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Ana Rita Soares

AZFb microdeletions and oligozoospermia—which mechanisms?
2012 · Ana Rita Soares, Paula Costa, et al. · Fertility and Sterility · 53
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
2022 · Elizabeth E. Palmer, Michael Pusch, et al. · Molecular Psychiatry · 35
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
2021 · Francis Rossignol, Marvid S. Duarte Moreno, et al. · Genetics in Medicine · 29
Safety of Empagliflozin: An Individual Participant-Level Data Meta-Analysis from Four Large Trials
2024 · Christoph Wanner, Hristo Iliev, et al. · Advances in Therapy · 20
Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy
2020 · Ana Rita Soares, Catarina Matos Figueiredo, et al. · touchREVIEWS in Endocrinology · 10
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Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V
2023 · Jorge Diogo Da Silva, Ângela Pereira, et al. · Pediatric Research · 4
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication
2022 · Jorge Diogo Da Silva, Diana Gonzaga, et al. · Biomedicines · 3
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Maturity-onset diabetes of the young in a large Portuguese cohort
2022 · Sílvia Santos Monteiro, Tiago da Silva Santos, et al. · Acta Diabetologica · 3
Phenotypic Heterogeneity of 16p11.2 Microdeletion Syndrome: 5 Case Reports
2025 · Sílvia Duarte Costa, Catarina Fraga, et al. · Journal of Child Neurology · 2
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Ethical and clinical challenges in managing low-penetrance CNVs: insights from Portuguese clinical geneticists
2026 · Ana Rita Soares, Jorge Diogo Da Silva, et al. · Frontiers in Genetics · 1
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PDX-1 related diabetes: a case series of two families highlighting challenges in MODY diagnosis
2025 · Beatriz Tavares da Silva, Ana Torrão Pinheiro, et al. · Acta Diabetologica · 1
Developing and evaluating a Portuguese-language meditation App for medical students: motivation, adherence, and emotional effects
2025 · Ana Rita Soares, Sandra Soares, et al. · Frontiers in Psychology · 1
Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
2023 · Ana Losa, Juliana Da Silva Cardoso, et al. · Cureus · 1
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Infantile Macrocephaly and Autism Spectrum Disorder Diagnosed with PTEN Hamartoma Tumor Syndrome: A Case Report
2022 · Liliana Sá, Ana Rebelo, et al. · Acta Scientific Paediatrics · 1
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Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
2020 · Nuno Maia, Ana Rita Soares, et al. · Clinical Case Reports · 1
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Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases
2019 · Ana Rita Soares, Gabriela Soares, et al. · Acta Médica Portuguesa · 1
Fabry Disease in Portugal – Insights From the Male Patients
2016 · Soares, Ana Rita, Laranjeira, Francisco, et al. · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · 1
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Defining the Genetic and Phenotypic Landscape of Primary Immune Regulatory Disorders Using the ClinGen Validation Framework
2026 · Benjamin D. Solomon, Justyne Ross, et al. · medRxiv
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A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants
2026 · Dezső David, Joana Fino, et al. · Human Genetics and Genomics Advances
Lipodystrophies in Clinical Practice: A Case Series From a Local Health Unit in Portugal
2026 · Renata Barbosa, Ana T Pinheiro, et al. · Cureus
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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series
2025 · Sebastian Burkart, Tarik Guzeloglu, et al. · Clinical Genetics
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Medical and ethical challenges in low penetrance copy number variants management: state-of-the-art in the Portuguese Clinical Genetics community
2025 · Ana Soares, Jorge Diogo Da Silva, et al. · Research Square
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P is not for Person: The Ethical Paradox of P Medicine
2024 · Filipa Sentieiro Sousa Lopes, Ana Sofia Carvalho, et al.
Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases
2024 · Isabel Serra Nunes, Jorge Diogo Da Silva, et al. · Acta Scientific Paediatrics
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Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Re-sults from a Retrospective Observational Study in a Tertiary Hospital
2023 · A. Pereira, J. Diogo da Silva, et al. · Endocrine Metabolic & Immune Disorders - Drug Targets
Works count: 35
Citation count: 167
H-index: 5
I10-index: 5
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