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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Nature genetics, 2007-09, Vol.39 (9), p.1120-1126

2007

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Chromosome instability is common in human cleavage-stage embryos

Nature medicine, 2009-05, Vol.15 (5), p.577-583

2009

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

American journal of human genetics, 2005-09, Vol.77 (3), p.442-453

2005

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Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss

Prenatal diagnosis, 2012-10, Vol.32 (10), p.933-942

2012

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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Human mutation, 2011-10, Vol.32 (10), p.1114-1117

2011

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Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

Human mutation, 2011-07, Vol.32 (7), p.783-793

2011

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Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls

Genetics in medicine, 2009-09, Vol.11 (9), p.646-654

2009

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.370-377

2006

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Pfeiffer syndrome

Orphanet journal of rare diseases, 2006-06, Vol.1 (1), p.19-19, Article 19

2006

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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Human mutation, 2007-10, Vol.28 (10), p.1034-1042

2007

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.894-905

2009

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Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

American journal of human genetics, 2003-06, Vol.72 (6), p.1470-1478

2003

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

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Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Genome Research, 2008-06, Vol.18 (6), p.847-858

2008

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Narrowing the critical deletion region for autism spectrum disorders on 16p11.2

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-03, Vol.156B (2), p.243-245

2011

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Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.1947-1952

2014

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High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

American journal of human genetics, 2004-07, Vol.75 (1), p.97-105

2004

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Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

Genes chromosomes & cancer, 2010-03, Vol.49 (3), p.242-252

2010

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Nature genetics, 2001-03, Vol.27 (3), p.313-317

2001

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Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

Prenatal diagnosis, 2010-12, Vol.30 (12-13), p.1198-1206

2010

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Prader-Willi syndrome: Causes of death in an international series of 27 cases

American journal of medical genetics, 2004-02, Vol.124A (4), p.333-338

2004

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Subtelomeric imbalances in phenotypically normal individuals

Human mutation, 2007-10, Vol.28 (10), p.958-967

2007

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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Chromosome instability is common in human cleavage-stage embryos

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Pfeiffer syndrome

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

Prader-Willi syndrome: Causes of death in an international series of 27 cases

Subtelomeric imbalances in phenotypically normal individuals

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