Eyby LuzLeon JanampaMD

PubMed

• Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy.
  Olivier Fortin, Kelsey Christoffel, Youssef Kousa, Ilana Miller, Eyby Leon, Kelsey Donoho, Sarah B Mulkey, Tayyba Anwar> ;Neurology. 2023 Oct 31
• 4 citations
  ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
  Eyby Leon, Claris Nde, Randall S Ray, Diego Preciado, Irene E Zohn> ;American Journal of Medical Genetics. Part A. 2023 Jan 1
• 2 citations
  Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
  Udeme D Ekong, Sahithi Reddy, Nada Yazigi, Khalid Khan, Stuart Kaufman, Kimberly A Chapman, Eyby Leon, Nicholas Ah Mew, Debra Regier, Erin MacLeod, Alexander Kroemer, ...> ;Liver Transplantation. 2022 Dec 1
• Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
  Charles J Billington Jr, Kimberly A Chapman, Eyby Leon, Beatrix W Meltzer, Seth I Berger, Matthew Olson, Robert A Figler, Steve A Hoang, Cui Wanxing, Brian R Wamhoff, ...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 2 citations
  Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature.
  Kerri Bosfield, Jullianne Diaz, Eyby Leon> ;Molecular Syndromology. 2021 Mar 29
• 23 citations
  Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
  Guoliang Chai, Alice Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor Marshall, Patrick M...> ;Neuron. 2021 Jan 20
• 5 citations
  Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.
  Andrea J. Cohen, Natasha Shur, Danielle Starin, Erin MacLeod, Tamanna R. Roshan Lal, Eyby Leon, Debra S Regier> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 Jan 11
• 4 citations
  Unique skeletal manifestations in patients with Primrose syndrome
  Veronica Arora, Eyby Leon, Jullianne Diaz, Hanne B Hove, Daniel R. Carvalho, Kenji Kurosawa, Naoto Nishimura, Gen Nishimura, Renu Saxena, Carlos Ferreira, Ratna Dua Pu...> ;European Journal of Medical Genetics. 2020 Aug 1
• 8 citations
  TFE3‐associated neurodevelopmental disorder: A distinct recognizable syndrome
  Jullianne Diaz, Seth Berger, Eyby Leon> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• 18 citations
  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 Feb 1
• 7 citations
  Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
  Jullianne Diaz, Timothy D. Kane, Eyby Leon> ;American Journal of Medical Genetics. Part A. 2020 Jan 3
• 30 citations
  Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
  Charlotte L. Alston, Mike T. Veling, Juliana Heidler, Lucie S. Taylor, Joseph T. Alaimo, Andrew Y. Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine...> ;American Journal of Human Genetics. 2020 Jan 2
• 5 citations
  Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies
  Eyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya, Daniel Grinberg, Susanna Balcells, Roser Urreizti> ;American Journal of Medical Genetics. Part A. 2020 Jan 1
• 42 citations
  Spectrum of K V 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders
  Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria, Jeffrey D. Calhoun, John B. O’Connor, Katarina L. Fabre, Dianalee McKnight, Laurie A. Demmer, P...> ;Annals of Neurology. 2019 Dec 1
• 6 citations
  MAP1B related syndrome: Case presentation and review of literature.
  Diana M Julca, Jullianne Diaz, Seth Berger, Eyby Leon> ;American Journal of Medical Genetics. Part A. 2019 Jul 17
• 9 citations
  Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations
  Katheryn Grand, Christina X Gonzalez-Gandolfi, Amanda M. Ackermann, Deema Aljeaid, Emma Bedoukian, Lynne M. Bird, Diva D. De León, Jullianne Diaz, Robert J. Hopkin, Se...> ;American Journal of Medical Genetics. Part A. 2019 Apr 1
• 45 citations
  Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
  Bo Yuan, Juanita Neira, Davut Pehlivan, Teresa Santiago-Sim, Xiaofei Song, Jill A. Rosenfeld, Jennifer E. Posey, Vipulkumar Patel, Weihong Jin, Margaret P. Adam, Emma ...> ;Genetics in Medicine. 2019 Mar 1
• 29 citations
  Cornelia de Lange syndrome in diverse populations
  Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 8 citations
  Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction
  David B. Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon> ;Translational Science of Rare Diseases. 2018 Apr 13
• 44 citations
  Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
  , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 7 citations
  Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
  David Isum Ward, Bethany A. Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean E. Hofherr, Amy Feldman Lewanda> ;American Journal of Medical Genetics. Part A. 2018 Jan 17
• 13 citations
  Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence bas...
  Carlos Ferreira, Matthew T. Whitehead, Eyby Leon> ;American Journal of Medical Genetics. Part A. 2017 Jun 1
• 34 citations
  CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype
  Leonie A. Menke, Martine J. van Belzen, Marielle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H. Gerkes, Mariëtte J.V. Hoffer, De...> ;American Journal of Medical Genetics. Part A. 2016 Jun 17
• 3 citations
  Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
  Debra S Regier, Eyby Leon, Debra R. Counts, Cynthia J. Tifft, Dina J. Zand> ;American Journal of Medical Genetics. Part A. 2015 Aug 1
• 5 citations
  Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.
  Alina Khromykh, Benjamin D. Solomon, Dale L. Bodian, Eyby Leon, Ramaswamy K. Iyer, Robin Baker, David P. Ascher, Rajiv Baveja, Joseph G. Vockley, John Niederhuber> ;Molecular Syndromology. 2015 Jul 3
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