Mehrjouy Mana M - Department of Cellular and Molecular Medicine, University of Copenhagen

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论文共 41 篇作者统计合作学者相似作者

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Constitutional Copy Number Amplifications: Rare or Under-Evaluated? Revisiting a 25-Year-old Cold Case

Eliana Salvo, Romano Tenconi,Roberto Giorda, Sara Bertuzzo, Luca Cesana, Roberta Murru, Sabrina Giglio,Mana M Mehrjouy,Niels Tommerup,Orsetta Zuffardi,Maria Clara Bonaglia

European journal of human genetics EJHG (2025)

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Balanced Translocation T(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins with Silver-Russell Syndrome and Intellectual Disability

Vanessa Sodre de Souza,Halinna Dornelles Wawruk,Mana M. Mehrjouy,Mads Bak, Gabriela Corassa Rodrigues da Cunha, Ana Caroline Gabriel Goncalves,Mara Santos Cordoba,Niels Tommerup,Juliana F. Mazzeu

CLINICAL GENETICS (2025)

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Apparently Benign Cryptic Complexity in an Affected Carrier of a De Novo Translocation

Constantia Aristidou, Maria Paraskevopoulou,Ludmila Kousoulidou,Athina Theodosiou,Mana M. Mehrjouy,Violetta Anastasiadou, Georgios Tanteles,Niels Tommerup,Carolina Sismani

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Mesomelia-synostoses Syndrome: Contiguous Deletion Syndrome, SULF1 Haploinsufficiency or Enhancer Adoption

Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca,Juan Clinton Llerena Junior,Mana Mehrjouy,Niels Tommerup,Elenice Ferreira Bastos

Molecular Cytogeneticsno. 1 (2024)

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The Effect of a Single SMARCA4 Exon Deletion on RNA Splicing: Implications for Variant Classification

Anna Byrjalsen,Ulrik Stoltze,Mana Mehrjouy,Jane Hubertz Frederiksen,Mads Bak,Ulf Birkedal,Henrik Hasle,Anne-Marie Gerdes,Kjeld Schmiegelow,Karin Wadt,Thomas van Overeem Hansen

Molecular Genetics & Genomic Medicine (2023)

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Balanced Chromosomal Rearrangements Offer Insights into Coding and Noncoding Genomic Features Associated with Developmental Disorders

Chelsea Lowther,Mana Mehrjouy,Ryan Collins,Mads Bak,Olga Dudchenko,Harrison Brand,Zirui Dong,Malene B. Rasmussen,Peter Jacky,Erez Lieberman Aiden,Iben Bache,Michael Talkowski,Niels Tommerup

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 4-4

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Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families

Ambrin Fatima,Uzma Abdullah,Muhammad Farooq,Yuan Mang,Mana M. Mehrjouy,Maria Asif,Zafar Ali,Niels Tommerup,Shahid M. Baig

Genes（2021）

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A Shared Somatic Translocation Involving CUX1 in Monozygotic Twins As an Early Driver of AMKL in Down Syndrome

Iben Bache,Karin Wadt,Mana M. Mehrjouy,Maria Rossing,Olga Østrup,Anna Byrjalsen,Niels Tommerup,Marlen Metzner,Paresh Vyas,Kjeld Schmiegelow,Birgitte Lausen,Mette K. Andersen

Blood Cancer Journal（2020）

引用3浏览0WOSNATURE引用

Multigenic Truncation of the Semaphorin-Plexin Pathway by a Germline Chromothriptic Rearrangement Associated with Moebius Syndrome

Lusine Nazaryan-Petersen, Ines R. Oliveira,Mana M. Mehrjouy, Juan M. M. Mendez,Mads Bak,Merete Bugge,Vera M. Kalscheuer,Iben Bache,Dustin C. Hancks,Niels Tommerup

Human Mutation（2019）

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