1. A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase‐like 1 (INPPL1). (22nd May 2015) Authors: Lee, Hane; Nevarez, Lisette; Lachman, Ralph S.; Wilcox, William R.; Krakow, Deborah; Cohn, Daniel H. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase‐like 1 (INPPL1). (22nd May 2015) Authors: Lee, Hane; Nevarez, Lisette; Lachman, Ralph S.; Wilcox, William R.; Krakow, Deborah; Cohn, Daniel H.; University of Washington Center for Mendelian Genomics Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Issue 1 (6th November 2017) Authors: Zhang, Wenjuan; Taylor, S. Paige; Ennis, Hayley A.; Forlenza, Kimberly N.; Duran, Ivan; Li, Bing; Sanchez, Jorge A. Ortiz; Nevarez, Lisette; Nickerson, Deborah A.; Bamshad, Michael; Lachman, Ralph S.; Krakow, Deborah; Cohn, Daniel H. Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1. Issue 9 (25th July 2017) Authors: Balasubramanian, Karthika; Li, Bing; Krakow, Deborah; Nevarez, Lisette; Ho, Patric J.; Ainsworth, Julia A.; Nickerson, Deborah A.; Bamshad, Michael J.; Immken, LaDonna; Lachman, Ralph S.; Cohn, Daniel H. Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗