat, Marcus Naymik...> ;Human Genetics. 2019 Nov 20
• 2 citations
  Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
  Carmel G McCullough, Szabolcs Szelinger, Newell Belnap, Keri Ramsey, Isabelle Schrauwen, Ana M. Claasen, Leah W. Burke, Ashley L. Siniard, Matthew J. Huentelman, Vinod...> ;Human Mutation. 2020 Feb 1
• 19 citations
  Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
  Chris Balak, Marianne Bénard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult-Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Ma...> ;American Journal of Human Genetics. 2019 Sep 5
• 9 citations
  Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2
  Wayne M. Jepsen, Keri Ramsey, Szabolcs Szelinger, Lorida Llaci, Chris Balak, Newell Belnap, Cherae Bilagody, Matthew De Both, Raj Gupta, Marcus Naymik, Richa Pandey, I...> ;Clinical Genetics. 2019 Jun 24
• Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
  Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, ...> ;Nature communications. 2019-02-12
• 7 citations
  A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q4...
  Chris Balak, Newell Belnap, Keri Ramsey, Shelagh Joss, Koen Devriendt, Marcus Naymik, Wayne M. Jepsen, Ashley L. Siniard, Szabolcs Szelinger, Mary E. Parker, Ryan Rich...> ;American Journal of Medical Genetics Part A. 2018 Jul 1
• 5 citations
  Exploring genome-wide DNA methylation patterns in Aicardi syndrome
  Ignazio S. Piras, Gabrielle Mills, Lorida Llaci, Marcus Naymik, Keri Ramsey, Newell Belnap, Chris Balak, Wayne M. Jepsen, Szabolcs Szelinger, Ashley L. Siniard, Candac...> ;Epigenomics. 2017 Oct 2
• 7 citations
  Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results
  Brittany Gerald, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Ashley L. Siniard, Chris Balak, Megan Russell, Ryan Richholt, Matt De Both, Ana M. Claasen, Isabelle S...> ;Seminars in Pediatric Neurology. 2017 Aug 16
• 19 citations
  Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellect...
  Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio ...> ;F1000Research. 2017 Apr 24
• 6 citations
  An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.
  H.K. Aintablian, Vinodh Narayanan, Newell Belnap, Keri E. Ramsey, Theresa A. Grebe> ;Molecular genetics and metabolism reports. 2017 Mar 1
• 6 citations
  A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
  Paul Dunn, G. P. Prigatano, Szabolcs Szelinger, J. Roth, Ashley L. Siniard, Ana M. Claasen, Ryan Richholt, M. D. De Both, Jason J. Corneveaux, A. M. Moskowitz, Chris B...> ;American Journal of Medical Genetics Part A. 2017 Jan 31
• 11 citations
  A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
  Abby M. Moskowitz, Newell Belnap, Ashley L. Siniard, Szabolcs Szelinger, Ana M. Claasen, Ryan Richholt, Matt De Both, Jason J. Corneveaux, Chris Balak, Ignazio S. Pira...> ;Cold Spring Harbor molecular case studies. 2016 Sep 1
• 96 citations
  Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
  Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Hannah Schütz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine ...> ;Neurology. 2016 Jun 7
• 20 citations
  A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
  Jing You, Nara Sobreira, Dustin L. Gable, Julie Jurgens, Dorothy K. Grange, Newell Belnap, Ashley L. Siniard, Szabolcs Szelinger, Isabelle Schrauwen, Ryan Richholt, St...> ;American Journal of Human Genetics. 2016 May 5
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Journal Articles

• A Novel FBXO28 Frameshift Mutation in a Child with Developmental Delay, Dysmorphic Features, and Intractable Epilepsy: A Second Gene That May Contribute to the 1q41‐q4...  
  Vinodh Narayanan, Newell Belnap, American Journal of Medical Genetics Part A