Publications by authors named "Beverly Hay"

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Hematologic Variations in Children With Down Syndrome.
Golda Grinberg, Gwen Sokoloff, Beverly Hay, Stefanie Lowas

J Pediatr Hematol Oncol· September 2025

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Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.
Jaime E Hale, Craig D Platt, Francisco A Bonilla, Beverly N Hay, John L Sullivan

J Allergy Clin Immunol Pract· May 2021

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Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Jaime E Hale, Basil T Darras, Kathryn J Swoboda, Elicia Estrella, Jin Yun Helen Chen, Beverly N Hay

Int J Neonatal Screen· May 2021

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Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
Jennifer Kane, Kristen Berrebi, Riley McLean, Stephanie Petkiewicz, Beverly Hay

Clin Case Rep· July 2017

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Michael D Fountain, Emmelien Aten, Megan T Cho, Jane Juusola, Magdalena A Walkiewicz, Beverly Hay

Genet Med· January 2017

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Koutaro Yokote, Sirisak Chanprasert, Lin Lee, Katharina Eirich, Minoru Takemoto, Beverly Hay

Hum Mutat· January 2017

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Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.
Jessica St John, Heather Summe, Courtney Csikesz, Karen Wiss, Beverly Hay

Pediatr Dermatol· September 2016

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De novo mutations in PURA are associated with hypotonia and developmental delay.
Akemi J Tanaka, Renkui Bai, Megan T Cho, Kwame Anyane-Yeboa, Priyanka Ahimaz, Beverly Hay

Cold Spring Harb Mol Case Stud· October 2015

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Dystrophic epidermolysis bullosa associated with amniotic band syndrome.
Haley Snadecki, Vincent Criscione, Alisha Jaquith, Beverly Hay, April Deng

Pediatr Dermatol· January 2015

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Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Antonia Kwan, Roshini S Abraham, Robert Currier, Amy Brower, Karen Andruszewski, Beverly N Hay

JAMA· August 2014

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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Emma Hilton, Jennifer Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Beverly Hay

Eur J Hum Genet· October 2009

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Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia.
Jessica C Hochberg, Patricia M Miron, Beverly N Hay, Bruce A Woda, Sa A Wang

Pediatr Blood Cancer· March 2008

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Deletion 22q11: spectrum of associated disorders.
Beverly N Hay

Semin Pediatr Neurol· September 2007

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Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.
Javier Chinen, Joie Davis, Suk See De Ravin, Beverly N Hay, Amy P Hsu

Blood· July 2007

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Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Elke M Botzenhart, Gabriella Bartalini, Edward Blair, Angela F Brady, Frances Elmslie, Beverly N Hay

Hum Mutat· February 2007

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Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
Beverly N Hay, Julie E Martin, Barbara Karp, Joie Davis, Dirk Darnell

Am J Med Genet A· March 2004

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