F. Giuliano

F. Giuliano, P. Saugier-Veber, O. Pincemaille, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

R. Touraine, N. Chassaing, P. Jouk, 2020, Human mutation.

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.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

TCF4 Deletions in Pitt‐Hopkins Syndrome

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

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

F. Giuliano, S. Rondeau, S. Marlin, 2020, European journal of medical genetics.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

New insights into genotype–phenotype correlation for GLI3 mutations

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

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty

F. Giuliano, P. Moceri, Y. Morel, 2019, Molecular genetics & genomic medicine.

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.

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly

F. Giuliano, M. Vekemans, A. Superti-Furga, 2021, American journal of medical genetics. Part A.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, 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.

Forefoot malformations, deformities and other congenital defects in children.

V. Rampal, F. Giuliano, 2020, Orthopaedics & traumatology, surgery & research : OTSR.

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

M. Koenig, R. Touraine, M. Claustres, 2017, Scientific Reports.

Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders

F. Giuliano, S. Amselem, A. Briand-Suleau, 2021, Molecular Psychiatry.

Growth charts in Kabuki syndrome 1

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

Mutations in SETD2 cause a novel overgrowth condition

R. Touraine, E. Pasmant, M. Vidaud, 2014, Journal of Medical Genetics.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

H. Mefford, A. Fry, D. Pilz, 2018, Brain : a journal of neurology.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Partial Xp11.23–p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization

M. Cossée, F. Giuliano, J. Lambert, 2008, American journal of medical genetics. Part A.

Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature

F. Giuliano, C. Philippe, P. Jonveaux, 2009, Clinical genetics.

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.

Delineation of a region responsible for panhypopituitarism in 20p11.2

F. Giuliano, J. Lambert, H. Karmous-Benailly, 2013, American journal of medical genetics. Part A.

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

TBC 1 D 24 genotype – phenotype correlation Epilepsies and other neurologic features

J. Rosenfeld, A. Pagnamenta, P. Verstreken, 2022 .

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

Acrocallosal syndrome in fetus: focus on additional brain abnormalities

C. Fallet-Bianco, D. Figarella-Branger, F. Giuliano, 2007, Acta Neuropathologica.

SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

F. Giuliano, A. Bloch-Zupan, S. Raskin, 2016, Journal of Medical Genetics.

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

A. Munnich, A. Saiardi, N. Boddaert, 2020, Nature Communications.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

C. López-Otín, R. Hennekam, A. Wagner, 2005, Human molecular genetics.

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

F. Giuliano, F. Escande, A. Dieux, 2020, Human mutation.

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.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

I. Gut, J. Melki, J. Maluenda, 2015, American journal of human genetics.

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.

Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity.

X. Jeunemaître, F. Giuliano, P. Moceri, 2013, Journal of the American College of Cardiology.

Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.

F. Giuliano, J. Lambert, H. Karmous-Benailly, 2006, European journal of medical genetics.

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.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males

L. Hertz-Pannier, R. Touraine, F. Giuliano, 2011, Clinical genetics.

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.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

O. Delattre, F. Giuliano, F. Bourdeaut, 2018, European Journal of Human Genetics.

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome

F. Giuliano, B. Leheup, D. Mowat, 2014, Clinical 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.

Finger creases lend a hand in Kabuki syndrome.

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

De novo 4q duplication/deletion in a fetus with a congenital heart defect

F. Giuliano, H. Karmous-Benailly, V. Paquis-Flucklinger, 2015, American journal of medical genetics. Part A.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

O. Delattre, F. Giuliano, F. Bourdeaut, 2018, European Journal of Human Genetics.

The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

C. Chiaverini, F. Giuliano, V. Doviner, 2010, Journal of dermatological science.

Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene

F. Giuliano, B. Delobel, B. Vialettes, 2005, Human mutation.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

S. Julia, A. Afenjar, A. Toutain, 2021, European Journal of Human Genetics.

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

R. Touraine, A. Verloes, B. Gilbert-Dussardier, 2019, Orphanet Journal of Rare Diseases.

Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion

C. Richelme, F. Giuliano, F. Askénazy, 2016, American journal of medical genetics. Part A.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

P. Fergelot, A. Mégarbané, N. Chassaing, 2016, Journal of Human Genetics.

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.

Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect

M. Stern, A. Afenjar, D. Stoppa-Lyonnet, 2019, Human mutation.

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study

F. Giuliano, P. Cintas, S. Quijano-roy, 2019, Neuromuscular Disorders.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome

P. Pennamen, D. Lacombe, F. Giuliano, 2020, Pigment cell & melanoma research.