Nicole Philip

9.2k citations

72 papers · 3.0k indexed · 1 hit paper · h-index 24

Molecular Biology top 5%
Genetics top 1%
Epidemiology top 5%
Pulmonary and Respiratory Medicine top 5%
Surgery top 10%

Co-authors: Anne S. Bassett Ann Swillen Bruno Marino Jacob Vorstman Donna M. McDonald‐McGinn Kathleen E. Sullivan Peter Scambler Bernice E. Morrow
Topics: Congenital heart defects research (16 papers)Genetics and Neurodevelopmental Disorders (15 papers)Genomic variations and chromosomal abnormalities (14 papers)
Cited by: Genetics Molecular Biology Epidemiology
Journals: Nature Genetics The Journal of Clinical Endocrinology & Metabolism JNCI Journal of the National Cancer Institute
Partner nations: France United States Italy

In The Last Decade

Nicole Philip

71 papers receiving 2.9k citations

Hit Papers

align trajectories

Peers

Countries citing papers authored by Nicole Philip

Since Specialization

Citations

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

Fields of papers citing papers by Nicole Philip

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Nicole Philip

This figure shows the co-authorship network connecting the top 25 collaborators of Nicole Philip. A scholar is included among the top collaborators of Nicole Philip 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 Nicole Philip. Nicole Philip 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	The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability 2017 ·European Journal of Human Genetics ·(unknown),Tiffany Busa,Dominique P. Germain,Gwenaël Nadeau,Jacques Puechberty,Christine Coubes,Vincent Gâtinois,Pierre Cacciagli,Yannis Duffourd,Jean-Marc Pinard,(unknown),Laurent Villard,Damien Sanlaville,Nicole Philip,Chantal Missirian	22
2	Variable clinical expression in patients with mosaicism for KCNQ2 mutations 2015 ·American Journal of Medical Genetics Part A ·Mathieu Milh,Caroline Lacoste,Pierre Cacciagli,(unknown),(unknown),(unknown),Estelle Colin,Catherine Badens,Alexandra Afenjar,(unknown),(unknown),Gaëtan Lesca,Nicole Philip,Laurent Villard	38
3	Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins 2013 ·European Journal of Medical Genetics ·Cornel Popovici,Tiffany Busa,Chantal Missirian,Mathieu Milh,Anne Moncla,Nicole Philip	9
4	Novel PTEN germline mutation in a family with mild phenotype: Difficulties in genetic counseling 2012 ·Gene ·Tiffany Busa,B. Chabrol,(unknown),Michel Longy,Nicole Philip	9
5	Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients 2010 ·American Journal of Medical Genetics Part A ·Eleni Katzaki,Gilles Morin,Marzia Pollazzon,Filomena Tiziana Papa,Sabrina Buoni,Joussef Hayek,Joris Andrieux,Laure Lecerf,Cornel Popovici,Aline Receveur,Michèle Mathieu‐Dramard,Alessandra Renieri,Francesca Mari,Nicole Philip	19
6	Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1) 2010 ·European Journal of Human Genetics ·E. Schwinger,Koenraad Devriendt,Anita Rauch,Nicole Philip	6
7	TCF4Deletions in Pitt-Hopkins Syndrome 2008 ·Human Mutation ·Irina Giurgea,Chantal Missirian,Pierre Cacciagli,Sandra Whalen,Tessa Fredriksen,(unknown),Julia Rankin,Michèle Mathieu‐Dramard,G Morin,Dominique Martin‐Coignard,Christèle Dubourg,B. Chabrol,(unknown),Fabienne Giuliano,(unknown),Nicole Philip,Pierre Sarda,Laurent Villard,Michel Goossens,Anne Moncla	45
8	A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype 2007 ·Human Mutation ·Anne Moncla,Chantal Missirian,Pierre Cacciagli,(unknown),Laurence Legeai‐Mallet,Jean-Luc Jouve,B. Chabrol,Martine Le Merrer,Ghislaine Plessis,Laurent Villard,Nicole Philip	66
9	Behavioral and temperamental features of children with Costello syndrome 2006 ·American Journal of Medical Genetics Part A ·Cédric Galera,Marie‐Ange Delrue,Cyril Goizet,(unknown),(unknown),Sabine Sigaudy,Benoı̂t Arveiler,Nicole Philip,Manuel Bouvard,Didier Lacombe	20
10	Adams-Oliver Syndrome Associated with Cutis Marmorata Telangiectatica Congenita and Congenital Cataract: A Case Report 2006 ·American Journal of Perinatology ·(unknown),(unknown),D. Denis,Nicole Philip,Umberto Siméoni	18
11	Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma 2004 ·The American Journal of Human Genetics ·Delphine Trochet,Franck Bourdeaut,Isabelle Janoueix‐Lerosey,Anne Deville,Loïc de Pontual,Gudrun Schleiermacher,Carole Coze,Nicole Philip,Thierry Frébourg,Arnold Münnich,Stanislas Lyonnet,Olivier Delattre,Jeanne Amiel	235
12	Re: Familial multiple myeloma: A family study and review of the literature (multiple letters) 2002 ·JNCI Journal of the National Cancer Institute ·Hagay Sobol,Norbert Vey,R Sauvan,Nicole Philip,Tetsuro Noguchi,François Eisinger,Kari Hemminki,Henry T. Lynch,Warren G. Sanger,Samuel J. Pirruccello,(unknown),Dennis D. Weisenburger	8
13	Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome 2002 ·Prenatal Diagnosis ·(unknown),Sabine Sigaudy,Cécile Chau,Nicole Philip	22
14	Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures 2001 ·The American Journal of Human Genetics ·Jeanne Amiel,Yolanda Espinosa‐Parrilla,Julie Steffann,Philippe Gosset,Anna Pelet,Marguerite Prieur,Odile Boute,Agnès Choiset,Didier Lacombe,Nicole Philip,Martine Le Merrer,Hajime Tanaka,Marianne Till,Renaud Touraine,Annick Toutain,Michel Vekemans,Arnold Münnich,Stanislas Lyonnet	79
15	Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A 2000 ·European Journal of Human Genetics ·Rafaëlle Bernard,Véronique Labelle,(unknown),Sandrine Tardieu,Jean‐Philippe Azulay,Perrine Malzac,Jean-François Mattéi,Éric Leguern,Nicole Philip,Nicolas Lévy	3
16	Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients 1999 ·European Journal of Human Genetics ·Anne Moncla,Perrine Malzac,Marie‐Antoinette Voelckel,P. Auquier,(unknown),Marie‐Geneviève Mattéi,Nicole Philip,Jean-François Mattéi,Marc Lalande,Marie-Odile Livet	78
17	Identification of novelL1CAM mutations using fluorescence-assisted mismatch analysis 1998 ·Human Mutation ·Pascale Saugier-Véber,Cosette Martin,Nathalie Le Meur,Stanislas Lyonnet,Arnold Munnich,Albert David,(unknown),Delphine Héron,Philippe Jonveaux,Sylvie Odent,Sylvie Manouvrier,Anne Moncla,Nicole Morichon,Nicole Philip,Daniel Satgé,Mario Tosi,Thierry Frébourg	22
18	Walker-Warburg Syndrome: A Report of 3 Cases 1993 ·Ophthalmologica ·D. Denis,Danielle Gambarellï,(unknown),Ségolène Aymé,Nicole Philip,(unknown)	10
19	Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathy 1993 ·Pediatric Neurology ·Josette Mancini,Nicole Philip,B. Chabrol,P. Divry,Marie-Odile Rolland,N Pinsard	19
20	Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter Syndrome 1991 ·American Journal of Medical Genetics ·Marie‐Antoinette Voelckel,(unknown),(unknown),Catherine Nguyen,Irène Boccaccio,Nicole Philip,Jean-François Mattéi	3

About Nicole Philip

Nicole Philip is a scholar working on Genetics, Molecular Biology and Urology, having authored 72 papers that have together received 3.0k indexed citations. Recurring topics across this work include Congenital heart defects research (16 papers), Genetics and Neurodevelopmental Disorders (15 papers) and Genomic variations and chromosomal abnormalities (14 papers). The work is most often cited by research in Genetics (1.3k citations), Molecular Biology (2.1k citations) and Epidemiology (681 citations). Nicole Philip has collaborated with scholars based in France, United States and Italy. Frequent co-authors include Anne S. Bassett, Ann Swillen, Bruno Marino, Jacob Vorstman, Donna M. McDonald‐McGinn, Kathleen E. Sullivan, Peter Scambler, Bernice E. Morrow, Joris Vermeesch and Beverly S. Emanuel. Their work appears in journals such as Nature Genetics, The Journal of Clinical Endocrinology & Metabolism and JNCI Journal of the National Cancer Institute.

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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