Publications by authors named "Nathaniel Robin"

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Beyond the cleft: dual diagnoses in patients with cleft lip and/or palate unrelated to orofacial malformations.
Giavanna Verdi, Farah H Salman, Dana H Goodloe, Taylor McClinchey, Nathaniel H Robin

Curr Opin Pediatr· December 2025

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Nathaniel H Robin

Genet Med· November 2025

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Obesity Prevalence in DDX3X-Related Neurodevelopmental Disorder.
Giavanna Verdi, Nathaniel H Robin

Am J Med Genet A· August 2025

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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Nathaniel H Robin

medRxiv· May 2025

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
Melanie P Napier, Erin Ryan, Adi Reich, Joshua A Suhl, Diane Masser-Frye, Nathaniel Robin

HGG Adv· April 2025

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Riding the gene therapy wave: challenges and opportunities for rare disease patients and clinicians.
Matthew S Alexander, Nathaniel H Robin

Curr Opin Pediatr· December 2024

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The genetics workforce must be addressed before we can realize the benefits of gene therapy.
Nathaniel H Robin

Curr Opin Pediatr· December 2024

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Medical students' reproductive health perspectives: Pre- and post-Roe v Wade reversal.
Morgan Jenkins, Margaret Hayslip, Channing Freeman Bruce, Nathaniel H Robin

Am J Med Genet A· November 2024

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"Why did I choose genetics?": A survey of current and recent medical genetics and genomics residents provides insight into recruitment efforts.
Jennifer Cassady Hayek, Miriam G Blitzer, Nathaniel H Robin

Am J Med Genet A· August 2024

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DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.
Yunjia Chen, Ender Karaca, Nathaniel H Robin, Dana Goodloe, Ali Al-Beshri

Genet Med· January 2024

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One academic medical center's experience in growing the genetic counseling service.
Nathaniel H Robin, Taylor N McClinchey

Curr Opin Pediatr· December 2023

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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Eva Niggl, Arjan Bouman, Lauren C Briere, Remco M Hoogenboezem, Ilse Wallaard, Nathaniel H Robin

Am J Hum Genet· August 2023

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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Nathaniel H Robin

Sci Adv· April 2023

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Lessons in genetics: Common diseases occur in patients with a genetic syndrome.
Nathaniel H Robin

Am J Med Genet A· February 2023

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Editorial: Prenatal genetic testing.
Morgan Jenkins, Angela R Seasely, Akila Subramaniam, Nathaniel H Robin

Curr Opin Pediatr· December 2022

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coding variants in the gene cause a neurodevelopmental disorder with intellectual disability.
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Nathaniel H Robin

J Med Genet· October 2022

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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

Genet Med· July 2022

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Near complete deletion of KMT2D in a college student.
Catherine Gooch, Jaclyn Paige Souder, Matthew L Tedder, Jennifer Kerkhof, Jennifer A Lee, Robin S Fletcher, Nathaniel H Robin

Am J Med Genet A· May 2022

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The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
Ryan K Thorpe, Hela Azaiez, Peina Wu, Qiuju Wang, Lei Xu, Nathaniel H Robin

Hum Genet· April 2022

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Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Patrick R Gonzales, Erica F Andersen, Teneille R Brown, Vanessa L Horner, Juli Horwitz, Nathaniel H Robin

Genet Med· February 2022

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The relationship between performance on the medical genetics and genomics in-training and certifying examinations.
Darrel J Waggoner, Francis O'Donnell, Azra H Ligon, Nathaniel H Robin, Kevin T McAllister

Genet Med· January 2022

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Occam's razor dulled: the occurrence of multiple genetic diagnoses.
Kristin B Linscott, Jennifer A Cassady, Nathaniel H Robin

Curr Opin Pediatr· December 2021

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Genetic testing hearing loss: The challenge of non syndromic mimics.
Catherine Gooch, Natasha Rudy, Richard Jh Smith, Nathaniel H Robin

Int J Pediatr Otorhinolaryngol· November 2021

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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

Am J Med Genet A· November 2021

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Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.
Edgar Soto, Shivani Ananthasekar, Srikanth Kurapati, Nathaniel H Robin, Cassi Smola

Ann Plast Surg· June 2021

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