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Author/Creator Bale, Allen

1. A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH. (30th September 2020)

Authors:
Majumdar, Sachin K.; Jacob, Tess; Bale, Allen; Bailey, Allison; Kwon, Jeffrey; Hughes, Terence; Barbieri, Andrea L.; Laskin, William; Cohen, Paul; Carling, Tobias John Eric
Other Names:
Mastrandrea Lucy Academic Editor.
Journal:
Case reports in endocrinology
Issue:
Volume 2020(2020)
Page Start:
Record Type:
Journal Article
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2. A retrospective cohort analysis of the Yale pediatric genomics discovery program. Issue 10 (28th July 2022)

Authors:
Al‐Ali, Samir; Jeffries, Lauren; Faustino, E. Vincent S.; Ji, Weizhen; Mis, Emily; Konstantino, Monica; Zerillo, Cynthia; Jiang, Yong‐hui; Spencer‐Manzon, Michele; Bale, Allen; Zhang, Hui; McGlynn, Julie; McGrath, James M.; Tremblay, Thierry; Brodsky, Nina N.; Lucas, Carrie L.; Pierce, Richard; D...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 10(2022)
Page Start:
2869
Record Type:
Journal Article
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3. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. Issue 6 (23rd February 2022)

Authors:
Wen, Jiadi; Chai, Hongyan; Grommisch, Brittany; DiAdamo, Autumn; Dykas, Daniel; Ma, Deqiong; Popa, Andreea; Zhao, Chen; Spencer‐Manzon, Michele; Jiang, Yong‐Hui; McGrath, James; Li, Peining; Bale, Allen; Zhang, Hui
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 6(2022)
Page Start:
1728
Record Type:
Journal Article
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4. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. Issue 1 (8th October 2021)

Authors:
Werner, Kelly M.; Cox, Allison J.; Qian, Emily; Jain, Preti; Ji, Weizhen; Tikhonova, Irina; Castaldi, Christopher; Bilguvar, Kaya; Knight, James; Ferdinandusse, Sacha; Fawaz, Rima; Jiang, Yong‐Hui; Gallagher, Patrick G.; Bizzarro, Matthew; Gruen, Jeffrey R.; Bale, Allen; Zhang, Hui
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
357
Record Type:
Journal Article
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