List of works - Sarina G. Kant

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

scientific article published on 14 September 2015

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

scientific article published on 18 May 2006

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

scientific article published on 13 May 2009

Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis

scientific article published on 01 May 2019

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

scientific article published on 17 June 2016

Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height

scientific article published on 22 May 2018

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

scientific article published in January 2012

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Copy number variants in patients with short stature.

scientific article published on 25 September 2013

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

scientific article published on 14 May 2015

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 19 August 2020

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

scientific article published on 01 September 2019

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

scientific article published in May 2009

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

scientific article published on 12 June 2020

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

scientific article

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

scientific article published on 8 December 2018

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

scientific article published on 19 January 2012

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

scientific article published on 7 November 2013

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

scientific article

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

scientific article

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

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

scientific article published on 13 June 2022

Genome-wide SNP array analysis in patients with features of sotos syndrome

scientific article

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

scientific article

Genotype-phenotype correlation in patients suspected of having Sotos syndrome

scientific article published on 24 September 2004

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

scientific article

Interstitial duplication in the proximal long arm of chromosome 16

scientific article published on 01 July 2010

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

scientific article

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

scientific article

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

scientific article published on 01 January 2020

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Molecular and clinical characterization of patients with a ring chromosome 11 ⬇️

scientific article published on August 23, 2012

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

scientific article

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

scientific article

Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects

scientific article published on 28 April 2020

Overgrowth syndromes:from classical to new.

scientific article published on March 2009

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

scientific article published on 16 July 2019

Phelan-McDermid syndrome: clinical report of a 70-year-old woman

scientific article published on 19 November 2012

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

scientific article published on 01 August 2019

Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region

scientific article published on 19 February 2013

RNF135 mutations are not present in patients with Sotos syndrome-like features

scientific article published in February 2009

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

scientific article published on 7 June 2017

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification

scientific article published on 18 March 2008

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy

scientific article published on 25 November 2019

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

article

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

scientific article published on 13 November 2019

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 Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

scientific article published on 21 December 2016

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

scientific article published on 10 November 2010

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

scientific article

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation ⬇️

scientific article published on May 23, 2011

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome

scientific article published in May 2018

List of works by Sarina G. Kant

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Copy number variants in patients with short stature.

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

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

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Genome-wide SNP array analysis in patients with features of sotos syndrome

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Genotype-phenotype correlation in patients suspected of having Sotos syndrome

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Interstitial duplication in the proximal long arm of chromosome 16

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Molecular and clinical characterization of patients with a ring chromosome 11 ⬇️

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects

Overgrowth syndromes:from classical to new.

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

Phelan-McDermid syndrome: clinical report of a 70-year-old woman

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region

RNF135 mutations are not present in patients with Sotos syndrome-like features

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy

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

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

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

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation ⬇️

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome