Grazia M.S. Mancini

11.1k citations

79 papers · 2.7k indexed · h-index 28

Cell Biology top 2%
Clinical Biochemistry top 2%
Genetics top 2%
- Genetics and Neurodevelopmental Disorders 9
- Genomic variations and chromosomal abnormalities 8
- Genomics and Rare Diseases 7
Pediatrics, Perinatology and Child Health top 2%
- Fetal and Pediatric Neurological Disorders 14
- Neonatal Health and Biochemistry 9
Physiology top 5%
- Lysosomal Storage Disorders Research 10
Molecular Biology
- Glycosylation and Glycoproteins Research 7
Rheumatology
- Glycogen Storage Diseases and Myoclonus 7

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
Cited by: Cell Biology Clinical Biochemistry Genetics
Journals: Nature (1 paper)Journal of Biological Chemistry (3 papers)Journal of Clinical Investigation (1 paper)
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

The 25 scholars most cited alongside Grazia M.S. Mancini, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Grazia M.S. Mancini Line = papers co-authored together Grazia M.S. Mancini links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation American Journal of Neuroradiology ·Michal Gafner,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,M. Muqary,L. Gindes,Dorit Lev,Eugen Boltshauser,Tally Lerman‐Sagie	2023	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 Journal of Medical Genetics ·Aviël Ragamin,Carolina Cavaliéri Gomes,Karen Bindels‐de Heus,Renata Lazari Sandoval,Angelia V. Bassenden,Luciano Lauria Dib,Fernando Kok,Julieta Goncalves Silva Macedo Alves,Irene M.J. Mathijssen,Evita Medici-van den Herik,Robert Eveleigh,Tenzin Gayden,Bas Pullens,Albert M. Berghuis,Marjon van Slegtenhorst,Martina Wilke,Nada Jabado,Grazia M.S. Mancini,Ricardo Santiago Gomez	2021	9
3	A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement Clinical Genetics ·Sofia Douzgou,Myfanwy Rawson,Eulàlia Baselga,Moise Danielpour,Laurence Faivre,Alon Kashanian,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	2021	20
4	Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist European Journal of Paediatric Neurology ·Grazia M.S. Mancini,Daphne J. Smits,Jordy Dekker,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	2021	1
5	The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort Pediatric Neurology ·Mark R. Garrelfs,Sanami Takada,Erik‐Jan Kamsteeg,Sjoert Pegge,Grazia M.S. Mancini,Marc Engelen,Bart van de Warrenburg,Alexander J. Rennings,Judith van Gaalen,Ivo Peters,Corry M.R. Weemaes,Mirjam van der Burg,Michèl A.A.P. Willemsen	2020	6
6	EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia 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	2019	17
7	Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia Cell Reports ·Ana Uzquiano,Carmen Cifuentes-Díaz,Ammar Jabali,Delfina M. Romero,Anne Houllier,Florent Dingli,Camille Maillard,Anne Boland,Jean‐François Deleuze,Damarys Loew,Grazia M.S. Mancini,Nadia Bahi‐Buisson,Julia Ladewig,Fiona Francis	2019	33
8	Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family Parkinsonism & Related Disorders ·Demy J.S. Kuipers,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	2019	4
9	A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus Genetics in Medicine ·Illja J. Diets,Trine Prescott,Neena L. Champaigne,Grazia M.S. Mancini,Bård Kronen Krossnes,Radek Frič,Kristina Kocsis,Marjolijn C.J. Jongmans,Tjitske Kleefstra	2018	23
10	XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia 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	2016	197
11	Magnetic resonance imaging pattern recognition in hypomyelinating disorders 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	2010	180
12	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency Neurogenetics ·Ofir T. Betsalel,Jiddeke M. van de Kamp,Cristina Martínez-Muñoz,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	2008	25
13	Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects Journal of Neurology Neurosurgery & Psychiatry ·Marie‐Claire Y. de Wit,J M Kros,Dicky Halley,I.F.M. de Coo,Robert M. Verdijk,Bart C. Jacobs,Grazia M.S. Mancini	2008	35
14	Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus (MPPH): Report of a New Case Neuropediatrics ·Livia Garavelli,E. Guareschi,S. Errico,Anna De Simoni,P. Bergonzini,Marcella Zollino,Fiorella Gurrieri,Grazia M.S. Mancini,Rachel Schot,Peter J. van der Spek,Gustavo Frigieri,P. Zonari,E Albertini,Elvio Della Giustina,S. Amarri,G Banchini,William B. Dobyns,G. Neri	2007	17
15	Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency Human Mutation ·Maria Pia Cosma,Stefano Pepe,Giancarlo Parenti,Carmine Settembre,Ida Annunziata,Richard Wade‐Martins,Carmela Di Domenico,Paola Di Natale,Anuj Mankad,Barbara Cox,Graziella Uziel,Grazia M.S. Mancini,Enrico Zammarchi,Maria Alice Donati,Wim J. Kleijer,Mirella Filocamo,Romeo Carrozzo,Massimo Carella,Andrea Ballabio	2004	52
16	Mechanisms of Copper Incorporation into Human Ceruloplasmin Journal of Biological Chemistry ·Nathan E. Hellman,Satoshi Kono,Grazia M.S. Mancini,A. Jeannette M. Hoogeboom,G.J. de Jong,Jonathan D. Gitlin	2002	127
17	The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation The American Journal of Human Genetics ·Nina Aula,Pirjo Salomäki,Ritva Timonen,Frans W. Verheijen,Grazia M.S. Mancini,Jan‐Eric Månsson,Perttì Aula,Leena Peltonen	2000	85
18	Nucleotide-activated chloride channels in lysosomal membranes 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	1992	19
19	Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. Journal of Clinical Investigation ·Grazia M.S. Mancini,Cecile Beerens,Perttì Aula,F.W. Verheijen	1991	61
20	[Neonatal hyperthyroidism. Description of a case and brief review of the literature]. PubMed ·Grazia M.S. Mancini,Giuseppe N. Giordano	1979	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), Neonatal Health and Biochemistry (9 papers), Genetics and Neurodevelopmental Disorders (9 papers), Genomic variations and chromosomal abnormalities (8 papers), Glycosylation and Glycoproteins Research (7 papers), Genomics and Rare Diseases (7 papers) and Glycogen Storage Diseases and Myoclonus (7 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.

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