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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2231-2237

2015

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A new acro-osteolysis syndrome caused by duplications including PTHLH

Journal of human genetics, 2014-09, Vol.59 (9), p.484-487

2014

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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Nature genetics, 1998-05, Vol.19 (1), p.70-73

1998

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1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.2004-2008

2018

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2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family

European journal of medical genetics, 2018-05, Vol.61 (5), p.273-279

2018

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

Journal of anatomy, 2024-05

2024

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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Journal of medical genetics, 2017-07, Vol.54 (7), p.479-488

2017

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STAR syndrome: a further case and the first report of maternal mosaicism

Clinical dysmorphology, 2017-07, Vol.26 (3), p.157-160

2017

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Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

European journal of human genetics : EJHG, 2010-12, Vol.18 (12), p.1310-1314

2010

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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

American journal of medical genetics. Part A, 2006-08, Vol.140A (16), p.1726-1736

2006

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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Nature communications, 2023-02, Vol.14 (1), p.853-11, Article 853

2023

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Kantaputra mesomelic dysplasia: A second reported family

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.6-11

2004

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Nature genetics, 2003-04, Vol.33 (4), p.487-491

2003

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Pseudoautosomal linkage of familial hodgkin's lymphoma: molecular analysis of a unique family with leri–weill dyschondrosteosis and hodgkins lymphoma

British journal of haematology, 2003-04, Vol.121 (2), p.377-379

2003

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Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726-1736)

American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2840-2840

2006

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Kantaputra type mesomelic dysplasia is associated with duplications of the locus on chromosome 2q

European journal of human genetics : EJHG, 2010-07

2010

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Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

Journal of medical genetics, 2000-12, Vol.37 (12), p.959-964

2000

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Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation

American journal of medical genetics, 2002-06, Vol.110 (2), p.153-157

2002

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2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family

European journal of medical genetics, 2018, Vol.61 (5), p.273-279

2018

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Kantaputra mesomelic dysplasia: A second reported family

American journal of medical genetics, 2004, Vol.128A (1), p.6-11

2004

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Assessing frailty in the intensive care unit: A reliability and validity study

Journal of critical care, 2018-06, Vol.45, p.197-203

2018

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O-Fucosylation of thrombospondin-like repeats is required for processing of microneme protein 2 and for efficient host cell invasion by Toxoplasma gondii tachyzoites

The Journal of biological chemistry, 2019-02, Vol.294 (6), p.1967-1983

2019

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HIV incidence among women using intramuscular depot medroxyprogesterone acetate, a copper intrauterine device, or a levonorgestrel implant for contraception: a randomised, multicentre, open-label trial

The Lancet (British edition), 2019-07, Vol.394 (10195), p.303-313

2019

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Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Clinical genetics, 2019-06, Vol.95 (6), p.693-703

2019

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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability

A new acro-osteolysis syndrome caused by duplications including PTHLH

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations

2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

STAR syndrome: a further case and the first report of maternal mosaicism

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Kantaputra mesomelic dysplasia: A second reported family

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Pseudoautosomal linkage of familial hodgkin's lymphoma: molecular analysis of a unique family with leri–weill dyschondrosteosis and hodgkins lymphoma

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726-1736)

Kantaputra type mesomelic dysplasia is associated with duplications of the locus on chromosome 2q

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation

2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family

Kantaputra mesomelic dysplasia: A second reported family

Assessing frailty in the intensive care unit: A reliability and validity study

O-Fucosylation of thrombospondin-like repeats is required for processing of microneme protein 2 and for efficient host cell invasion by Toxoplasma gondii tachyzoites

HIV incidence among women using intramuscular depot medroxyprogesterone acetate, a copper intrauterine device, or a levonorgestrel implant for contraception: a randomised, multicentre, open-label trial

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

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