Grazia M.S. Mancini

11.1k citations

79 papers · 2.7k indexed · h-index 28

Molecular Biology top 10%
Genetics top 2%
Physiology top 5%
Cell Biology top 2%
Pediatrics, Perinatology and Child Health top 2%

Co-authors: Cecile Beerens F.W. Verheijen I.F.M. de Coo Frans W. Verheijen Gajja S. Salomons Marije Meuwissen Maarten H. Lequin Jiddeke M. van de Kamp
Topics: Fetal and Pediatric Neurological Disorders (14 papers)Lysosomal Storage Disorders Research (10 papers)Neonatal Health and Biochemistry (9 papers)
Cited by: Cell Biology Clinical Biochemistry Genetics
Journals: Nature Journal of Biological Chemistry Journal of Clinical Investigation
Partner nations: Netherlands United States Germany

In The Last Decade

Grazia M.S. Mancini

76 papers receiving 2.7k citations

Peers

Countries citing papers authored by Grazia M.S. Mancini

Since Specialization

Citations

This map shows the geographic impact of Grazia M.S. Mancini's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Grazia M.S. Mancini with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Grazia M.S. Mancini more than expected).

Fields of papers citing papers by Grazia M.S. Mancini

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Grazia M.S. Mancini. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Grazia M.S. Mancini. The network helps show where Grazia M.S. Mancini may publish in the future.

Co-authorship network of co-authors of Grazia M.S. Mancini

This figure shows the co-authorship network connecting the top 25 collaborators of Grazia M.S. Mancini. A scholar is included among the top collaborators of Grazia M.S. Mancini based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Grazia M.S. Mancini. Grazia M.S. Mancini is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation 2023 ·American Journal of Neuroradiology ·(unknown),Cathérine Garel,Z. Leibovitz,Stéphanie Valence,Karina Krajden Haratz,Renske Oegema,Grazia M.S. Mancini,Delphine Héron,Eva Bueltmann,Lydie Bürglen,Diana Rodriguez,Thierry A.G.M. Huisman,Maarten H. Lequin,Ayala Arad,Debora Kidron,(unknown),L. Gindes,Dorit Lev,Eugen Boltshauser,Tally Lerman‐Sagie	0
2	De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy 2021 ·Journal of Medical Genetics ·(unknown),Carolina Cavaliéri Gomes,Karen Bindels‐de Heus,Renata Lazari Sandoval,Angelia V. Bassenden,Luciano Lauria Dib,Fernando Kok,(unknown),Irene M.J. Mathijssen,(unknown),Robert Eveleigh,Tenzin Gayden,Bas Pullens,Albert M. Berghuis,Marjon van Slegtenhorst,Martina Wilke,Nada Jabado,Grazia M.S. Mancini,Ricardo Santiago Gomez	9
3	A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement 2021 ·Clinical Genetics ·Sofia Douzgou,(unknown),Eulàlia Baselga,Moise Danielpour,Laurence Faivre,(unknown),Kim M. Keppler‐Noreuil,Paul Kuentz,Grazia M.S. Mancini,Marie‐Cécile Manière,Víctor Martínez‐Glez,Victoria Parker,Robert K. Semple,Siddharth Srivastava,P. Vabres,Marie‐Claire Y. de Wit,John M. Graham,Jill Clayton‐Smith,Ghayda Mirzaa,Leslie G. Biesecker	20
4	Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist 2021 ·European Journal of Paediatric Neurology ·Grazia M.S. Mancini,Daphne J. Smits,(unknown),Rachel Schot,Marie‐Claire Y. de Wit,Maarten H. Lequin,Marjolein H. G. Dremmen,Alice S. Brooks,Tjakko J. van Ham,Frans W. Verheijen,Maarten Fornerod,William B. Dobyns,Martina Wilke	1
5	The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort 2020 ·Pediatric Neurology ·(unknown),Sanami Takada,Erik‐Jan Kamsteeg,Sjoert Pegge,Grazia M.S. Mancini,Marc Engelen,Bart van de Warrenburg,Alexander J. Rennings,Judith van Gaalen,(unknown),Corry M.R. Weemaes,Mirjam van der Burg,Michèl A.A.P. Willemsen	6
6	EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia 2019 ·American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Renske Oegema,George McGillivray,Richard J. Leventer,Anne‐Gaëlle Le Moing,Nadia Bahi‐Buisson,Angela Barnicoat,Simone Mandelstam,David Francis,Fiona Francis,Grazia M.S. Mancini,Sanne M. C. Savelberg,Gijs van Haaften,Kshitij Mankad,Maarten H. Lequin	17
7	Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia 2019 ·Cell Reports ·Ana Uzquiano,Carmen Cifuentes-Díaz,Ammar Jabali,(unknown),Anne Houllier,Florent Dingli,(unknown),Anne Boland,Jean‐François Deleuze,Damarys Loew,Grazia M.S. Mancini,Nadia Bahi‐Buisson,Julia Ladewig,Fiona Francis	33
8	Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family 2019 ·Parkinsonism & Related Disorders ·(unknown),Zeynep Tüfekçıoğlu,Başar Bılgıç,Simone Olgiati,Marjolein H. G. Dremmen,Wilfred F. J. van IJcken,Guido J. Breedveld,Grazia M.S. Mancini,Haşmet Hanağası,Murat Emre,Vincenzo Bonifati	4
9	A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus 2018 ·Genetics in Medicine ·Illja J. Diets,Trine Prescott,(unknown),Grazia M.S. Mancini,Bård Kronen Krossnes,Radek Frič,(unknown),Marjolijn C.J. Jongmans,Tjitske Kleefstra	23
10	XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia 2016 ·Nature ·Nícolas C. Hoch,Hana Hanzlíková,Stuart L. Rulten,Martine Tétreault,Emilia Komulainen,Limei Ju,P. Hornyak,Zhihong Zeng,William H. Gittens,Stéphanie Rey,Kevin Staras,Grazia M.S. Mancini,Peter J. McKinnon,Zhao‐Qi Wang,Justin D. Wagner,Grace Yoon,Keith W. Caldecott	197
11	Magnetic resonance imaging pattern recognition in hypomyelinating disorders 2010 ·Brain ·Marjan E. Steenweg,Adeline Vanderver,Susan Blasér,Alberto Bizzi,Tom J. de Koning,Grazia M.S. Mancini,Wessel N. van Wieringen,Frederik Barkhof,Nicole I. Wolf,Marjo S. van der Knaap	180
12	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency 2008 ·Neurogenetics ·(unknown),Jiddeke M. van de Kamp,(unknown),Efraim H. Rosenberg,Arjan P.M. de Brouwer,Petra J. W. Pouwels,Marjo S. van der Knaap,Grazia M.S. Mancini,Cornelis Jakobs,Ben C.J. Hamel,Gajja S. Salomons	25
13	Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects 2008 ·Journal of Neurology Neurosurgery & Psychiatry ·Marie‐Claire Y. de Wit,(unknown),Dicky Halley,I.F.M. de Coo,Robert M. Verdijk,Bart C. Jacobs,Grazia M.S. Mancini	35
14	Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus (MPPH): Report of a New Case 2007 ·Neuropediatrics ·Livia Garavelli,(unknown),(unknown),Anna De Simoni,(unknown),Marcella Zollino,Fiorella Gurrieri,Grazia M.S. Mancini,Rachel Schot,Peter J. van der Spek,Gustavo Frigieri,(unknown),(unknown),(unknown),(unknown),G Banchini,William B. Dobyns,(unknown)	17
15	Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency 2004 ·Human Mutation ·Maria Pia Cosma,Stefano Pepe,Giancarlo Parenti,Carmine Settembre,Ida Annunziata,Richard Wade‐Martins,Carmela Di Domenico,Paola Di Natale,(unknown),Barbara Cox,Graziella Uziel,Grazia M.S. Mancini,Enrico Zammarchi,Maria Alice Donati,Wim J. Kleijer,Mirella Filocamo,Romeo Carrozzo,Massimo Carella,Andrea Ballabio	52
16	Mechanisms of Copper Incorporation into Human Ceruloplasmin 2002 ·Journal of Biological Chemistry ·Nathan E. Hellman,Satoshi Kono,Grazia M.S. Mancini,A. Jeannette M. Hoogeboom,(unknown),Jonathan D. Gitlin	127
17	The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation 2000 ·The American Journal of Human Genetics ·Nina Aula,(unknown),(unknown),Frans W. Verheijen,Grazia M.S. Mancini,Jan‐Eric Månsson,Perttì Aula,Leena Peltonen	85
18	Nucleotide-activated chloride channels in lysosomal membranes 1992 ·Biochemical and Biophysical Research Communications ·Ben C. Tilly,Grazia M.S. Mancini,Jan Bijman,Pieter G. M. van Gageldonk,Cecile Beerens,Robert J. Bridges,Hugo R. de Jonge,Frans W. Verheijen	19
19	Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. 1991 ·Journal of Clinical Investigation ·Grazia M.S. Mancini,Cecile Beerens,Perttì Aula,F.W. Verheijen	61
20	[Neonatal hyperthyroidism. Description of a case and brief review of the literature]. 1979 ·PubMed ·Grazia M.S. Mancini,Giuseppe N. Giordano	0

About Grazia M.S. Mancini

Grazia M.S. Mancini is a scholar working on Pediatrics, Perinatology and Child Health, Genetics and Clinical Biochemistry, having authored 79 papers that have together received 2.7k indexed citations. Recurring topics across this work include Fetal and Pediatric Neurological Disorders (14 papers), Lysosomal Storage Disorders Research (10 papers) and Neonatal Health and Biochemistry (9 papers). The work is most often cited by research in Cell Biology (491 citations), Clinical Biochemistry (184 citations) and Genetics (716 citations). Grazia M.S. Mancini has collaborated with scholars based in Netherlands, United States and Germany. Frequent co-authors include Cecile Beerens, F.W. Verheijen, I.F.M. de Coo, Frans W. Verheijen, Gajja S. Salomons, Marije Meuwissen, Maarten H. Lequin, Jiddeke M. van de Kamp, Perttì Aula and Marjo S. van der Knaap. Their work appears in journals such as Nature, Journal of Biological Chemistry and Journal of Clinical Investigation.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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