Publications by authors named "Grazia M S Mancini"

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encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Danique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams

Neurology· January 2019

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Grazia M S Mancini

J Clin Invest· December 2025

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Grazia M S Mancini

Am J Hum Genet· December 2025

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The ER thioredoxin-related transmembrane protein TMX2 controls redox-mediated tethering of ER-mitochondria contacts.
Junsheng Chen, Megan C Yap, Arthur Bassot, Danielle M Pascual, Tadashi Makio, Grazia M S Mancini

Cell Rep· November 2025

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Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.
Daphne J Smits, Christophe Debuy, Alice S Brooks, Rachel Schot, Federico Ferraro, Grazia M S Mancini

Eur J Hum Genet· October 2025

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Grazia M S Mancini

Am J Hum Genet· October 2025

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The non-canonical thioreductase Tmx2b is essential for neuronal survival during zebrafish embryonic brain development.
Jordy Dekker, Wendy Lam, Herma C van der Linde, Floris Ophorst, Charlotte de Konink, Grazia M S Mancini

Development· September 2025

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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Grazia M S Mancini

Brain· June 2025

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Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Marissa J Maroni, Melissa Barton, Katherine Lynch, Ashish R Deshwar, Philip D Campbell, Grazia M S Mancini

medRxiv· April 2025

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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Grazia M S Mancini

HGG Adv· January 2025

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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Francesca Furia, Amanda M Levy, Miel Theunis, Michael J Bamshad, Meghan N Bartos, Grazia M S Mancini

Clin Genet· November 2024

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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Daphne J Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Grazia M S Mancini

HGG Adv· October 2024

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SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Grazia M S Mancini

Brain· November 2023

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Frederike L Harms, Alexander J M Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Grazia M S Mancini

Genet Med· November 2023

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Frederike L Harms, Alexander J M Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Grazia M S Mancini

Genet Med· October 2023

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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Grazia M S Mancini

Hum Mol Genet· October 2023

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SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Grazia M S Mancini

Brain· August 2023

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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Daphne J Smits, Rachel Schot, Cristiana A Popescu, Kerith-Rae Dias, Lesley Ades, Grazia M S Mancini

Hum Genet· July 2023

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Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy.
Young Wook Chun, Matthew Miyamoto, Charles H Williams, Leif R Neitzel, Maya Silver-Isenstadt, Grazia M S Mancini

Circulation· April 2023

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CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Daphne J Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Grazia M S Mancini

Hum Genet· March 2023

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Overlapping cortical malformations in patients with pathogenic variants in and .
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Grazia Maria Simonetta Mancini

J Med Genet· February 2023

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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G de Valk, Monique M van Veghel-Plandsoen, Grazia M S Mancini

Am J Hum Genet· February 2023

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Expanding the Allelic Heterogeneity of -Associated Autosomal Recessive Cerebellar Ataxia.
Sean Massey, Yiran Guo, Lisa G Riley, Nicole J Van Bergen, Sarah A Sandaradura, Grazia M S Mancini

Neurol Genet· February 2023

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Grazia M S Mancini

Am J Hum Genet· May 2022

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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Grazia M S Mancini

Am J Hum Genet· February 2022

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A novel family illustrating the mild phenotypic spectrum of TUBB2B variants.
Jordy Dekker, Karin E M Diderich, Rachel Schot, Sofie C Husen, Marjolein H G Dremmen, Grazia M S Mancini

Eur J Paediatr Neurol· November 2021

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