List of works - Robert Smigiel

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

scientific article published on 6 January 2015

A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature.

scientific article published on October 2013

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism

scientific article published on July 1, 2012

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

scientific article published on 09 September 2016

A pro-inflammatory phenotype is associated with behavioural traits in children with Prader-Willi syndrome

scientific article published on 03 June 2020

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

scientific article published on 18 March 2016

Bladder agenesis in a male neonate

scientific article published on 01 November 2008

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

scientific article published on 02 November 2020

CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy

scientific article published on 17 February 2020

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

scientific article published on 01 October 2019

Chromosome aberrations and gene mutations in patients with esophageal atresia.

scientific article published on December 2013

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

scientific article published in October 2008

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

scientific article published on 12 May 2021

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

scientific article published on 11 April 2011

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)

scientific article published on January 1, 2012

Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life

scientific article published on 10 April 2018

Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer.

scientific article published on March 2004

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

scientific article published in November 2006

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

scientific article published on 15 March 2019

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

scientific article published on 13 June 2018

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

article

Erratum to: Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

scientific article published on 17 June 2012

Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

scientific article

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

article

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

scientific article

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

scientific article published on 14 September 2016

Giant heart tumors in infants leading to sudden, unexpected death: Description of two cases ⬇️

scientific article published on 01 December 2011

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

scientific article published on 21 January 2015

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

article

Hypercalciuria in a child with acral peeling skin syndrome: a case report

scientific article published in January 2015

Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx.

scientific article published in March 2004

LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus

scientific article published on 01 February 2016

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

scientific article published on 25 May 2018

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

article

Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter

scientific article published on 01 January 2007

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

scientific article published on 4 December 2015

Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation

scientific article published on 14 February 2020

Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia

scientific article published on 21 August 2020

Migraine and Stroke: What's the Link? What to Do?

scientific article published on March 2017

Mowat-Wilson syndrome: growth charts

scientific article published on 15 June 2020

Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology

scientific article published on 01 April 2011

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

scientific article published on 01 January 2020

Mutation update for the PORCN gene.

scientific article published on 21 June 2011

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

scientific article

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

scientific article

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

article

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.

scientific article

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

scientific article published on 12 November 2013

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome

scientific article published on May 2010

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

scientific article published on 12 November 2014

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

scientific article published on 31 January 2018

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene

scientific article published on 24 July 2020

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

article

Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population

scientific article published on 01 February 2020

Prenatal clinical manifestations in individuals with COL4A1/2 variants

scientific article published on 30 July 2020

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

scientific article published on December 1, 2010

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

scientific article published on 13 July 2020

Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

scientific article published in September 2015

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

scientific article published on 19 December 2019

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

scientific article published on 13 April 2020

Single nucleotide polymorphisms in theRET gene and their correlations with Hirschsprung disease phenotype

article

Skin conductance measurement for the assessment of analgosedation adequacy in infants treated with mechanical ventilation: A multicenter pilot study

scientific article published on 16 September 2020

Somatic mosaicism in esophageal atresia

scientific article published in December 2014

Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue

scientific article published on 01 September 2004

The Impact of Congenital Esophageal Atresia on the Family Functioning

scientific article published on 23 April 2019

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem

scientific article published on 14 November 2007

The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy

scientific article published on 01 January 2005

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 24 December 2019

[Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]

scientific article published on 01 October 2006

[Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report]

scientific article published on 01 November 2009

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

scientific article published on 01 April 2009

[Contemporary opinions on pathogenesis, genetics and clinical picture of laterality disorders - left-right axis development defects]

scientific article published on 01 October 2009

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data]

scientific article published on 01 April 2012

[Difficult therapeutic decision making in treatment of children with oesophageal atresia and trisomy of chromosome 18 - comments by geneticist, surgeon, neonatologist, paediatrician and anaesthesiologist]

scientific article published on 01 January 2011

[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]

scientific article published on 01 February 2005

[Isolated and syndromic forms of oesophageal atresia - genetic aspects and counselling]

scientific article published on 01 January 2009

[Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation]

scientific article published on 01 January 2009

[Perinatal palliative care performed in obstetrics and neonatology wards and hospices for children - own experience]

scientific article published on 01 January 2019

[Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis]

scientific article published on 01 January 2014

[Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis]

scientific article published on 01 December 2007

[Tetany as a frequent cause of an emergency consultations--etiology, symptoms and cure].

scientific article

[The role of genetic and environmental factors in the etiology of esophageal atresia and tracheo-esophageal fistula]

scientific article published on 07 March 2014

[The role of ret gene in the pathogenesis of Hirschsprung disease]

scientific article published on 01 July 2004

List of works by Robert Smigiel

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.

A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature.

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

A pro-inflammatory phenotype is associated with behavioural traits in children with Prader-Willi syndrome

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Application of Array Comparative Genomic Hybridization in Newborns with Multiple Congenital Anomalies

Bladder agenesis in a male neonate

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Chromosome aberrations and gene mutations in patients with esophageal atresia.

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)

Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life

Correlation among loss of heterozygosity, promoter methylation and protein expression of MLH1 in larynx cancer.

Cyclin D1 and MLH1 levels in laryngeal cancer are linked to chromosomal imbalance.

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Erratum to: Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Giant heart tumors in infants leading to sudden, unexpected death: Description of two cases ⬇️

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

Hypercalciuria in a child with acral peeling skin syndrome: a case report

Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx.

LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to , and as novel candidates for genes causing human Mendelian disorders

Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation

Methods for assessing the severity of perinatal asphyxia and early prognostic tools in neonates with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia

Migraine and Stroke: What's the Link? What to Do?

Mowat-Wilson syndrome: growth charts

Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Mutation update for the PORCN gene.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Single median maxillary central incisor syndrome and variant in SMO gene associated with SHH pathway

Single nucleotide polymorphisms in theRET gene and their correlations with Hirschsprung disease phenotype

Skin conductance measurement for the assessment of analgosedation adequacy in infants treated with mechanical ventilation: A multicenter pilot study

Somatic mosaicism in esophageal atresia

Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue

The Impact of Congenital Esophageal Atresia on the Family Functioning

The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem

The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

[Alveolar capillary dysplasia as a cause of failure in treatment of a neonate with pulmonary persistent hypertension of the newborn - case report]

[Ascites and extreme lipid abnormalities as initial symptoms of cystic fibrosis in a 5-years-old girl--case report]

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]