NathanielHRobinMD

PubMed

• Lessons in genetics: Common diseases occur in patients with a genetic syndrome.
  Nathaniel H Robin> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• 13 citations
  Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Marilyn M Li, Ahmad Abou Tayoun, Marina DiStefano, Arti Pandya, Heidi L Rehm, Nathaniel H Robin, Amanda M Schaefer, Christine Yoshinaga-Itano> ;Genetics in Medicine. 2022 Jul 1
• 2 citations
  Near complete deletion of KMT2D in a college student.
  Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder, Jennifer Kerkhof, Jennifer A Lee, Raymond J Louie, Bekim Sadikovic, Robin S Fletcher, Nathaniel H Robin> ;American Journal of Medical Genetics. Part A. 2022 May 1
• 9 citations
  Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American Colle...
  Patrick R Gonzales, Erica F Andersen, Teneille R Brown, Vanessa L Horner, Juli Horwitz, Catherine W Rehder, Natasha L Rudy, Nathaniel H Robin, Erik C Thorland, On Beha...> ;Genetics in Medicine. 2022 Feb 1
• 10 citations
  coding variants in thegene cause a neurodevelopmental disorder with intellectual disability.
  Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé ...> ;Journal of Medical Genetics. 2022 Oct 1
• The relationship between performance on the medical genetics and genomics in-training and certifying examinations
  Darrel Waggoner, Francis O’Donnell, Azra H. Ligon, Nathaniel H. Robin, Kevin McAllister, Miriam G. Blitzer> ;Genetics in Medicine. 2021 Nov 30
• 1 citations
  Occam's razor dulled: the occurrence of multiple genetic diagnoses.
  Kristin B. Linscott, Jennifer A. Cassady, Nathaniel H. Robin> ;Current Opinion in Pediatrics. 2021 Dec 1
• The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report
  Desalyn Louise Johnson, Caterina Abdala Villa, Matthew C Lustig, Nathaniel H. Robin> ;American Journal of Medical Genetics. Part A. 2021 Sep 2
• 4 citations
  The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
  Ryan K Thorpe, Hela Azaiez, Peina Wu, Qiuju Wang, Lei Xu, Pu Dai, Tao Yang, G. Bradley Schaefer, B Robert Peters, Kenny H. Chan, Krista Sondergaard Schatz, Joann Bodur...> ;Human Genetics. 2021 Aug 23
• 6 citations
  Genetic testing hearing loss: The challenge of non syndromic mimics.
  Catherine Gooch, Natasha L. Rudy, Richard J.H. Smith, Nathaniel H. Robin> ;International Journal of Pediatric Otorhinolaryngology. 2021 Aug 16
• Choose your words carefully
  Nathaniel H. Robin> ;American Journal of Medical Genetics. Part A. 2021 Apr 8
• 5 citations
  Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.
  Edgar Soto, Shivani Ananthasekar, Srikanth Kurapati, Nathaniel H. Robin, Cassi Smola, Mary Halsey Maddox, Carter J Boyd, René P. Myers> ;Annals of Plastic Surgery. 2021 Apr 5
• 44 citations
  SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
  Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andres Hernandez-Garcia, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam...> ;American Journal of Human Genetics. 2021 Mar 4
• 6 citations
  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
• 3 citations
  Editorial: 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. 2021 Feb 1
• 2 citations
  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. 2021 Feb 1
• 11 citations
  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. 2021 Feb 1
• 25 citations
  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
• 1 citations
  Inherited Cause of in Utero Digital Malformations
  Catherine Gooch, Caitlin Wright, Katherine R. Nelson, Nathaniel H. Robin> ;BMJ Case Reports. 2020 Mar 24
• 5 citations
  Dysmorphology in the Era of Genomic Diagnosis.
  Anna C.E. Hurst, Nathaniel H. Robin> ;Journal of Personalized Medicine. 2020 Mar 17
• 2 citations
  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
• 5 citations
  The duty to warn at-risk relatives-The experience of genetic counselors and medical geneticists.
  Tabitha J. Perry, Samantha I. Patton, Meagan Farmer, Christina B. Hurst, Gerald McGwin, Nathaniel H. Robin> ;American Journal of Medical Genetics. Part A. 2020 Feb 1
• Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes.
  Catherine Gooch, Nathaniel H Robin, Anna C E Hurst> ;Current Opinion in Pediatrics. 2019 Dec 1
• 10 citations
  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
• 3 citations
  Teaching dysmorphology in the era of genomics: new technologies, new learners
  Nathaniel H. Robin> ;Current Opinion in Pediatrics. 2018 Dec 1
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