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Alyssa L. Rippert

Observed names: Alyssa Rippert, Rippert, Alyssa L.
ORCID: 0000-0003-4735-5223
Observed ORCID: 0000-0003-4735-5223
OpenAlex ID: A5067908626
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation
2023 · Audrey G. O’Neill, Anika L. Burrell, et al. · Journal of Biological Chemistry · 20
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Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors
2024 · Angela M. Pickart, Ann S. Martin, et al. · Journal of Genetic Counseling · 13
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Retrospective identification of patients with SRRM2‐related neurodevelopmental disorder in a single tertiary children's hospital
2023 · Kelly E. Regan‐Fendt, Alyssa L. Rippert, et al. · American Journal of Medical Genetics Part A · 13
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy
2023 · Julia Keisling, Emma Bedoukian, et al. · The Journal of Pediatrics · 11
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
2023 · Yukiko Kuroda, Aiko Iwata-Otsubo, et al. · Genetics in Medicine · 9
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
2025 · Avinash V. Dharmadhikari, Maria Alba Abad, et al. · Nature Communications · 7
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Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
2023 · Jessica R.C. Priestley, Ashish R. Deshwar, et al. · Genetics in Medicine · 7
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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
2025 · Camille Engel, Michaela Rendek, et al. · European Journal of Human Genetics · 5
Expansion of clinical and variant spectrum of EEF2 ‐related neurodevelopmental disorder: Report of two additional cases
2023 · Rose Guo, Alyssa L. Rippert, et al. · American Journal of Medical Genetics Part A · 5
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Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models
2025 · Fangfang Zhang, Tatjana Dorn, et al. · Communications Medicine · 4
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Unmasking the challenges of Kabuki syndrome in adulthood: A case series
2023 · Jessica R. C. Priestley, Alyssa L. Rippert, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 4
Rothmund‐Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population
2025 · Eden Teferedegn, Kosuke Izumi, et al. · American Journal of Medical Genetics Part A · 3
Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay
2025 · Alanna Strong, Caoimhe McKenna, et al. · American Journal of Medical Genetics Part A · 3
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16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome
2025 · Aiko Iwata-Otsubo, Alyssa L. Rippert, et al. · Genes · 3
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Expanding Genetic Counselor Roles: A Model for Global Research Development
2024 · Colleen C. Muraresku, Elizabeth M. McCormick, et al. · Genes · 3
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital
2025 · Victoria Dortenzio, Lidija Barbaric, et al. · American Journal of Medical Genetics Part A · 2
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Longitudinal outcomes in Noonan syndrome
2025 · Alyssa L. Rippert, Rebecca Reef, et al. · Genetics in Medicine · 2
Expanding the clinical phenotype and variant spectrum associated with RFX7
2024 · Talia Sisroe, Attila Dos Santos, et al. · American Journal of Medical Genetics Part A · 2
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O29: Characterization of liver disease in RASopathies
2025 · Alyssa Rippert, Alanna Strong, et al. · Genetics in Medicine Open · 1
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Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder
2020 · Yukiko Kuroda, Aiko Iwata-Otsubo, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
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De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons
2026 · Tomoki T. Nomakuchi, Alyssa L. Rippert, et al. · The American Journal of Human Genetics
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Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and Management
2026 · Hayley Nehoff, Ian Crozier, et al. · Circulation Genomic and Precision Medicine
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
2026 · Alyssa L. Rippert, Gudny Anna Arnadottir, et al. · American Journal of Medical Genetics Part A
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Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
2026 · Rippert, Alyssa L., Arnadottir, Gudny Anna, et al. · Zurich Open Repository and Archive (University of Zurich)
Hyperammonemia as the first clue: Dual diagnosis of lysinuric protein intolerance and a SOX2-related disorder in an infant with global developmental delay
2026 · Irma Payan-Walters, Alyssa Rippert, et al. · Molecular Genetics and Metabolism
Works count: 38
Citation count: 118
H-index: 7
I10-index: 4
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