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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

Human mutation, 2018-01, Vol.39 (1), p.152-166

2018

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Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

American journal of human genetics, 2012-04, Vol.90 (4), p.746-751

2012

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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Nature genetics, 2008-08, Vol.40 (8), p.999-1003

2008

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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

American journal of human genetics, 2009-03, Vol.84 (3), p.307-315

2009

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Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

American journal of human genetics, 2012-03, Vol.90 (3), p.550-557

2012

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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

Frontiers in genetics, 2023-06, Vol.14, p.1174046

2023

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MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2415-2421

2017

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Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

EBioMedicine, 2020-12, Vol.62, p.103075-103075, Article 103075

2020

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Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

Skeletal radiology, 2014-03, Vol.43 (3), p.359-369

2014

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A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2470-2473

2015

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The Erlenmeyer flask bone deformity in the skeletal dysplasias

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1334-1345

2009

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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Genetics in medicine, 2009-02, Vol.11 (2), p.127-133

2009

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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

Human molecular genetics, 2016-09, Vol.25 (18), p.4012-4020

2016

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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

Nature communications, 2015-06, Vol.6 (1), p.7092-7092, Article 7092

2015

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Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2776-2781

2021

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Early characteristic radiographic changes in mucolipidosis II

Pediatric radiology, 2016-11, Vol.46 (12), p.1713-1720

2016

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Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006)

American journal of medical genetics. Part A, 2007-06, Vol.143A (11), p.1159-1168

2007

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Nature genetics, 1995-03, Vol.9 (3), p.321-328

1995

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Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz

Pediatric radiology, 2012-04, Vol.42 (4), p.475-480

2012

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A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Scientific reports, 2017-02, Vol.7 (1), p.41803-41803, Article 41803

2017

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A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

Journal of clinical research in pediatric endocrinology, 2011-12, Vol.3 (4), p.163-178

2011

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A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

American journal of human genetics, 2009-01, Vol.84 (1), p.72-79

2009

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The skeletal dysplasias: clinical-molecular correlations

Annals of the New York Academy of Sciences, 2007-11, Vol.1117 (1), p.302-309

2007

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The world and medical genetics has lost a great "man for all seasons." Early in the morning of May 27, 2012

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2391-2392

Lachman, Ralph S.

2012

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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

The Erlenmeyer flask bone deformity in the skeletal dysplasias

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia

Early characteristic radiographic changes in mucolipidosis II

Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006)

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

The skeletal dysplasias: clinical-molecular correlations

The world and medical genetics has lost a great "man for all seasons." Early in the morning of May 27, 2012

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