Daniel H Cohn

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 8

Top Venues

American journal of medical genetics. Part A

Human mutation

BMC genomics

This page only lists publications with an associated author ORCID identifier.

Publications

Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Debora Romeo Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta Mohan Girisha, Christine Hall, Deborah Krakow, Outimaija Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
Nosology of genetic skeletal disorders: 2023 revision. American journal of medical genetics. Part A (2023)
Geert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Andrea Superti-Furga, Sheila Unger, Matthew L Warman
Nosology and classification of genetic skeletal disorders: 2019 revision. American journal of medical genetics. Part A 179 (12) (2019)
Karthika Balasubramanian, MaryAnn Weis, David R Eyre, Jorge Martin, Jorge Ortiz-Sanchez, Ivan Duran, Sitaram Vangala, Juemei Wang, Rick A Friedman, Deborah Krakow, Daniel H Cohn
The α2 chain of type IX collagen is essential for type IX collagen biosynthesis. American journal of medical genetics. Part A 179 (8) (2019)
Fabiana Csukasi, Ivan Duran, Wenjuan Zhang, Jorge H Martin, Maya Barad, Michael Bamshad, Mary Ann Weis, David Eyre, Deborah Krakow, Daniel H Cohn
Dominant-negative SOX9 mutations in campomelic dysplasia. Human mutation 40 (12) (2019)
Andrea Hanson-Kahn, Bing Li, Daniel H Cohn, Deborah A Nickerson, Michael J Bamshad, null null, Louanne Hudgins
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. American journal of medical genetics. Part A 176 (12) (2018)
Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J Ho, Julia A Ainsworth, Deborah A Nickerson, Michael J Bamshad, LaDonna Immken, Ralph S Lachman, Daniel H Cohn
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. American journal of medical genetics. Part A 173 (9) (2017)
Wenjuan Zhang, S Paige Taylor, Hayley A Ennis, Kimberly N Forlenza, Ivan Duran, Bing Li, Jorge A Ortiz Sanchez, Lisette Nevarez, Deborah A Nickerson, Michael Bamshad, null null, Ralph S Lachman, Deborah Krakow, Daniel H Cohn
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Human mutation 39 (1) (2017)
Bing Li, Karthika Balasubramanian, Deborah Krakow, Daniel H Cohn
Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network. BMC genomics 18 (1) (2017)

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Publication Activity (10 Years)

Top Topics

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Daniel H Cohn