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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1950-1955

2018

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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Journal of human genetics, 2021-04, Vol.66 (4), p.371-377

2021

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Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

BMC medical genetics, 2020-03, Vol.21 (1), p.64-64, Article 64

2020

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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Genome medicine, 2022-07, Vol.14 (1), p.79-11, Article 79

2022

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.552-559

2017

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Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

American journal of human genetics, 2007-02, Vol.80 (2), p.345-352

2007

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Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

Bone Reports, 2021-06, Vol.14, p.100738, Article 100738

2021

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Nature communications, 2015-09, Vol.6 (1), p.8086-8086, Article 8086

2015

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Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

BMC pediatrics, 2012-05, Vol.12 (1), p.48-48, Article 48

2012

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Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.658-681

2019

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Nature genetics, 2011-08, Vol.43 (8), p.729-731

2011

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1384-1395

2021

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Journal of medical genetics, 2018-02, Vol.55 (2), p.104-113

2018

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Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly

Journal of medical genetics, 2022-04, Vol.59 (4), p.358-365

2022

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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Journal of medical genetics, 2023-05, Vol.60 (5), p.505-510

2023

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Journal of medical genetics, 2013-05, Vol.50 (5), p.309-323

2013

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Pneumothorax in two siblings: Is there a genetic basis for recurrence?

The Journal of thoracic and cardiovascular surgery, 2009-04, Vol.137 (4), p.1021-1022

2009

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AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1228-1235

2021

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Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

Human mutation, 2018-10, Vol.39 (10), p.1360-1365

2018

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Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

American journal of human genetics, 2009-01, Vol.84 (1), p.80-84

2009

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Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2403-2408

2020

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A splice‐site variant in ANKRD11 associated with classical KBG syndrome

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2844-2846

2017

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Clinical utility gene card for: Cantú syndrome

European journal of human genetics : EJHG, 2017-04, Vol.25 (4), p.512-512

2017

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TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Mutations in phospholipase C eta-1 ( PLCH1 ) are associated with holoprosencephaly

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Dominant missense mutations in ABCC9 cause Cantú syndrome

Pneumothorax in two siblings: Is there a genetic basis for recurrence?

AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome

A splice‐site variant in ANKRD11 associated with classical KBG syndrome

Clinical utility gene card for: Cantú syndrome

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

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