Alice Goldenberg

7.0k citations

49 papers · 1.1k indexed · h-index 20

Impact in

Genetics top 5%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Connective tissue disorders research
Developmental Biology top 10%

Papers in

Developmental Biology 3
Genetics 25
- Genomic variations and chromosomal abnormalities 12
- Genetics and Neurodevelopmental Disorders 6
- Genomics and Rare Diseases 5
- Connective tissue disorders research 3

Co-authors: Valérie Cormier‐Daire Pascale Saugier-Véber Arnold Münnich Thierry Frébourg Muriel Holder‐Espinasse Geneviève Baujat Joris Andrieux Nathalie Le Meur
Journals: European Journal of Human Genetics (5 papers)Human Mutation (4 papers)Acta Neuropathologica Communications (2 papers)Orphanet Journal of Rare Diseases (2 papers)European Journal of Medical Genetics (2 papers)
Partner nations: France United States Italy

In The Last Decade

Alice Goldenberg

49 papers receiving 1.1k citations

Peers

Countries citing papers authored by Alice Goldenberg

Since Specialization

Citations

This map shows the geographic impact of Alice Goldenberg'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 Alice Goldenberg with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Alice Goldenberg more than expected).

Fields of papers citing papers by Alice Goldenberg

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Alice Goldenberg. 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 Alice Goldenberg. The network helps show where Alice Goldenberg may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Alice Goldenberg, 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 Alice Goldenberg Line = papers co-authored together Alice Goldenberg links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work
1	Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics npj Genomic Medicine ·学而熊谷, Dominique Vidaud, Severino Cavalcante de Sousa Júnior, Edward A. Walker, Mark Stein, Fabian Bill, Malin Olbers, Ingrid Laurendeau, Geny Syahdiany, Mattias Carlsson Feng, Benoît Funalot, P. Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice‐Picard, Djihad Hadjadj, Béatrice Parfait, Éric Pasmant	2024	2
2	High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders Human Genetics ·François Lecoquierre, Olivier Quenez, Shara R. Johnson, Sophie Coutant, Myriam Vézain, Sandra A. Frederixon, Nathalie Drouot, Anne Boland, Robert Olaso, Vincent Meyer, Jean‐François Deleuze, 有悟芦野, Nils Faltin, E. Nuesch, Pascale Saugier-Véber, Alice Goldenberg, Anne‐Marie Guerrot, Gaël Nicolas	2023	4
3	Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy European Journal of Human Genetics ·Jan Jasiński, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M. Gorman, Debbora Battaglia, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Sophie Julia, Johannes R. Lemke, Rami Abou Jamra, Konrad Platzer	2022	4
4	SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients Orphanet Journal of Rare Diseases ·ايناس سلم عبد الاحد, CongPeng, Sylvain Breton, Marie‐Liesse Piketty, Alexandra Afenjar, J. Amiel, Yline Capri, Alice Goldenberg, Christine Francannet, Caroline Michot, Cyril Mignot, Laurence Perrin, Chloé Quēlin, (unknown), Giulia Barcia, Véronique Pingault, Gérard Maruani, Eugénie Koumakis, Valérie Cormier‐Daire	2022	10
5	Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings American Journal of Medical Genetics Part A ·Maud Blanluet, Sandra Chantot‐Bastaraud, Pascal Chambon, Kévin Cassinari, Gabriella Vera, Alice Goldenberg, Boris Keren, Nathalie Le Meur, Didier Hannequin, Bertrand Macé, Jean‐Pierre Siffroi, Thierry Frébourg, Gaël Nicolas, Géraldine Joly‐Hélas	2021	1
6	Stapes surgery in osteogenesis imperfecta: retrospective analysis of 18 operated ears European Archives of Oto-Rhino-Laryngology ·L TYNGKAN, Dwi Fajar Saputri, 詹雅兰, Alice Goldenberg, Jean‐Paul Marie	2021	6
7	Nephrotic syndrome and mitochondrial disorders: answers Pediatric Nephrology ·Julie Bernardor, L. E. Green, Krause Amanda, Corinne Antignac, Alice Goldenberg, Marie-Claire Gübler, Nicole Wagner, E. Bérard	2019	1
8	Implication of non-coding PAX6 mutations in aniridia Human Genetics ·Julie Plaisancié, Колесников А. М, Patrícia Locosque Ramos, Taye Hallock, Véronique Gaston, Hélène Dollfus, Giuseppe Gembillo, J.‐C. Kaplan, Lucas Fares‐Taie, Fiona Blanco‐Kelly, Cristina Villaverde, Christine Francannet, Alice Goldenberg, Ignacio Arroyo, Jean‐Michel Rozet, Carmen Ayuso, Nicolas Chassaing, Patrick Calvas, Marta Cortón	2018	34
9	IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences Clinical Genetics ·Elise Brischoux‐Boucher, Aurélien Trimouille, Geneviève Baujat, Alice Goldenberg, Élise Schaefer, Carmen Muñoz Muñiz, Bernardino (1590?-1666). Compositeur Vannini, Giovanna Paternoster, Sarah Baer, Christelle Cabrol, E. Weber, Ye. Matyakin G., Marion Lenoir, Didier Lacombe, Corinne Collet, Lionel Van Maldergem	2018	26
10	Lithium improved behavioral and epileptic symptoms in an adolescent with ring chromosome 20 and bipolar disorder not otherwise specified Clinical Case Reports ·Ana Pilipović, Boris Chaumette, Maryam Soleimani, Anne‐Marie Guerrot, Alice Goldenberg, Axel Lebas, Priscille Gérardin, Elton Carlos Ferreira	2018	6
11	Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene Acta Neuropathologica Communications ·Pascale Saugier-Véber, Florent Marguet, François Lecoquierre, Homa Adle‐Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, M. Brasseur‐Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière	2017	23
12	Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report American Journal of Medical Genetics Part A ·Florent Marguet, Annie Laquerrière, Alice Goldenberg, Anne‐Marie Guerrot, Olivier Quenez, Nedaa Al-Tawalbeh, Catherine Vanhulle, Yunjiao Zhang, Françoise Charbonnier, Myriam Vézain, Soumeya Bekri, Isabelle Tournier, Thierry Frébourg, Gaël Nicolas	2016	14
13	Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis The American Journal of Human Genetics ·Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne‐Marie Guerrot, Nedaa Al-Tawalbeh, 宗村郁子, Geneviève Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschké, Jean‐Laurent Casanova, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire	2012	84
14	Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume American Journal of Medical Genetics Part A ·Gaël Nicolas, Didier Devys, Alice Goldenberg, David Maltête, Catherine Hervé, Didier Hannequin, Lucie Guyant‐Maréchal	2011	43
15	Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype Acta Neuropathologica ·Magalie Lecourtois, Karine Poirier, Gaëlle Friocourt, Xavier H. Jaglin, Alice Goldenberg, Pascale Saugier-Véber, Jamel Chelly, Annie Laquerrière	2010	39
16	Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature Clinical Genetics ·Christophe Némos, Laëtitia Lambert, Fabienne Giuliano, Bérénice Doray, Yun-Ming Ma, Alice Goldenberg, B Delobel, Valérie Layet, T. J. Gebert, Daphne Houiller, Л. С. Оганесян, Philippe Jonveaux, Christophe Philippe	2009	83
17	MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations Journal of Medical Genetics ·Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, M Naham, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier-Véber, Thierry Frébourg, R Gitman, Joris Andrieux, Dominique Bonneau	2009	150
18	Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation European Journal of Human Genetics ·Pascale Saugier-Véber, Alice Goldenberg, Valérie Drouin‐Garraud, S.W. Song, Valérie Layet, Nathalie Drouot, Nathalie Le Meur, Brigitte Gilbert‐Dussardier, Géraldine Joly‐Hélas, Hélène Moirot, Annick Rossi, Mario Tosi, Thierry Frébourg	2006	27
19	Antenatal manifestations of Smith‐Lemli‐Opitz (RSH) syndrome: A retrospective survey of 30 cases American Journal of Medical Genetics Part A ·Alice Goldenberg, Claude Wolf, Françoise Chevy, Alexandra Benachi, Yves Dumez, Arnold Münnich, Valérie Cormier‐Daire	2003	32
20	Circonstances cliniques du diagnostic du syndrome de Smith-Lemli-Opitz et tentatives de corrélation phénotype-génotype : à propos de 45 cas Archives de Pédiatrie ·Alice Goldenberg, Françoise Chevy, C. Bernard, Claude Wolf, Valérie Cormier‐Daire	2003	16

About Alice Goldenberg

Alice Goldenberg is a scholar working on Developmental Biology, Genetics, Molecular Biology, Rheumatology and Pediatrics, Perinatology and Child Health, having authored 49 papers that have together received 1.1k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (12 papers), Genetics and Neurodevelopmental Disorders (6 papers), Genomics and Rare Diseases (5 papers), Congenital heart defects research (4 papers), RNA modifications and cancer (4 papers), Connective tissue disorders research (3 papers), Cholesterol and Lipid Metabolism (3 papers) and Cancer-related gene regulation (3 papers). The work is most often cited by research in Genetics (565 citations), Developmental Biology (36 citations), Molecular Biology (678 citations), Cellular and Molecular Neuroscience (124 citations) and Clinical Biochemistry (45 citations). Alice Goldenberg has collaborated with scholars based in France, United States and Italy. Frequent co-authors include Valérie Cormier‐Daire, Pascale Saugier-Véber, Arnold Münnich, Thierry Frébourg, Muriel Holder‐Espinasse, Geneviève Baujat, Joris Andrieux, Nathalie Le Meur, Valérie Layet and Stanislas Lyonnet. Their work appears in journals such as European Journal of Human Genetics, Human Mutation, Acta Neuropathologica Communications, Orphanet Journal of Rare Diseases and European Journal of Medical Genetics.

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.

Explore authors with similar magnitude of impact