Grazia Mancini
Erasmus Universiteit Rotterdam
H-index: 70
Europe-Netherlands
Top articles of Grazia Mancini
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia | Neurology: Genetics | Sean Massey Yiran Guo Lisa G Riley Nicole J Van Bergen Sarah A Sandaradura | 2023/1/23 |
Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy | Circulation | Young Wook Chun Matthew Miyamoto Charles H Williams Leif R Neitzel Maya Silver-Isenstadt | 2023/4/25 |
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by … | Human molecular genetics | Zhigang Liu Baozhong Xin Iris N Smith Valerie Sency Julia Szekely | 2023/10/15 |
Medullary tegmental cap dysplasia: fetal and postnatal presentations of a unique brainstem malformation | M Gafner C Garel Z Leibovitz S Valence K Krajden Haratz | 2023/3/1 | |
de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias | Genetics in Medicine | Frederike L Harms Alexander JM Dingemans Maja Hempel Rolph Pfundt Tatjana Bierhals | 2023/10/1 |
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment | Human Genetics | Daphne J Smits Jordy Dekker Rachel Schot Brahim Tabarki Amal Alhashem | 2023/3 |
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes | Brain | Daphne J Smits Rachel Schot Nathalie Krusy Katja Wiegmann Olaf Utermöhlen | 2023/8 |
Web-accessible application for identifying pathogenic transcripts with RNA-Seq: increased sensitivity in diagnosis of neurodevelopmental disorders | The American Journal of Human Genetics | Jordy Dekker Rachel Schot Michiel Bongaerts Walter G de Valk Monique M van Veghel-Plandsoen | 2023/2/2 |
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues | Human Genetics | Daphne J Smits Rachel Schot Cristiana A Popescu Kerith-Rae Dias Lesley Ades | 2023/7 |
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B | Journal of medical genetics | Stefanie Brock Annie Laquerriere Florent Marguet Scott J Myers Yuan Hongjie | 2023/2/1 |
C04. 2 Genetic and mechanistic dissection of non-muscle actinopathies caused by ACTB or ACTG1 variants | European Journal of Human Genetics | N Di Donato A Thom M Seifert J Greve I Kreimer | 2023/5/11 |
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission | Brain | James Fasham Antje K Huebner Lutz Liebmann Reham Khalaf-Nazzal Reza Maroofian | 2023/11 |
PIGG variant pathogenicity assessment reveals novel features within nineteen families | EUROPEAN JOURNAL OF HUMAN GENETICS | Camille Tremblay-Laganiere Reza Maroofian TTM Nguyen Ehsan Ghayoor Karimiani Salman Kirmani | 2022 |
A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement | Sofia Douzgou Myfanwy Rawson Eulalia Baselga Moise Danielpour Laurence Faivre | 2022/1 | |
RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants | medRxiv | Jordy Dekker Rachel Schot Michiel Bongaerts Walter G de Valk Monique M van Veghel-Plandsoen | 2022/6/7 |
De novo variants in ATP2B1 lead to neurodevelopmental delay | The American Journal of Human Genetics | Meer Jacob Rahimi Nicole Urban Meret Wegler Heinrich Sticht Michael Schaefer | 2022/5/5 |
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy | Journal of medical genetics | Aviel Ragamin Carolina C Gomes Karen Bindels-de Heus Renata Sandoval Angelia V Bassenden | 2022/3/1 |
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder | The American Journal of Human Genetics | Sébastien Küry Frédéric Ebstein Alice Mollé Thomas Besnard Ming-Kang Lee | 2022/2/3 |
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies | Acta Obstetricia et Gynecologica Scandinavica | Karin EM Diderich Kathleen Romijn Marieke Joosten Lutgarde CP Govaerts Marike Polak | 2021/6 |
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death | Cell | Justin Taft Michael Markson Diana Legarda Roosheel Patel Mark Chan | 2021/8/19 |
