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Author/Creator Boyden, Steven E.

1. Brief Report: Whole‐Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans. Issue 10 (29th August 2018)

Authors:
Gourh, Pravitt; Remmers, Elaine F.; Boyden, Steven E.; Alexander, Theresa; Morgan, Nadia D.; Shah, Ami A.; Mayes, Maureen D.; Doumatey, Ayo; Bentley, Amy R.; Shriner, Daniel; Domsic, Robyn T.; Medsger, Thomas A.; Steen, Virginia D.; Ramos, Paula S.; Silver, Richard M.; Korman, Benjamin; Varga, Jo...
Journal:
Arthritis & rheumatology
Issue:
Volume 70:Issue 10(2018)
Page Start:
1654
Record Type:
Journal Article
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2. Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Issue 4 (4th February 2022)

Authors:
Nicholas, Thomas J.; Al‐Sweel, Najla; Farrell, Andrew; Mao, Rong; Bayrak‐Toydemir, Pinar; Miller, Christine E.; Bentley, Dawn; Palmquist, Rachel; Moore, Barry; Hernandez, Edgar J.; Cormier, Michael J.; Fredrickson, Eric; Noble, Katherine; Rynearson, Shawn; Holt, Carson; Karren, Mary Anne; Bo...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 4(2022)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome. Issue 2 (12th December 2018)

Authors:
Faridi, Rabia; Tona, Risa; Brofferio, Alessandra; Hoa, Michael; Olszewski, Rafal; Schrauwen, Isabelle; Assir, Muhammad Z.K.; Bandesha, Akhtar A.; Khan, Asma A.; Rehman, Atteeq U.; Brewer, Carmen; Ahmed, Wasim; Leal, Suzanne M.; Riazuddin, Sheikh; Boyden, Steven E.; Friedman, Thomas B.
Journal:
Human mutation
Issue:
Volume 40:Issue 2(2019)
Page Start:
162
Record Type:
Journal Article
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