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Isolated and syndromic forms of congenital anosmia

Clinical genetics, 2012-03, Vol.81 (3), p.210-215

2012

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Clinical genetics, 2012-09, Vol.82 (3), p.248-255

2012

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The first mutation in CNGA2 in two brothers with anosmia

Clinical genetics, 2015-09, Vol.88 (3), p.293-296

2015

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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Journal of medical genetics, 2008-11, Vol.45 (11), p.704-709

2008

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Genetic heterogeneity in Pakistani microcephaly families

Clinical genetics, 2013-05, Vol.83 (5), p.446-451

2013

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Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching

EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, Vol.26, p.60

2018

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Isolation and Fine Mapping of 16 Novel Human Zinc Finger-Encoding cDNAs Identify Putative Candidate Genes for Developmental and Malignant Disorders

Genomics (San Diego, Calif.), 1995-05, Vol.27 (2), p.259-264

1995

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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

Journal of medical genetics, 2005-04, Vol.42 (4), p.292-298

2005

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Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia

Leukemia, 2011-06, Vol.25 (6), p.1001-1006

2011

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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

Human molecular genetics, 1999-09, Vol.8 (9), p.1785-1789

1999

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LNA-modified oligonucleotides are highly efficient as FISH probes

Cytogenetic and genome research, 2004-01, Vol.107 (1-2), p.32-37

2004

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Genetic studies in congenital anterior midline cervical cleft

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.2021-2026

2012

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Sequence assembly

Computational biology and chemistry, 2009-04, Vol.33 (2), p.121-136

2009

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Breakpoints around the HOXD cluster result in various limb malformations

Journal of medical genetics, 2006-02, Vol.43 (2), p.111-118

2006

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Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins

FEBS letters, 1995-08, Vol.369 (2), p.153-157

1995

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Mowat-Wilson syndrome: an underdiagnosed syndrome?

Clinical genetics, 2008-06, Vol.73 (6), p.579-584

2008

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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

Journal of medical genetics, 2006-03, Vol.43 (3), p.225-231

2006

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Investigation of 4q-deletion in two unrelated patients using array CGH

American journal of medical genetics. Part A, 2008-09, Vol.146A (18), p.2431-2434

2008

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Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Journal of medical genetics, 2000-11, Vol.37 (11), p.858-865

2000

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Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

American journal of medical genetics, 2005-01, Vol.132A (3), p.324-328

2005

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

American journal of human genetics, 2007-11, Vol.81 (5), p.1057-1069

2007

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Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

Nature genetics, 1993-06, Vol.4 (2), p.170-174

1993

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Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

Clinical genetics, 2007-11, Vol.72 (5), p.464-470

2007

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Isolated and syndromic forms of congenital anosmia

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

The first mutation in CNGA2 in two brothers with anosmia

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Genetic heterogeneity in Pakistani microcephaly families

Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching

Isolation and Fine Mapping of 16 Novel Human Zinc Finger-Encoding cDNAs Identify Putative Candidate Genes for Developmental and Malignant Disorders

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia

A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

LNA-modified oligonucleotides are highly efficient as FISH probes

Genetic studies in congenital anterior midline cervical cleft

Sequence assembly

Breakpoints around the HOXD cluster result in various limb malformations

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Repression of transcriptional activity by heterologous KRAB domains present in zinc finger proteins

Mowat-Wilson syndrome: an underdiagnosed syndrome?

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

Investigation of 4q-deletion in two unrelated patients using array CGH

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

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