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The evolving therapeutic landscape of genetic skeletal disorders

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.300-300, Article 300

2019

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Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing

Genetics in medicine, 2022-04, Vol.24 (4), p.811-820

2022

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Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

Clinical dysmorphology, 2022-04, Vol.31 (2), p.84

2022

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Influence of autozygosity on common disease risk across the phenotypic spectrum

Cell, 2023-10, Vol.186 (21), p.4514-4527.e14

2023

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Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation

Frontiers in endocrinology (Lausanne), 2023-10, Vol.14

2023

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Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.73-82

2021

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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

BMC medical genomics, 2021-06, Vol.14 (1), p.148-148, Article 148

2021

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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1377-1383

2021

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A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant

Clinical dysmorphology, 2021-04, Vol.30 (2), p.115

2021

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KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant

Clinical dysmorphology, 2021-07, Vol.30 (3), p.142

2021

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Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases

British medical bulletin, 2021-09, Vol.139 (1), p.16-35

2021

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Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication

Clinical dysmorphology, 2024-01, Vol.33 (1), p.31

2024

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Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome

Journal of the American Society of Nephrology, 2017-03, Vol.28 (3), p.963-970

2017

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Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty

Clinical dysmorphology, 2019-10, Vol.28 (4), p.224

2019

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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

American journal of human genetics, 2021-01, Vol.108 (1), p.115-133

2021

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Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

Clinical genetics, 2021-09, Vol.100 (3), p.292-297

2021

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A novel variant in the PTPN11 gene c.1277A>G p.(His426Arg) in a patient with Noonan Syndrome with Multiple Lentigines

Clinical and experimental dermatology, 2024-04

2024

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Growth reference charts for children with hypochondroplasia

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.243-252

2024

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Hip displacement in Wolf–Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1449-1453

2020

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Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement

BMJ case reports, 2021-03, Vol.14 (3), p.e236768

2021

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in medicine, 2023-01, Vol.25 (1), p.37-48

2023

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Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

American journal of medical genetics. Part A, 2021-02, Vol.185 (2), p.517-527

2021

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The evolving therapeutic landscape of genetic skeletal disorders

Automated reanalysis application to assist in detecting novel gene–disease associations after genome sequencing

Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?

Influence of autozygosity on common disease risk across the phenotypic spectrum

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation

Earlier detection of hypochondroplasia: A large single‐center UK case series and systematic review

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant

Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases

Moyamoya disease/cerebral vasculopathy in osteopathia striata with cranial sclerosis: a rare but important complication

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Isolated‐ and Beckwith‐Wiedemann syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals

A novel variant in the PTPN11 gene c.1277A>G p.(His426Arg) in a patient with Noonan Syndrome with Multiple Lentigines

Growth reference charts for children with hypochondroplasia

Hip displacement in Wolf–Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia: ASTUTI et al

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