List of works - Dorothy K Grange

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

scientific article published on 26 May 2016

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

scientific article published on 27 April 2016

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

scientific article published on 16 February 2017

Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

scientific article

Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum

scientific article published on January 2010

Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration

scientific article published in May 2004

Automatic recognition of the XLHED phenotype from facial images

scientific article published on 10 July 2017

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

scientific article published on 07 November 2018

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

scientific article published on 08 April 2019

Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria.

scientific article

Brainstem disconnection: two additional patients and expansion of the phenotype

scientific article published on 11 February 2015

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations

scientific article published on 01 August 2006

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.

scientific article

Cantú Syndrome and Related Disorders

scientific article published on 3 October 2014

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

scientific article

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

scientific article published on 01 December 2019

Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation

scientific article published on 06 March 2008

Case report: lethal multiple pterygium syndrome ⬇️

scientific article published on 01 November 2003

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

scientific article published on 22 April 2012

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

scientific article published on 20 January 2017

Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants

scientific article published on 21 October 2019

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

scientific article published on 30 May 2016

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical utility gene card for: Cantú syndrome

scientific article

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

scientific article published on 09 September 2011

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

scientific article

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

scientific article

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

article

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

scientific article published on 18 February 2019

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)

scientific article published on 09 February 2016

Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria.

scientific article published on 12 February 2018

Dichotomous roles of TBX3 in the establishment of atrioventricular conduction pathways in the human heart

scientific article published on 20 November 2018

Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women

scientific article published on 01 January 2010

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

scientific article published on 14 October 2009

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

scientific article

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome

scientific article published on 30 June 2015

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

scientific article published on 20 July 2020

Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy

scientific article published in January 2013

Executive strategic processing during verbal fluency performance in children with phenylketonuria

scientific article

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

scientific article published on 11 March 2014

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

scientific article

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

scientific article published on 29 July 2018

Fabry disease in infancy and early childhood: a systematic literature review.

scientific article

Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report

scientific article published on 10 September 2020

Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders

scientific article

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience

scientific article published on 07 June 2019

Hypohidrotic Ectodermal Dysplasia

scientific article published in June 2017

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

scientific article

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

scientific article

Inhibitory control in children with phenylketonuria

scientific article published on January 2006

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

scientific article published on 8 October 2011

Intracranial infantile myofibromatosis with intraparenchymal involvement

scientific article published in April 2002

Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome

scientific article published on 10 November 2020

LIT1 and H19 methylation defects in isolated hemihyperplasia

scientific article published on 01 April 2005

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

scientific article

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

scientific article published on 26 December 2019

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

scientific article

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

scientific article published on 24 November 2015

Mutation update for the SATB2 gene

article

Mutations in ECEL1 cause distal arthrogryposis type 5D

scientific article

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes

scientific article

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

scientific article published on 30 September 2015

Neurologic and neuroimaging manifestations of Cantú syndrome: A case series ⬇️

scientific article published on 17 June 2016

New cases of Bohring-Opitz syndrome, update, and critical review of the literature

scientific article published on 01 June 2006

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

scientific article

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

scientific article published on 21 January 2020

Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21

scientific article

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

scientific article

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up

scientific article published on 16 June 2020

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

scientific article published on 14 August 2017

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome

scientific article published on 21 February 2020

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

scientific article published on 14 June 2018

Phenylketonuria Scientific Review Conference: state of the science and future research needs

scientific article published on 6 March 2014

Pilocytic astrocytoma in a child with Noonan syndrome.

scientific article published in December 2009

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience

scientific article published on 30 August 2019

Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria

scientific article published on 23 February 2017

Processing speed and executive abilities in children with phenylketonuria

scientific article

Prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria.

scientific article

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

scientific article (publication date: October 2014)

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

scientific article published on 2 November 2011

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Relationship between age and white matter integrity in children with phenylketonuria ⬇️

scientific article published on 8 April 2016

Response monitoring in children with phenylketonuria.

scientific article

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects

scientific article published on 06 April 2020

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study ⬇️

scientific article published on March 31, 2011

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry

scientific article published on 12 March 2014

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

scientific article published on 23 January 2014

Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease

scientific article

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase

scientific article published on 01 July 2005

Siblings with a novel MED12 variant and Odho syndrome with immune defects

scientific article published on 26 July 2020

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

scientific article published on 14 April 2014

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

scientific article published on 18 July 2016

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

scientific article published on 20 July 2017

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children

scientific article published on 01 March 2011

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

scientific article

Three-dimensional facial morphology in Cantú syndrome

scientific article published on 26 February 2020

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned

scientific article (publication date: December 2011)

Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype

scientific article published in September 2005

Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.

scientific article

Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria.

scientific article

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019

White and gray matter brain development in children and young adults with phenylketonuria

scientific article published on 02 July 2019

White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria

scientific article published on 19 July 2013

White matter integrity and executive abilities in individuals with phenylketonuria.

scientific article published on 06 April 2013

List of works by Dorothy K Grange

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum

Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration

Automatic recognition of the XLHED phenotype from facial images

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria.

Brainstem disconnection: two additional patients and expansion of the phenotype

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations

Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms.

Cantú Syndrome and Related Disorders

Cantú syndrome is caused by mutations in ABCC9.

Cantú syndrome resulting from activating mutation in the KCNJ8 gene

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation

Case report: lethal multiple pterygium syndrome ⬇️

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical utility gene card for: Cantú syndrome

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)

Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria.

Dichotomous roles of TBX3 in the establishment of atrioventricular conduction pathways in the human heart

Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy

Executive strategic processing during verbal fluency performance in children with phenylketonuria

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

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Fabry disease in infancy and early childhood: a systematic literature review.

Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report

Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience

Hypohidrotic Ectodermal Dysplasia

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

Inhibitory control in children with phenylketonuria

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions

Intracranial infantile myofibromatosis with intraparenchymal involvement

Kir6.1- and SUR2-dependent KATP over-activity disrupts intestinal motility in murine models of Cantu Syndrome

LIT1 and H19 methylation defects in isolated hemihyperplasia

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Mutation update for the SATB2 gene

Mutations in ECEL1 cause distal arthrogryposis type 5D

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

Neurologic and neuroimaging manifestations of Cantú syndrome: A case series ⬇️

New cases of Bohring-Opitz syndrome, update, and critical review of the literature

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature

Phenylketonuria Scientific Review Conference: state of the science and future research needs

Pilocytic astrocytoma in a child with Noonan syndrome.

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience