N. Philip

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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

Peter J. Scambler, Lauren A. Bohm, Anne S. Bassett, 2015, Nature reviews. Disease primers.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

Laterality Preference and Cognition: Cross-Syndrome Comparison of Patients with Trisomy 21 (Down), del7q11.23 (Williams–Beuren) and del22q11.2 (DiGeorge or Velo-Cardio-Facial) Syndromes

V. Volterra, C. Deruelle, N. Philip, 2011, Behavior genetics.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Robert W. Mills, A J Agopian, Jonathan H. Chung, 2017, Circulation. Cardiovascular genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

N. Philip, P. Calvas, N. Lévy, 2019, Orphanet Journal of Rare Diseases.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Value of fetal skeletal radiographs in the diagnosis of fetal death

N. Philip, M. Panuel, P. Petit, 2003, European Radiology.

[Smith-Magenis syndrome].

L. Vallée, N. Philip, B. Delobel, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

N. Boddaert, A. Toutain, N. Philip, 2009, Archives of neurology.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Prenatal diagnosis of 22q11 microdeletion

N. Philip, C. Piquet, A. Levy-Mozziconacci, 1997, Prenatal diagnosis.

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

M. Gamerre, N. Philip, S. Sigaudy, 2010, European journal of medical genetics.

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

N. Philip, M. Rolland, P. Divry, 1993, Pediatric neurology.

Kelley–Seegmiller syndrome due to a new variant of the hypoxanthine–guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)

N. Philip, Y. Berland, B. Dussol, 2004, Journal of Inherited Metabolic Disease.

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

A. Fischer, N. Philip, J. Grosgeorge, 2003, Human mutation.

Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical genetics.

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

A. Afenjar, N. Philip, J. Thevenon, 2018, The Journal of clinical endocrinology and metabolism.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

E. Zackai, R. Gur, D. Heine-Suñer, 2018, American journal of medical genetics. Part A.

Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

A. Munnich, N. Philip, H. Van Esch, 2006, Clinical genetics.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

A J Agopian, E. Zackai, M. Owen, 2019, American journal of human genetics.

Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

A. Mégarbané, S. Julia, N. Philip, 2014, American journal of medical genetics. Part A.

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

N. Philip, M. Till, G. Lesca, 2011, American journal of medical genetics. Part A.

A normative chart for cognitive development in a genetically selected population

R. Kahn, R. Gur, T. van Amelsvoort, 2021, Neuropsychopharmacology.

Behavioral and temperamental features of children with Costello syndrome

M. Bouvard, N. Philip, D. Lacombe, 2006, American journal of medical genetics. Part A.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

Study of a family with a fragile site of the X chromosome at Xq27–28 without mental retardation

F. Birg, N. Philip, M. Mattei, 1989, Human Genetics.

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)

K. Devriendt, N. Philip, A. Rauch, 2010, European Journal of Human Genetics.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

N. Philip, N. Girard, H. Sobol, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

C. Marchal, A. Toutain, N. Philip, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

N. Philip, N. Lévy, P. Latour, 2002, European Journal of Human Genetics.

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

N. Philip, N. Lévy, S. Tardieu, 2000, European Journal of Human Genetics.

Tetra‐amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes

N. Philip, N. Lévy, J. Bonaventure, 2005, Clinical genetics.

Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

N. Philip, K. Chaumoitre, N. Panait, 2016, European journal of medical genetics.

Truncation of NHEJ1 in a patient with polymicrogyria

N. Philip, D. Figarella-Branger, S. Lindsay, 2007, Human mutation.

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology

N. Philip, S. Aymé, J. Guys, 1991, European Journal of Pediatrics.

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.

H. Lepidi, N. Philip, N. Lévy, 2016, International journal of cardiology.

Feasibility of fetal cardiac magnetic resonance imaging: preliminary experience

N. Philip, G. Gorincour, P. Petit, 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Screening for genetic disorders

N. Philip, 2003, Child's Nervous System.

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

P. Auquier, N. Philip, M. Mattei, 1999, European Journal of Human Genetics.

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation

F. Birg, N. Philip, M. Mattei, 1988, Human Genetics.

Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

N. Philip, S. Aymé, C. Julian‐Reynier, 1994, Journal of epidemiology and community health.

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

M. Fichera, C. Romano, N. Philip, 1999, Journal of medical genetics.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Physical mapping of an Xq-proximal interstitial duplication in a male

N. Philip, M. Mattei, A. Moncla, 1992, Human Genetics.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

N. Philip, B. Gilbert-Dussardier, F. Bilan, 2016, Prenatal diagnosis.

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score

N. Philip, N. Girard, B. Chabrol, 2017, Clinical dysmorphology.

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

N. Philip, L. Villard, A. Moncla, 2007, Human mutation.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

K. Devriendt, K. Sullivan, A. Bassett, 2011, The Journal of pediatrics.

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

N. Philip, A. Renieri, F. Mari, 2010, American journal of medical genetics. Part A.

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

N. Philip, C. Baumann, S. Odent, 2014, The Journal of clinical endocrinology and metabolism.

Fetal skeletal computed tomography: when? How? Why?

N. Philip, G. Gorincour, M. Panuel, 2014, Diagnostic and interventional imaging.

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia

N. Philip, S. Sigaudy, K. Nguyen, 2003, American journal of medical genetics. Part A.

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

N. Philip, A. Verloes, B. Gilbert-Dussardier, 1995, American journal of human genetics.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

N. Philip, N. Chassaing, F. Clauss, 2017, Clinical genetics.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

A. Munnich, E. Souied, N. Philip, 1994, Human molecular genetics.

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

A. Toutain, N. Philip, S. Aymé, 1998, American journal of medical genetics.

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

A. Munnich, N. Philip, D. Rimoin, 2003, Journal of medical genetics.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

N. Philip, B. Chabrol, S. Sigaudy, 1997, American journal of medical genetics.

New insights into genotype–phenotype correlation for GLI3 mutations

A. Munnich, A. Mégarbané, A. Afenjar, 2014, European Journal of Human Genetics.

Faculty Opinions recommendation of Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

N. Philip, 2012 .

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

N. Philip, M. Milh, A. Moncla, 2013, European journal of medical genetics.

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

A. Munnich, N. Philip, A. Verloes, 2011, European Journal of Human Genetics.

Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.

N. Philip, B. Chabrol, M. Longy, 2013, Gene.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

N. Philip, N. Lévy, F. Leturcq, 2022, Genes.

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

N. Philip, S. Aymé, 1996, American journal of medical genetics.

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome

N. Philip, M. Choux, A. Moncla, 1995, Clinical dysmorphology.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, O. Poch, N. Katsanis, 2010, Human Genetics.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.

Re: familial multiple myeloma: a family study and review of the literature.

N. Philip, H. Sobol, N. Vey, 2002, Journal of the National Cancer Institute.

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

N. Philip, W. Dobyns, R. Guerrini, 2003, Journal of medical genetics.

A novel homozygous MMP2 mutation in a family with Winchester syndrome

A Coussement, N. Philip, S. Bannwarth, 2006, Clinical genetics.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

N. Philip, M. Mattei, J. Pouget, 2005, Journal of Medical Genetics.

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

N. Prescott, P. Scambler, C. Roberts, 2003, Nature Genetics.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A. Green, P. Scambler, E. Hatchwell, 1997, Journal of medical genetics.

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

A. Munnich, O. Delattre, N. Philip, 2004, American journal of human genetics.

DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome

N. Philip, J. Mandel, M. Mattei, 2004, Human Genetics.

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

N. Philip, S. Sigaudy, F. Bretelle, 2019, American journal of medical genetics. Part A.

Putative Criteria for Predicting Spontaneous Regression of Prenatally Diagnosed Thoracoabdominal Cystic Lesions

N. Philip, G. Gorincour, P. de Lagausie, 2013, European Journal of Pediatric Surgery.

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

N. Philip, J. Guys, P. Malzac, 2000, American journal of medical genetics.

Cerebrofaciothoracic dysplasia: a new family.

N. Philip, S. Aymé, A. Moncla, 1992, Journal of medical genetics.

i(18q) IN AMNIOTIC AND FETAL CELLS WITH A NORMAL KARYOTYPE IN DIRECT CHORIONIC VILLUS SAMPLING: CYTOGENETICS AND PATHOLOGY

N. Philip, C. Piquet, A. Levy‐Mozziconacci, 1996, Prenatal Diagnosis.

Prevalence of 22q11 microdeletion.

S. Tezenas du Montcel, N. Philip, S. Aymé, 1996, Journal of medical genetics.

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

M. Mattéi, A. Aurias, N. Philip, 1995, Human molecular genetics.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

G. Gyapay, A. Smahi, C. Bodemer, 2017, Nature Medicine.

Génétique moléculaire du syndrome de Williams

N. Philip, 2001 .

Molecular and in silico analyses of the full‐length isoform of usherin identify new pathogenic alleles in Usher type II patients

A. Vielle, N. Philip, P. Calvas, 2007, Human mutation.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

J. Mosser, A. Toutain, N. Philip, 2011, European journal of medical genetics.

Fetoplacental chromosomal discrepancy

C. Farra, N. Philip, C. Piquet, 2000, Prenatal diagnosis.

Achondroplasia in sibs of normal parents.

N. Philip, M. Auger, J. Mattéi, 1988, Journal of medical genetics.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Digitalcommons@shu Speech-language Pathology Faculty Publications Speech-language Pathology Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and Digeorge Syndromes

A. Auton, T. Werge, E. Zackai, 2022 .

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

A. Bassett, N. Philip, Anne Bassett, 2011, Behavior genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

Possible homozygous Waardenburg syndrome in a fetus with exencephaly.

N. Philip, S. Aymé, S. Aymé, 1995, American journal of medical genetics.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

S. Julia, N. Philip, M. Till, 2015, Clinical genetics.

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

A. Baruchel, H. Cavé, N. Philip, 2010, Journal of Medical Genetics.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

John Wei, S. Scherer, E. Zackai, 2017, The American journal of psychiatry.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

M. Bauer, U. Kölsch, R. Krüger, 2015, Journal of Clinical Immunology.

CHARGE syndrome: report of 47 cases and review.

J L Michel, A. Munnich, N. Philip, 1998, American journal of medical genetics.

Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

N. Philip, N. Lévy, M. Bartoli, 2020, Molecular genetics & genomic medicine.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

S. Scherer, M. Owen, R. Gur, 2020, Nature Medicine.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Auxological Evaluation in Patients with a 22q11.2 Microdeletion Syndrome: Normal Prevalence of Obesity and Neonatal Length and Gender Influence on Body Mass Index Evolution

J. Gaudart, N. Philip, F. Giuliano, 2011, Hormone Research in Paediatrics.

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

N. Philip, A. Verloes, M. Gonzalès, 1991, Journal of medical genetics.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

T. van Amelsvoort, D. Campion, D. Hannequin, 2007, Human molecular genetics.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

N. Philip, S. Aymé, A. Selicorni, 1992, Clinical dysmorphology.

Costello syndrome and facio-cutaneous-skeletal syndrome.

N. Philip, J. Mancini, 1993, American journal of medical genetics.

Prenatal diagnosis of Fryns' syndrome

N. Philip, S. Aymé, J. Mattéi, 1992, Prenatal diagnosis.

Fryns syndrome: report on 8 new cases

N. Philip, S. Aymé, C. Julian, 1989, Clinical genetics.

Le syndrome de Smith-Magenis

L. Vallée, N. Philip, B. Delobel, 1997 .

[Decision-making in termination of pregnancy: a French perspective].

N. Philip, G. Gorincour, A. Payot, 2011, Gynecologie, obstetrique & fertilite.

Craniofacial anthropometric analysis in patients with 22q11 microdeletion.

L Guyot, N. Philip, M. Dubuc, 2001, American journal of medical genetics.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia

N. Philip, N. Girard, L. Villard, 2009, Journal of Medical Genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Whole ARX gene duplication is compatible with normal intellectual development

N. Philip, J. Andrieux, A. Moncla, 2014, American journal of medical genetics. Part A.

Constitutional balanced pericentric inversions of chromosomes X, 2, and 5 in myeloid malignancies.

D. Birnbaum, N. Philip, D. Blaise, 1998, Cancer genetics and cytogenetics.

Increased paternal age in CHARGE association

A. Munnich, N. Philip, D. Lacombe, 1996, Clinical genetics.

Is the locus for Costello syndrome on 11p?

N. Philip, B. Kerr, R. Elles, 2003, Journal of medical genetics.

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease

N. Philip, M. Milh, S. Zaffran, 2017, American journal of medical genetics. Part A.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

Martin S. Taylor, P. Scambler, I. Jackson, 2005, Nature Genetics.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Trevor J Pugh, L. Pennacchio, J. Priest, 2015, Human mutation.

Prenatal diagnosis of bowel malposition using T2-weighted fetal MRI sequences.

N. Philip, G. Gorincour, B. Guidicelli, 2016, Diagnostic and interventional imaging.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

[Hypocalcemia and microdeletion 22q11.2].

N. Philip, R. Reynaud, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

G. Thomas, A. Aurias, N. Philip, 1995, Human Genetics.

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

N. Philip, A. Verloes, D. Lacombe, 2020, Clinical genetics.

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

P Malzac, J F Mattei, N. Philip, 1999, Journal of medical genetics.

Wolf-Hirschhorn (4P-) syndrome in adults.

N. Philip, J. Fryns, F. Beemer, 2001, Genetic counseling.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

N. Philip, J. Mandel, J. Thevenon, 2016, American journal of medical genetics. Part A.

Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

N. Galjart, C. Catsman-Berrevoets, N. Philip, 2014, American journal of medical genetics. Part A.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

N. Philip, S. Sigaudy, C. Missirian, 2019, Clinical dysmorphology.

Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome

N. Philip, S. Sigaudy, M. Soulier, 2002, Prenatal diagnosis.

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

N. Philip, D. Lacombe, A. Moncla, 2000, European Journal of Pediatrics.

Is growth hormone treatment beneficial or harmful in Costello syndrome?

N. Philip, B. Kerr, P. Clayton, 2003, Journal of medical genetics.

Antenatal prognostic factor of fetal echogenic bowel.

N. Philip, A. Loundou, P. de Lagausie, 2017, European journal of obstetrics, gynecology, and reproductive biology.

Hypokalaemia and dysmorphia, is there a link?

N. Philip, S. Burtey, Y. Berland, 2009, NDT plus.

Oral-facial-digital syndrome with retinal abnormalities: report of a new case.

N. Philip, B. Chabrol, S. Sigaudy, 1996, American journal of medical genetics.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

Golder N Wilson, N. Philip, J. Fryns, 1994, European Journal of Pediatrics.

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

G. Bollini, N. Philip, M. Mattei, 2005, American journal of medical genetics. Part A.

Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome

R. Touraine, N. Philip, M. Jeraiby, 2017, American journal of medical genetics. Part A.

Monosomy 21: a new case confirmed by in situ hybridization

N. Philip, M. Mattei, J. Mattéi, 1987, Human Genetics.

Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations

N. Philip, M. Mattei, J. Mattéi, 1984, European Journal of Pediatrics.

Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

E. Calzolari, C. Petit, S. Blanchard, 1999, Human mutation.

Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?

N. Philip, G. Michel, M. Lemerrer, 1997, American journal of medical genetics.

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

J. Melki, N. Philip, P. Burlet, 1992, Journal of medical genetics.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

The Case: Hypocalcemia, chronic renal failure and dysmorphism.

N. Philip, S. Burtey, Y. Berland, 2008, Kidney international.

Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

N. Philip, D. Bonneau, F. Giuliano, 2004, American journal of medical genetics. Part A.

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.

N. Philip, I. Boccaccio, C. Piquet, 1991, American journal of medical genetics.

Renal and retinal involvement in the Sensenbrenner syndrome.

J. Sarles, N. Philip, M. Tsimaratos, 1998, American journal of medical genetics.

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

N. Philip, A. Moncla, C. Missirian, 2000, American journal of medical genetics.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

Goosecoid-like sequences and the smallest region of deletion overlap in DiGeorge and velocardiofacial syndromes.

A. Baldini, N. Philip, V. Jurecic, 1997, American journal of human genetics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

CHROMOSOMAL INSTABILITY IN TWO SIBLINGS WITH DUBOWITZ SYNDROME

N. Philip, G. Michel, Isabelle Thuret, 1991, British Journal of Haematology.

Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

N. Philip, P. Divry, B. Chabrol, 2001, Journal of Inherited Metabolic Disease.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment.

D. Grabli, A. Eusebio, N. Philip, 2017, Revue neurologique.

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

T. van Amelsvoort, D. Campion, N. Philip, 2007, Psychiatric genetics.

Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7 *

N. Philip, M. Mattei, J. Mattéi, 1985, Clinical genetics.

Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization

N. Philip, M. Mattei, J. Mattéi, 1988, Human Genetics.

H syndrome: novel and recurrent mutations in SLC29A3

N. Philip, A. Zlotogorski, V. Molho-Pessach, 2010, The British journal of dermatology.

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report

N. Philip, F. Poinso, C. Missirian, 2018, Journal of Medical Case Reports.

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA

N. Philip, N. Lévy, K. Maclean, 2009, Clinical genetics.

Comparison between direct clinical and digital photogrammetric measurements in patients with 22q11 microdeletion.

N. Philip, M. Dubuc, L. Guyot, 2003, International journal of oral and maxillofacial surgery.

Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

N. Philip, A. Moncla, J. Mattéi, 1995, Journal of medical genetics.

Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis

A. Munnich, N. Philip, N. Le Meur, 1998, Human mutation.

Fine‐Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation

N. Philip, S. Aymé, 1996, Clinical dysmorphology.

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

N. Philip, B. Giusiano, N. Lévy, 2004, Annales de genetique.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

A. Toutain, N. Philip, P. Jouk, 2023, BMC Health Services Research.

Parkinson ’ s disease associated with 22 q 11 . 2 deletion : Clinical characteristics and response to treatment

A. Eusebio, N. Philip, S. Drapier, 2017 .

A new three‐generational family with frontometaphyseal dysplasia, male‐to‐female transmission, and a previously reported FLNA mutation

N. Philip, F. Giuliano, J. Bardot, 2005, American journal of medical genetics. Part A.

French Professionals in Genetic Counselor Careers

N. Philip, H. Sobol, A. Pauw, 2013, Journal of Genetic Counseling.

Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

N. Philip, U. Simeoni, D. Denis, 2006, American journal of perinatology.

Treatment of Comorbid Bipolar Disorder Improves Disabilities and Neuropsychological Functioning in DiGeorge Syndrome: A Case Report.

N. Philip, J. Azorin, E. C. Ibrahim, 2017, Journal of clinical psychopharmacology.

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Kiely N. James, D. Horn, T. Wieland, 2018, Human Genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, NPJ Genomic Medicine.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families

N. Philip, N. Girard, M. Carlier, 2005, American journal of medical genetics. Part A.

The 22q11.2 deletion syndrome.

E. Zackai, N. Philip, B. Emanuel, 2001, Advances in pediatrics.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

A. Toutain, N. Philip, A. Moncla, 1998, American journal of medical genetics.

[Balanced chromosome rearrangements with abnormal phenotype].

N. Philip, M. Mattei, J. Mattéi, 1988, Journal de genetique humaine.

The acrocallosal syndrome

N. Philip, J. Mattéi, F. Giraud, 1988, European Journal of Pediatrics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

N. Galjart, C. Catsman-Berrevoets, N. Philip, 2014, American journal of medical genetics. Part A.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

N. Katsanis, A. Mégarbané, N. Philip, 2010, Human Genetics.

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

L. Lagae, L. Hertz-Pannier, F. Rivier, 2008, Journal of Medical Genetics.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

K. Devriendt, K. Sullivan, A. Bassett, 2011, The Journal of pediatrics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.