NathanielHRobinMD

PubMed

• Stickler Syndrome (SS): Laser Prophylaxis for Retinal Detachment (Modified Ora Secunda Cerclage, OSC/SS).
  Robert Morris, Edward Scott Parma, Nathaniel H. Robin, Mathew R. Sapp, Matthew H. Oltmanns, Matthew R West, Donald C. Fletcher, Ronald A. Schuchard, Ferenc Kuhn> ;Clinical Ophthalmology. 2021 Jan 6
• Medical genetics, expert medical testimony, and suspected child abuse cases: a call for evidence-based standards in clinic and the courtroom.
  Natasha Shur, Nathaniel H. Robin> ;Current Opinion in Pediatrics. 2020 Dec 16
• Genetic consultations in cases of unexplained fractures and haemorrhage: an evidence-based approach.
  Natasha Shur, Maxwell L. Summerlin, Nathaniel H. Robin, Adam Moreno-Mendelson, Eglal Shalaby-Rana, Tanya S. Hinds> ;Current Opinion in Pediatrics. 2020 Dec 16
• JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
  Eline A. Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael-Croes, Saskia M. Maas, Abeltje M. Polstra, Yuri A. Zarate, Katherine A. Bosanko, Kieran ...> ;Genetics in Medicine. 2020 Oct 20
• Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
  Megan Boothe, Robert Morris, Nathaniel H. Robin> ;Journal of Personalized Medicine. 2020 Aug 27
• Dysmorphology in the Era of Genomic Diagnosis.
  Anna C. E. Hurst, Nathaniel H. Robin> ;Journal of Personalized Medicine. 2020 Mar 17
• Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.
  Aditi Dhir, Rong Li, Geling Li, Joy Dean, Nathaniel H. Robin, Elizabeth Alva> ;Pediatric Blood & Cancer. 2020 Mar 1
• The duty to warn at-risk relatives-The experience of genetic counselors and medical geneticists.
  Perry, T. J., Patton, S. I., Farmer, M. B., Hurst, C. B., McGwin, G., Robin, N. H.> ;American journal of medical genetics. Part A. 2019 Dec 10
• Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.
  Catherine Gooch, Nathaniel H Robin, Anna C E Hurst> ;2019 Dec 1
• Teaching Dysmorphology in the Era of Genomics: New Technologies, New Learners
  Nathaniel H. Robin> ;Current Opinion in Pediatrics. 2018 Dec 1
• A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
  Jariya Upadia, Patrick R. Gonzales, T. Prescott Atkinson, Harry W. Schroeder, Nathaniel H. Robin, Natasha L. Rudy, Fady M. Mikhail> ;American Journal of Medical Genetics Part A. 2018 Dec 1
• Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
  Jariya Upadia, Patrick R. Gonzales, Nathaniel H. Robin> ;American Journal of Medical Genetics Part A. 2018 Jun 1
• A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
  Jariya Upadia, Joseph B. Philips, Nathaniel H. Robin, Edward J. Lose, Fady M. Mikhail> ;Clinical Case Reports. 2018 Apr 1
• Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary Alice Abbott, Victoria Mok Siu, Amy R.U.L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie Ka...> ;American Journal of Medical Genetics Part A. 2018 Apr 1
• Programme directors' opinions on medical genetics education in pediatric residency programmes.
  Hamm, J. A., Nichols, M. H., Robin, N. H.> ;Current opinion in pediatrics. 2017 Sep 25
• Foramen magnum compression in Coffin-Lowry syndrome: A case report.
  Jariya Upadia, Jerry Oakes, Austin Hamm, Anna C. E. Hurst, Nathaniel H. Robin> ;American Journal of Medical Genetics Part A. 2017 Apr 1
• De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
  Esther R. Berko, Megan T. Cho, Christine M. Eng, Yunru Shao, David A. Sweetser, Jessica L. Waxler, Nathaniel H. Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohasse...> ;Journal of Medical Genetics. 2017 Feb 1
• Growth parameters: the cheap and easy genetic test.
  Nathaniel H. Robin> ;Current Opinion in Pediatrics. 2016 Dec 1
• Radiogenomics: towards a personalized radiation oncology.
  Roberson, J. D., Burnett, O. L., Robin, N. H.> ;Current opinion in pediatrics. 2016 Nov 3
• 4 citations
  Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
  Hollenbeck, D., Williams, C. L., Drazba, K., Descartes, M., Korf, B. R., Rutledge, S. L., Lose, E. J., Robin, N. H., Carroll, A. J., Mikhail, F. M.> ;Genetics in medicine : official journal of the American College of Medical Genetics. 2016 Sep 16
• 2 citations
  De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
  Mari J. Tokita, Alicia Braxton, Yunru Shao, Andrea M. Lewis, Marie Vincent, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Xenia Latypova, Stéphane Bézieau, Pengfei ...> ;American Journal of Human Genetics. 2016 Sep 1
• Trisomy 18: A survey of opinions, attitudes, and practices of neonatologists.
  Adam P. Jacobs, Akila Subramaniam, Ying Tang, Joseph B. Philips, Joseph R. Biggio, Rodney K. Edwards, Nathaniel H. Robin> ;American Journal of Medical Genetics Part A. 2016 Jun 17
• IRF6 Sequencing in Interrupted Clefting.
  Sanmati R. Cuddapah, Selma Kominek, John H. Grant, Nathaniel H. Robin> ;The Cleft Palate-Craniofacial Journal. 2016 Apr 25
• Sixteenth‐century German woodcut of a male infant with possible disorganization
  Thomas Heyne, Nathaniel H. Robin, Angela E. Lin> ;Clinical Genetics. 2016 Feb 1
• 1 citations
  Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention.
  Akila Subramaniam, Adam P. Jacobs, Ying Tang, Cherry Neely, Joseph B. Philips, Joseph R. Biggio, Nathaniel H. Robin, Rodney K. Edwards> ;American Journal of Medical Genetics Part A. 2016 Jan 5
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