List of works - Charlotte W Ockeloen

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)

scientific article published in July 2013

Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities

scientific article published on 12 May 2017

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

scientific article

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

scientific article

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

scientific article published on 6 December 2011

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

scientific article published on September 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

scientific article published on 17 May 2017

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

scientific article published on 26 July 2017

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.

scientific article published on 19 December 2017

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation

scientific article published on 19 March 2016

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

scientific article published on 10 March 2016

NovelBCORmutations in patients with oculofaciocardiodental (OFCD) syndrome

scientific article published on 5 April 2013

Oral application of bacterial lysate in infancy decreases the risk of atopic dermatitis in children with 1 atopic parent in a randomized, placebo-controlled trial

scientific article published in April 2012

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

scientific article published on 16 January 2013

Primary Cataract as a Key to Recognition of Myotonic Dystrophy Type 1

scientific article published on 25 May 2015

Quantum metrology with a scanning probe atom interferometer

scientific article published on 3 October 2013

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

scientific article published on 8 December 2010

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

scientific article published on April 2015

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

scientific article published on January 2010

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

scientific article

Tooth agenesis and orofacial clefting: genetic brothers in arms?

scientific article

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome

scientific article published in July 2010

Variability in dentofacial phenotypes in four families with WNT10A mutations

scientific article

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

scientific article published on 21 October 2013

[Solitary median maxillary central incisor syndrome]

scientific article published in September 2014

[Tooth eruption disturbances and syndromes]

scientific article published in April 2014

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

scientific article published on 12 August 2015

List of works by Charlotte W Ockeloen

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)

Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study.

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

NovelBCORmutations in patients with oculofaciocardiodental (OFCD) syndrome

Oral application of bacterial lysate in infancy decreases the risk of atopic dermatitis in children with 1 atopic parent in a randomized, placebo-controlled trial

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Primary Cataract as a Key to Recognition of Myotonic Dystrophy Type 1

Quantum metrology with a scanning probe atom interferometer

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome

Variability in dentofacial phenotypes in four families with WNT10A mutations

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

[Solitary median maxillary central incisor syndrome]

[Tooth eruption disturbances and syndromes]

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes