L. Burglen

发表

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Colin A. Johnson, M. Huynen, D. Birnbaum, 2017, Journal of Medical Genetics.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

W. Reardon, R. Touraine, A. Afenjar, 2017, Clinical genetics.

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.

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.

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation

S. Clemenceau, O. Delattre, C. Pouponnot, 2019, Acta Neuropathologica.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

E. Bertini, C. Garel, R. Touraine, 2012, Orphanet Journal of Rare Diseases.

A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

A. Munnich, J. Casanova, A. Abhyankar, 2014, Human mutation.

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.

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

C. Gicquel, V. Barbu, S. Cabrol, 2005, Nature Genetics.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

N. Drouot, A. Durr, M. Koenig, 2016, Journal of Neurology.

Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene

D. Rodriguez, P. Labauge, C. Denier, 2014, Journal of the Neurological Sciences.

Novel B3GALTL mutation in Peters‐plus Syndrome

P. Calvas, N. Chassaing, F. Malecaze, 2009, Clinical genetics.

Congenital immobility and stiffness related to biallelic ATAD1 variants

A. Afenjar, D. Rodriguez, T. Billette de Villemeur, 2020, Neurology: Genetics.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.

J. Weissenbach, J. McPherson, D. Le Paslier, 1994, American journal of human genetics.

Spectrum of epilepsy in terminal 1p36 deletion syndrome

A. Battaglia, A. Afenjar, A. Verloes, 2008, Epilepsia.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review

S. Marret, S. Bekri, L. Burglen, 2022, Journal of clinical medicine.

AP4 deficiency

F. Rivier, B. Echenne, R. Horvath, 2018, Neurology: Genetics.

Additional evidence for the vascular disruption defect hypothesis in a novel case of brainstem disconnection syndrome

C. Garel, D. Rodriguez, E. Blondiaux, 2022, Birth defects research.

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.

MFN2, a new gene responsible for mitochondrial DNA depletion.

P. Amati‐Bonneau, P. Reynier, D. Rodriguez, 2012, Brain : a journal of neurology.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

RELN and VLDLR mutations underlie two distinguishable clinico‐radiological phenotypes

C. Garel, A. Toutain, D. Rodriguez, 2016, Clinical genetics.

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

M. Bainbridge, I. Thiffault, A. Torkamani, 2022, Brain : a journal of neurology.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American journal of medical genetics. Part A.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

J. Lupski, Tadahiro Mitani, D. Calame, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Title: Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation

C. Garel, N. Boddaert, A. Laquérriere, 2022 .

Monoamine neurotransmitters and movement disorders in children and adults.

Marie-Christine Nouguès, M. Louha, T. Billette de Villemeur, 2018, Revue neurologique.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Colin A. Johnson, M. Huynen, S. Saunier, 2015, Nature Cell Biology.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

D. Horn, C. Garel, V. Narayanan, 2023, eLife.

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.

A. Munnich, O. Dulac, R. Nabbout, 2000, American journal of human genetics.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

A. Munnich, A. Durr, C. Orssaud, 2016, American journal of human genetics.

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Thomas Bourgeron, Fabien Fauchereau, Christopher Gillberg, 2007, Nature Genetics.

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

Alain Verloes, David Cohen, D. Cohen, 2005, Journal of autism and developmental disorders.

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

R. Delorme, C. Gillberg, M. Leboyer, 2009, Biological Psychiatry.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A. Afenjar, E. Pasmant, M. Vidaud, 2016, Journal of Medical Genetics.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

L. Richards, A. Barkovich, A. Afenjar, 2018, Neuron.

Growth charts in Kabuki syndrome 1

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

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Michael F. Wangler, J. Lupski, D. Krainc, 2021, Annals of neurology.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

J. Hehir-Kwa, B. D. de Vries, D. Baralle, 2020, American journal of human genetics.

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Z. Niu, Kristen Wigby, J. Friedman, 2022, Frontiers in Cell and Developmental Biology.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders : experience of two clinical units and 216 patients Running title : Medical exome and NDD

C. Depienne, A. Afenjar, D. Cohen, 2017 .

[Diagnostic investigations for an unexplained developmental disability].

A. Afenjar, A. Verloes, C. Baumann, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

D. Rodriguez, L. Villard, E. Apartis, 2015, Movement disorders : official journal of the Movement Disorder Society.

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.

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome

M. Vazquez, C. Gicquel, V. Gaston, 2001, European Journal of Human Genetics.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

J. Mosser, A. Toutain, A. Verloes, 2010, European journal of medical genetics.

Early neurological phenotype in 4 children with biallelic PRODH mutations

D. Campion, A. Afenjar, D. Rodriguez, 2007, Brain and Development.

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

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

First cryptic balanced reciprocal translocation mosaicism and familial transmission

A. Aboura, B. Benzacken, C. Dupont, 2008, American journal of medical genetics. Part A.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human 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.

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

A. Durr, A. Brice, G. Stevanin, 2015, Neurology.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

G. Captier, M. Vezain, J. Roume, 2022, American journal of medical genetics. Part A.

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

D. Le Paslier, D. Paslier, M. Zeviani, 1994, Science.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical genetics.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

N. Boddaert, F. Brunelle, D. Lacombe, 2012, Brain : a journal of neurology.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

K. Tory, N. Boddaert, R. Salomon, 2007, Journal of the American Society of Nephrology : JASN.

New insights into CC2D2A-related Joubert syndrome

F. Rivier, C. Garel, A. Afenjar, 2022, 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.

Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports

M. Vazquez, A. Picard, T. D. de Villemeur, 2012, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Early-onset or rapidly progressive scoliosis in children: check the eyes!

C. Korff, L. Merlini, A. Kaelin, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

E. Guillén-Navarro, L. Burglen, S. Whalen, 2015, Anales de pediatria.

High NPHP 1 and NPHP 6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis : Potential Epistatic Effect of NPHP 6 and AHI 1 Mutations in Patients with NPHP 1 Mutations

K. Tory, N. Boddaert, R. Salomon, 2007 .

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Isabella Moroni, John H Livingston, Odile Boespflug-Tanguy, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Finger creases lend a hand in Kabuki syndrome.

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

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation.

C. Garel, N. Boddaert, J. Baptista, 2022, American journal of human genetics.

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

S. Chantot-Bastaraud, J. Siffroi, E. Pipiras, 2004, Annales de genetique.

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

S. Julia, T. Félix, J. Chelly, 2020, Clinical genetics.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

Tumor-like enlargement of the optic chiasm in an infant with Alexander disease

L. Hertz-Pannier, D. Pham‐Dinh, D. Rodriguez, 2009, Brain and Development.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

A. Bayat, S. Srivastava, S. McKee, 2022, American journal of medical genetics. Part A.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

E. M. DeGennaro, Kiely N. James, Michael E. Coulter, 2020, Genetics in Medicine.

Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations

A. Afenjar, C. Barnérias, P. de Lonlay, 2010, Journal of Medical Genetics.

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

C. Garel, B. Funalot, F. Galactéros, 2021, American journal of hematology.

Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8

L. Cif, D. Devos, F. Zimprich, 2021, Annals of clinical and translational neurology.

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

C. Garel, A. Afenjar, A. Toutain, 2018, Genetics in Medicine.

Prenatal Imaging Findings of Pontine Tegmental Cap Dysplasia: Report of Four Cases

C. Garel, D. Rodriguez, E. Blondiaux, 2017, Fetal Diagnosis and Therapy.

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation

D. Lev, M. Lequin, E. Boltshauser, 2023, American Journal of Neuroradiology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Spectrum of brain malformations in fetuses with mild tubulinopathy

L. Ben‐Sira, D. Heron, B. Keren, 2022, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

M. Huynen, D. Birnbaum, J. Rivière, 2016, Human molecular genetics.

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum

M. Momtchilova, D. Heron, C. Mignot, 2013, Brain and Development.

Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Tunisian Boy

D. Rodriguez, K. Boussetta, W. Douira, 2009, Journal of Child Neurology.

Area Postrema Syndrome as the Initial Presentation of Alexander Disease

D. Rodriguez, F. Chalard, S. Valence, 2021, Neurology.

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

V. Narayanan, A. Afenjar, S. Skinner, 2023, medRxiv.

Clinical expression of Menkes disease in females with normal karyotype

Z. Tümer, T. Jensen, S. Janssens, 2012, Orphanet Journal of Rare Diseases.

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.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

N. Drouot, A. Durr, M. Koenig, 2013, Orphanet Journal of Rare Diseases.

Twenty‐five novel mutations including duplications in the ATP7A gene

A. Toutain, S. Blesson, C. Moraine, 2011, Clinical genetics.

[Postinfectious family case of acute necrotizing encephalopathy caused by RANBP2 gene mutation].

N. Girard, M. Milh, A. Cano, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

A. Verloes, V. Cormier-Daire, J. Carel, 2003, Journal of medical genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American Journal of Medical Genetics Part A.

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes

P. Fergelot, G. Stevanin, B. Desnous, 2023, Movement disorders : official journal of the Movement Disorder Society.

De novo deletions in spinal muscular atrophy: implications for genetic counselling.

J. Melki, L. Bürglen, L. Burglen, 1997, Journal of medical genetics.

SMN gene deletion in variant of infantile spinal muscular atrophy

A. Munnich, J. Melki, S. Lefebvre, 1995, The Lancet.

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

A. Leutenegger, S. Mazoyer, R. Bordonné, 2023, Proceedings of the National Academy of Sciences of the United States of America.

DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility

M. Stern, D. Stoppa-Lyonnet, B. Parfait, 2019, Human mutation.

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.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, Human Genetics.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

Twenty‐five novel mutations including duplications in the ATP7A gene

S. Blesson, C. Moraine, E. Bieth, 2011, Clinical genetics.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay

A. Durr, P. Convers, M. Koenig, 2015, Annals of neurology.

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

A. Munnich, J. Melki, S. Lefebvre, 1996, Journal of medical genetics.

Mutations in MAST1 cause mega-corpus-callosum with

Martin W. Breuss, A. Pagnamenta, D. Keays, 2019 .

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

V. Narayanan, A. Afenjar, T. Chou, 2023, American journal of human genetics.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

I. Scheffer, P. Striano, F. Alkuraya, 2023, European Journal of Human Genetics.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

David K. Wright, A. Sinclair, P. Kwan, 2023, Nature communications.

Growth charts in DYRK1A syndrome

A. Afenjar, A. Bayat, L. Pasquier, 2023, American journal of medical genetics. Part A.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation

S. Clemenceau, O. Delattre, C. Pouponnot, 2019, Acta Neuropathologica.

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome (vol 88, pg 499, 2011)

J. Graham, F. Müller, W. Dobyns, 2011 .