A. Sarkozy

发表

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

D. Seripa, M. Digilio, B. Dallapiccola, 2003, Journal of medical genetics.

Neuromuscular disorders and 2010: recent advances

Hanns Lochmüller, A. Sarkozy, 2010, Journal of Neurology.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

Francesco Muntoni, Rahul Phadke, Heinz Jungbluth, 2018, Nature Reviews Neurology.

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

M. Digilio, B. Dallapiccola, A. Pizzuti, 2002, American journal of human genetics.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

M. Digilio, B. Gelb, B. Dallapiccola, 2009, Human mutation.

Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy

A. Mayhew, K. Bushby, V. Straub, 2016, Muscle & nerve.

Skeletal muscle involvement in cardiomyopathies

R. D'Alessandro, G. Limongelli, W. McKenna, 2013, Journal of cardiovascular medicine.

Role of 5-aminolevulinic acid in the diagnosis and treatment of superficial bladder cancer: improvement in diagnostic sensitivity.

C. De Nunzio, A. Sarkozy, F. Iori, 2001, Urology.

Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

K. Bushby, F. Muntoni, P. Jeannet, 2011, Human molecular genetics.

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies

K. Bushby, F. Muntoni, U. Jensen, 2012, Human mutation.

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Bjarne Udd, Ségolène Aymé, Ada Hamosh, 2018, Neuromuscular Disorders.

F. Muntoni, C. Bönnemann, A. Foley, 2020, Frontiers in Molecular Neuroscience.

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

K. Bushby, P. Chinnery, H. Lochmüller, 2011, Brain : a journal of neurology.

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.

M. Digilio, B. Dallapiccola, B. Marino, 2007, Journal of cardiovascular medicine.

Familial recurrence of congenital heart disease: an overview and review of the literature

M. Digilio, B. Dallapiccola, B. Marino, 2006, European Journal of Pediatrics.

CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system

M. Digilio, B. Dallapiccola, B. Marino, 2006, Journal of cardiovascular medicine.

Genotype-Phenotype Correlations in Noonan Syndrome

B. Marino, M. Digilio, B. Dallapiccola, 2009 .

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

M. Digilio, B. Dallapiccola, M. Tartaglia, 2009, European Journal of Human Genetics.

The Heart in Ras-MAPK Pathway Disorders

B. Marino, M. Digilio, B. Dallapiccola, 2009 .

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation

M. Digilio, A. Ugazio, B. Dallapiccola, 2008, American journal of medical genetics. Part A.

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

M. Digilio, B. Dallapiccola, A. Pizzuti, 2007, American journal of medical genetics. Part A.

Bisphosphonate use in Duchenne Muscular Dystrophy – why, when to start and when to stop?

K. Bushby, V. Straub, T. Cheetham, 2016 .

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

F. Muntoni, P. Munot, A. Manzur, 2016, Archives of Disease in Childhood.

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort

F. Muntoni, M. Scoto, P. Munot, 2022, Frontiers in Pediatrics.

Molecular analysis of PRKAG2, LAMP2, and NKX2‐5 genes in a cohort of 125 patients with accessory atrioventricular connection

Mauro W. Costa, R. Harvey, B. Dallapiccola, 2009, American journal of medical genetics. Part A.

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome

B. Dallapiccola, A. Pizzuti, R. Mingarelli, 2004, European Journal of Human Genetics.

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

G. Di Salvo, P. Elliott, M. Digilio, 2007, The American journal of cardiology.

Muscle MRI findings in limb girdle muscular dystrophy type 2L

K. Bushby, Hanns Lochmüller, R. Carlier, 2012, Neuromuscular Disorders.

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

E. Bertini, K. Bushby, A. D’Amico, 2010, Neuromuscular Disorders.

Dystrophinopathies and Limb-Girdle Muscular Dystrophies

F. Muntoni, M. Scoto, J. Domingos, 2017, Neuropediatrics.

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

M. Digilio, B. Dallapiccola, A. Pizzuti, 2004, Journal of Medical Genetics.

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings

F. Muntoni, C. Sewry, B. Linnane, 2022, Neuromuscular Disorders.

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

M. Digilio, B. Dallapiccola, G. Limongelli, 2006, European Journal of Pediatrics.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

C. Krarup, F. Muntoni, P. Ruben, 2015, Brain : a journal of neurology.

V. Ricotti, F. Muntoni, L. Servais, 2021, Muscle & nerve.

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

M. Main, F. Muntoni, A. Beggs, 2020, Annals of clinical and translational neurology.

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy

C. G. Tay, F. Muntoni, P. Munot, 2020, Chest.

Cardiorespiratory progression over 5 years and role of corticosteroids in DMD: a single site retrospective longitudinal study.

C. G. Tay, F. Muntoni, M. Burch, 2020, Chest.

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

K. Bushby, S. Al-Sarraj, M. Irving, 2011, Neuromuscular Disorders.

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

K. Bushby, F. Muntoni, A. Manzur, 2017, Neuromuscular Disorders.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

E. Mercuri, F. Muntoni, T. Pierson, 2021, Brain communications.

LEOPARD syndrome: Clinical diagnosis in the first year of life

B. Dallapiccola, G. Limongelli, R. Mingarelli, 2006, American journal of medical genetics. Part A.

Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome.

G. Di Salvo, B. Dallapiccola, G. Limongelli, 2008, Journal of prenatal medicine.

Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

G. Di Salvo, M. Digilio, B. Dallapiccola, 2008, American journal of medical genetics. Part A.

Leopard syndrome

M. Digilio, B. Dallapiccola, A. Sarkozy, 2008, Orphanet journal of rare diseases.

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

F. Brancati, B. Dallapiccola, A. Pizzuti, 2003, Journal of neurology, neurosurgery, and psychiatry.

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

B. Dallapiccola, R. Capolino, B. Marino, 2005, American journal of medical genetics. Part A.

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

F. Muntoni, J. U-King-im, I. Bodi, 2019, Neuromuscular Disorders.

Trisomy 18 and hypertrophy cardiomyopathy in an 18‐year‐old woman

M. Digilio, G. Limongelli, P. Calabrò, 2008, American Journal of Medical Genetics. Part A.

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2019, JCI insight.

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

B. Dallapiccola, A. Pizzuti, D. Gianni, 2003, Human mutation.

F. Muntoni, A. Manzur, M. Farrugia, 2018, Neuromuscular Disorders.

F. Muntoni, A. Manzur, M. Farrugia, 2018 .

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non‐syndromic atrioventricular canal defect

M. Digilio, B. Dallapiccola, A. Pizzuti, 2006, American journal of medical genetics. Part A.

Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man.

M. Digilio, B. Dallapiccola, R. Mingarelli, 2010, International journal of cardiology.

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

A. Need, M. Bleda, L. Moutsianas, 2022, Nature Communications.

Arrythmogenic Right Ventricular Dysplasia

Colin A. Johnson, T. Bourgeron, K. Lesch, 2016 .

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.

G. Di Salvo, M. Digilio, B. Dallapiccola, 2008, International journal of cardiology.

GGPS1 ‐associated muscular dystrophy with and without hearing loss

F. Muntoni, R. Maroofian, H. Houlden, 2022, Annals of clinical and translational neurology.

Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)

M. Digilio, B. Dallapiccola, R. Capolino, 2008, American journal of medical genetics. Part A.

Diffuse coronary dilation in a young patient with LEOPARD syndrome.

M. Digilio, B. Dallapiccola, G. Limongelli, 2006, International journal of cardiology.

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.

A. Pizzuti, N. Lindor, E. Conti, 2004, Journal of vascular surgery.

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

B. Dallapiccola, A. Pizzuti, G. Limongelli, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003 .

Growth pattern trajectories in boys with Duchenne muscular dystrophy

F. Muntoni, L. Servais, A. Manzur, 2022, Orphanet Journal of Rare Diseases.

Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1

M. Digilio, B. Dallapiccola, R. Capolino, 2005, American journal of medical genetics. Part A.

Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects

F. Muntoni, C. Sewry, E. Clement, 2021, Neuromuscular Disorders.

Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, American journal of medical genetics. Part A.

Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma'ayan, Wendy Schackwitz, 2009, Nature Genetics.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License Mutations in Gmppb Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies

K. Bushby, F. Muntoni, W. Yue, 2022 .

A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13

J. Féher, F. Brancati, E. Valente, 2004, Journal of Medical Genetics.

New aspects on patients affected by dysferlin deficient muscular dystrophy

K. Bushby, Hanns Lochmüller, V. Straub, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Two recurrent mutations are associated with GNE myopathy in the North of Britain

K. Bushby, P. Chinnery, Hanns Lochmüller, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Early clinical and pre-clinical therapy development in Nemaline myopathy

L. Servais, H. Jungbluth, J. Ochala, 2022, Expert opinion on therapeutic targets.

250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands

L. Servais, C. Bönnemann, A. Beggs, 2020, Neuromuscular Disorders.

F. van Petegem, N. Voermans, R. Dirksen, 2022, Journal of neuromuscular diseases.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

A. Battaglia, M. Digilio, B. Dallapiccola, 2005, American journal of human genetics.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

M. Zeviani, M. Pane, E. Mercuri, 2017, Human mutation.

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

K. Bushby, C. Bönnemann, Hanns Lochmüller, 2014, Human molecular genetics.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Michael J Ackerman, Wendy Schackwitz, Claudio Carta, 2007, Nature Genetics.

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Claudio Carta, Rosanna Weksberg, Bruno Dallapiccola, 2007, Human mutation.

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Wendy Schackwitz, Claudio Carta, Bruno Dallapiccola, 2006, Nature Genetics.

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

B. Gelb, B. Dallapiccola, A. Pizzuti, 2006, American journal of human genetics.

Hyperthrophic cardiomyopathy and the PTPN11 gene

C. Autore, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

A Novel PTPN11 mutation in LEOPARD syndrome

B. Dallapiccola, A. Pizzuti, E. Conti, 2003, Human mutation.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Ravi Iyengar, Avi Ma’ayan, Wendy Schackwitz, 2009 .

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

KBG syndrome in a cohort of Italian patients

M. Digilio, F. Brancati, B. Dallapiccola, 2004, American journal of medical genetics. Part A.

Orphanet Journal of Rare Diseases BioMed Central Review KBG syndrome

F. Brancati, B. Dallapiccola, A. Sarkozy, 2006 .

Costello syndrome: clinical diagnosis in the first year of life

M. Digilio, B. Dallapiccola, R. Capolino, 2008, European Journal of Pediatrics.

Orphanet Journal of Rare Diseases Kbg Syndrome Disease Name and Synonyms Definition and Diagnostic Criteria

F. Brancati, B. Dallapiccola, A. Sarkozy, 2022 .

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

Familial transposition of the great arteries caused by multiple mutations in laterality genes

M. Digilio, B. Dallapiccola, V. Guida, 2009, Heart.

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

B. Marino, B. Dallapiccola, F. Consoli, 2011, Clinical genetics.

Ablepharon‐macrostomia syndrome in a 46‐year‐old woman

F. Brancati, B. Dallapiccola, R. Mingarelli, 2004, American journal of medical genetics. Part A.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Chapter 125 – Muscular Dystrophies

K. Bushby, A. Sarkozy, Kate Bushby, 2013 .

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

M. Main, F. Muntoni, D. Ridout, 2020, Annals of clinical and translational neurology.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

K. Bushby, F. Muntoni, Hanns Lochmüller, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

A. Sarkozy, R. Phadke, Schaida Schirwani, 2020, Neuromuscular Disorders.

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

B. Dallapiccola, R. Capolino, E. Conti, 2005, American journal of medical genetics. Part A.

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

T. Mazza, M. Digilio, B. Dallapiccola, 2018, Human mutation.

Familial Recurrence Risks of Congenital Heart Defects

M. Digilio, B. Dallapiccola, R. Capolino, 2007 .

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, European Journal of Human Genetics.

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

F. Brancati, B. Dallapiccola, R. Mingarelli, 2002, American journal of medical genetics.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

K. Bushby, F. Muntoni, A. Schapira, 2013, Human mutation.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis

Hanns Lochmüller, F. Dubas, A. Sarkozy, 2012, Journal of Neurology.

263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022

J. Bourke, A. Ferlini, R. Quinlivan, 2023, Neuromuscular Disorders.

Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

J. Kaski, A. Sarkozy, E. Field, 2019, European heart journal. Case reports.

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

M. Copetti, M. Digilio, B. Dallapiccola, 2012, European Journal of Human Genetics.

Andersen disease

Colin A. Johnson, T. Bourgeron, K. Lesch, 2019 .

Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis

K. Bushby, Hanns Lochmüller, S. Laval, 2013, PLoS currents.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

K. Bushby, S. Kiuru-Enari, V. Straub, 2015, Neuromuscular Disorders.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

F. Muntoni, Silvio Alessandro Di Gioia, A. O’Donnell-Luria, 2022, Human mutation.

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, Journal of Medical Genetics.

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

Sachit Shah, G. Baranello, J. Morrow, 2023, Annals of clinical and translational neurology.

Feeding difficulties in children and adolescents with spinal muscular atrophy type 2

M. Main, F. Muntoni, M. Scoto, 2020, Neuromuscular Disorders.

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

K. Bushby, H. Lochmüller, C. Windpassinger, 2011, European Journal of Human Genetics.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

F. Muntoni, Jacqueline A Palace, J. Holton, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands

H. Smeets, M. Ruegg, N. Voermans, 2021, Neuromuscular Disorders.

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

K. Bushby, P. Chinnery, Hanns Lochmüller, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Adenomatous Polyposis, Familial

Colin A. Johnson, T. Bourgeron, K. Lesch, 2009 .

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Acute colonic pseudo‐obstruction

T. Bourgeron, J. Sznajder, E. Viding, 1992, The British journal of surgery.

Aromatic L-amino acid decarboxylase deficiency

T. Bourgeron, K. Lesch, J. Sznajder, 2020, Definitions.

Leopard syndrome

M. Digilio, B. Dallapiccola, A. Sarkozy, 2008, Orphanet journal of rare diseases.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

F. Muntoni, Jacqueline A Palace, J. Holton, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Andersen-Tawil syndrome

E. Viding, G. Kojda, M. Digilio, 2020, Definitions.

Neuromuscular disease genetics in under-represented populations: increasing data diversity

K. Thangaraj, P. Chinnery, S. Efthymiou, 2023, Brain : a journal of neurology.

Androgen insensitivity syndrome.

T. Bourgeron, E. Viding, G. Kojda, 2019, Bailliere's clinical endocrinology and metabolism.

Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys

A. Manzur, A. Sarkozy, E. Milev, 2023, Journal of neuromuscular diseases.

Chapter 125 – Muscular Dystrophies

A. Sarkozy, Kate Bushby, 2013 .

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Beryl B. Cummings, Kristen M. Laricchia, A. O’Donnell-Luria, 2024, Nature genetics.