SelectedWorks - Mary-Alice Abbott MD

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Selected Works of Mary-Alice Abbott MD

Department of Pediatrics

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About Mary-Alice Abbott MD

Present	Physician, Baystate Health ‐ Department of Pediatrics
Institution Organization Position Type Position Title Time Period to Options Current Position Affiliate my profile with this Institution

Medicine and Health Sciences

Chairman’s Award, Special Contribution to UConn Pediatrics Residency Program (2000)

Baystate Health find a Provider link

Department of Pediatrics

50 Wason Ave.

Springfield, MA 01199

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder (Mary-Alice Abbott) All Scholarly Works (2022)

Purpose: CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled histone modification through promoting H3K4 ...

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (Mary-Alice Abbott) All Scholarly Works (2021)

Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals from 28 (26 unrelated) families. ...

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease (Mary-Alice Abbott) All Scholarly Works (2021)

Objective: To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype-phenotype correlations and identify reliable prognostic disease markers. Methods: We performed a retrospective multinational cohort study of previously unpublished patients ...

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the Caudal Type Homeobox 2 gene (Mary-Alice Abbott and Courtney Manning) All Scholarly Works (2021)

The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent cloaca, sirenomelia and/or renal and ...

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder (Mary-Alice Abbott) All Scholarly Works (2021)

We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases. These enzymes form the hexose-1-phosphates crucial for NDP-sugars synthesis and ensuing glycosylation ...

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy (Mary-Alice Abbott) All Scholarly Works (2021)

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected ...

Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome (Mary-Alice Abbott) All Scholarly Works (2021)

Just over a century ago, Dr. Gertrud Hurler described what is now commonly called Hurler syndrome. This rare inherited condition became known by terms describing its cardinal physical signs; the eponymous name was not proposed. ...

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (Mary-Alice Abbott) All Scholarly Works (2021)

Background: An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and ...

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome (Mary-Alice Abbott) All Scholarly Works (2021)

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five ...

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions (Mary-Alice Abbott) All Scholarly Works (2020)

ALG13 encodes a non-redundant, highly conserved, X-linked UDP-N-Acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known ...

Twin-to-twin Transmission of Transient Abnormal Myelopoiesis Without Constitutional Trisomy 21: A Case Report (Alexander Roseman, Shubham Bakshi, Lisa Grady, et al.) All Scholarly Works (2020)

GAA Variants and Phenotypes Among 1079 Patients with Pompe Disease: Data from the Pompe Registry (Mary-Alice Abbott) All Scholarly Works (2019)

Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed ...

Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature (Adam Adamidis, Anna Tsirka, Mary-Alice Abbott, et al.) All Scholarly Works (2019)

Apparent mineralocorticoid excess (AME) is a rare inherited disorder caused by pathogenic variants in the 11β-HSD2 gene resulting in a deficiency of the 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) enzyme catalyzing the conversion of cortisol to ...

Natural History and Genotype-Phenotype Correlations in 72 Individuals with SATB2-Associated Syndrome (Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.) American Journal of Medical Genetics (2018)

SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series ...

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome (Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.) American Journal of Medical Genetics: Part A (2018)

SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series ...

Practical Pearl: Making Sense of Expanded Newborn Screening - March 2018 (Mary-Alice Abbott) Pediatrics Practical Pearls: Referral Guidelines for Common Problems (2018)

Practical Pearl: Prenatal Screening (Mary-Alice Abbott) Pediatrics Practical Pearls: Referral Guidelines for Common Problems (2017)

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (Claire Redin, Harrison Brand, Ryan L Collins, et al.) Nature genetics (2017)

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital ...

Cleft lip and palate (Mary-Alice Abbott) All Scholarly Works (2014)

Atypical immunologic response in a patient with CRIM-negative Pompe disease (Mary-Alice Abbott) All Scholarly Works (2011)

We report the clinical course of a patient with severe infantile onset Pompe disease [cross-reactive immunologic material (CRIM) negative, R854X/R854X] who was diagnosed prenatally and received standard dosing of alglucosidase alfa (MyozymeÂ®) enzyme replacement therapy ...

Cutia aplasia and transverse limb defects related to first trimester misoprostol exposure (Mary-Alice Abbott and Sara Goldstein) All Scholarly Works (2011)

The value of vitamin D therapy in neonatal hypocalciuric hypercalcemia (Holley Allen, Ksenia Tonyushkina, Edward Reiter, et al.) All Scholarly Works (2010)

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping (Mary-Alice Abbott) All Scholarly Works (2009)

We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently ...

Genetic disorders and dysmorphology (Mary-Alice Abbott) All Scholarly Works (2008)

Interpretation of newborn screening tests (Mary-Alice Abbott) All Scholarly Works (2008)