Publications by authors named "Alyssa Tran"

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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gecz, Alyssa A Tran

Genet Med· July 2025

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Crystal Chemistry and Design Principles of Altermagnets.
Chao-Chun Wei, Erick Lawrence, Alyssa Tran, Huiwen Ji

ACS Org Inorg Au· December 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Alyssa Tran

Am J Hum Genet· June 2024

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The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
Ronit Marom, I-Wen Song, Emily C Busse, Megan E Washington, Ava S Berrier, Alyssa A Tran

J Clin Invest· June 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Alyssa Tran

Am J Hum Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Alyssa Tran

Am J Hum Genet· January 2024

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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Alyssa A Tran

PLoS Genet· November 2023

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Rare variants in cause delayed development, intellectual disability, autism, and epilepsy.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Jessica M Pfliger, Jill A Rosenfeld, Alyssa Tran

medRxiv· March 2023

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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Laura Keehan, Isabel Haviland, Yoel Gofin, Lindsay C Swanson, Christelle Moufawad El Achkar, Alyssa Tran

Am J Med Genet A· December 2022

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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Christina L Magyar, David R Murdock, Lindsay C Burrage, Hongzheng Dai, Seema R Lalani, Alyssa A Tran

Am J Med Genet A· June 2022

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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
Joshua Manor, Daniel G Calame, Charul Gijavanekar, Alyssa Tran, Jawid M Fatih

Brain· June 2022

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Targeting TGF-β for treatment of osteogenesis imperfecta.
I-Wen Song, Sandesh Cs Nagamani, Dianne Nguyen, Ingo Grafe, Vernon Reid Sutton, Alyssa Tran

J Clin Invest· April 2022

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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Ronit Marom, Lindsay C Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco-Sánchez, Alyssa A Tran

Am J Hum Genet· September 2021

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Dongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, Anita E Beck, Emily G Farrow, Alyssa Tran

Am J Hum Genet· April 2020

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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Maureen Handoko, Lisa T Emrick, Jill A Rosenfeld, Xia Wang, Alyssa A Tran

Am J Med Genet A· March 2019

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Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in Causing Osteogenesis Imperfecta Type VI.
Zixue Jin, Lindsay C Burrage, Ming-Ming Jiang, Yi-Chien Lee, Terry Bertin, Alyssa Tran

JBMR Plus· July 2018

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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Ronit Marom, Mahim Jain, Lindsay C Burrage, I-Wen Song, Brett H Graham, Alyssa A Tran

Hum Mutat· October 2017

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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran

Am J Med Genet A· October 2017

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Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Keren Machol, Mahim Jain, Mohammed Almannai, Thibault Orand, James T Lu, Alyssa Tran

Am J Med Genet A· March 2017

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Mapping multisensory parietal face and body areas in humans.
Ruey-Song Huang, Ching-fu Chen, Alyssa T Tran, Katie L Holstein, Martin I Sereno

Proc Natl Acad Sci U S A· October 2012

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Assessment of bone mineral status in children with Marfan syndrome.
Monica Grover, Nicola Brunetti-Pierri, John Belmont, Kelly Phan, Alyssa Tran

Am J Med Genet A· September 2012

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Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?
Kiran S Choudhry, Monica Grover, Alyssa A Tran, E O'Brian Smith, Kenneth J Ellis

Mol Genet Metab· June 2012

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Generalized metabolic bone disease in Neurofibromatosis type I.
Nicola Brunetti-Pierri, Stephen B Doty, John Hicks, Kelly Phan, Roberto Mendoza-Londono, Alyssa Tran

Mol Genet Metab· May 2008

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RMRP mutations in cartilage-hair hypoplasia.
Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel

Am J Med Genet A· October 2006

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