List of works - Kwame Anyane-Yeboa

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

scientific article

A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.

scientific article

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

article

Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

scientific article published on February 1980

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

article

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

scientific article published on 20 November 2012

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

scientific article published in August 2017

Calcium ionophore-induced degradation of neurofilament and cell death in MSN neuroblastoma cells

scientific article published on 01 March 1998

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

scientific article published on 01 January 1993

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

article

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

scientific article published in June 2009

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

scientific article

Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome?

scientific article published on 01 July 1983

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study

scientific article published on 21 July 2014

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors

scientific article

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.

scientific article published on 19 February 2016

Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?

scientific article published on 01 January 2003

Cutis verticis gyrata in a patient with Noonan syndrome

scientific article published on 01 March 2005

DAX1 mutations map to putative structural domains in a deduced three-dimensional model

scientific article

De novo mutations in PURA are associated with hypotonia and developmental delay

scientific article

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

scientific article published on 20 December 2017

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

scientific article published on 13 March 2017

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

scientific article published on 11 March 2014

FTO variant associated with malformation syndrome

scientific article published on 24 December 2015

First-trimester transvaginal ultrasonographic diagnosis of Dandy-Walker malformation

scientific article published on 01 November 2001

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

scientific article published in February 1991

Hemoglobinopathy screening during early pregnancy

scientific article published on 01 May 1989

Herrmann-Opitz syndrome: report of an affected fetus.

scientific article published in June 1987

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

scientific article published on 05 October 2018

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease ty

scientific article published on 19 February 2002

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

scientific article published on 3 June 2019

Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation

scientific article published on 01 April 1987

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

scientific article published in February 2002

Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome

scientific article published on September 2008

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

scientific article published on 22 September 2017

Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa

scientific article published on 01 November 2001

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

scientific article published on 01 August 1995

Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings

scientific article published on 21 February 2014

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

scientific article

Molecular diagnostic dilemmas in Rett syndrome

scientific article

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

scientific article (publication date: 2000)

Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases

scientific article published on 01 June 1987

Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?

scientific article published on January 1991

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

scientific article published on 4 September 2012

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

scientific article published on 12 September 2013

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

scientific article published on 3 June 2015

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth

scientific article

Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia

scientific article published on 01 August 1988

Networks of attention in children with the 22q11 deletion syndrome

scientific article published on January 2004

Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis

scientific article published on February 2005

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

scientific article

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation

scientific article

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

scientific article published in December 2001

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

scientific article published on 29 July 2013

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

scientific article published on 01 October 2002

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation

scientific article

Phylloid terminal hair nevus: A unique clinical entity

scientific article published on 28 August 2018

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

scientific article

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

scientific article

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

Retinoblastoma presenting in a child with hypomelanosis of Ito.

scientific article

Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).

scientific article

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency

scientific article

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

scientific article published on 25 August 2013

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

scientific article published on 17 March 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

scientific article published on 08 July 2011

The usefulness of whole-exome sequencing in routine clinical practice

scientific article published on 5 June 2014

List of works by Kwame Anyane-Yeboa

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

Calcium ionophore-induced degradation of neurofilament and cell death in MSN neuroblastoma cells

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH

Cleft lip and palate, corneal opacities and profound psychomotor retardation. A newly recognized genetic syndrome?

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.

Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?

Cutis verticis gyrata in a patient with Noonan syndrome

DAX1 mutations map to putative structural domains in a deduced three-dimensional model

De novo mutations in PURA are associated with hypotonia and developmental delay

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

FTO variant associated with malformation syndrome

First-trimester transvaginal ultrasonographic diagnosis of Dandy-Walker malformation

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes.

Hemoglobinopathy screening during early pregnancy

Herrmann-Opitz syndrome: report of an affected fetus.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease ty

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

Molecular diagnostic dilemmas in Rett syndrome

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases

Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth

Myelomeningocele, Arnold-Chiari anomaly and hydrocephalus in focal dermal hypoplasia

Networks of attention in children with the 22q11 deletion syndrome

Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation

Phylloid terminal hair nevus: A unique clinical entity

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Retinoblastoma presenting in a child with hypomelanosis of Ito.

Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

The usefulness of whole-exome sequencing in routine clinical practice