List of works - Robert J. Hopkin

A case of minimal change disease in a Fabry patient

scientific article published on 30 October 2009

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

scientific article published in February 2007

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia

scientific article published on 04 August 2014

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia

scientific article published on 20 March 2019

A report of a family with an MSH2 mutation and prostate cancer

scientific article published on 10 March 2011

Acute progression of neuromuscular findings in infantile Pompe disease

scientific article

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry

scientific article published in November 2010

An update of childhood genetic disorders

scientific article published on 07 January 2013

Aspiration in children with CHARGE syndrome

scientific article

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)

scientific article published on 01 April 2004

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome

scientific article published in December 2004

Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency

scientific article

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

scientific article published on 26 June 2019

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

scientific article published in November 2008

Characterization of congenital anomalies in individuals with choanal atresia

scientific article published on June 2009

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations

scientific article

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

scientific article

Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom

scientific article published in February 2002

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy

scientific article published on 18 March 2010

Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease

scientific article

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease

scientific article published in June 2006

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

scientific article published on September 2009

Congenital lumbar hernia-A feature of diabetic embryopathy?

scientific article published on 01 October 2018

Contributions to Racial Disparity in Mortality among Children with Down Syndrome

scientific article published on 7 April 2016

Cost analysis of mandibular distraction versus tracheostomy in neonates with Pierre Robin sequence

scientific article

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy

scientific article published on 10 September 2010

Delineating the phenotype of 1p36 deletion in adolescents and adults

scientific article published on 08 July 2014

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion

scientific article

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome

scientific article published on 10 April 2020

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant

scientific article published on 8 November 2012

Enzyme reconstitution/replacement therapy for lysosomal storage diseases

scientific article published on December 2007

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

scientific article published on January 2003

Evaluation of growth in patients with isolated cleft lip and/or cleft palate

scientific article published on 8 February 2010

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

scientific article published on 01 August 2009

Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors

scientific article published on 17 July 2013

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

scientific article published on September 2006

Fabry's disease

scientific article published on 01 October 2008

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

scientific article

Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics

scientific article published on 25 March 2013

Genetic Causes of Macroglossia: Diagnostic Approach ⬇️

scientific article published on January 16, 2012

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations

scientific article published on 01 March 2005

Genetic red flags: clues to thinking genetically in primary care practice

scientific article published in September 2004

Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status

scientific article published on 01 February 2007

Genomic education for the next generation of health-care providers

scientific article published on 21 May 2019

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

scientific article

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

scientific article published on 07 September 2019

Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1.

scientific article published in December 2004

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature

scientific article published on 03 February 2012

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome

scientific article published on 01 August 2000

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

scientific article published on 23 January 2014

Lethal presentation of neurofibromatosis and Noonan syndrome

scientific article published on 12 May 2011

Long‐term survival in a patient with del(18)(q12.2q21.1) ⬇️

scientific article published on May 15, 2003

Media coverage of direct-to-consumer genetic testing

scientific article published on 03 June 2011

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Non-lethal congenital hypotonia due to glycogen storage disease type IV

scientific article published on 01 April 2006

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition

scientific article published in September 2007

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

scientific article published on 17 September 2012

Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

scientific article published on 11 October 2011

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.

scientific article published on October 2004

Phenotypic and microscopic description of a new case of Ermine phenotype

scientific article published in June 2009

Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes

scientific article

Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia

scientific article published on 26 August 2014

Prenatal MRI findings of fetuses with congenital high airway obstruction sequence

scientific article published on 03 March 2009

Prenatal diagnosis: beyond decisions about termination

scientific article published on 01 November 2008

Primary amoebic meningoencephalitis with Naegleria fowleri: clinical review.

scientific article

Progressive laryngotracheal stenosis with short stature and arthropathy

scientific article published on 01 November 1998

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

scientific article

Recurrent pancreatitis in ornithine transcarbamylase deficiency

scientific article published on 15 June 2012

Renal complications of Fabry disease in children

scientific article published on 17 August 2012

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry

scientific article

Severe cervical scoliosis in the fetus

scientific article published on 26 October 2011

Severe micrognathia: indications for EXIT-to-Airway

scientific article published on 18 September 2009

Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome

scientific article published on November 2003

Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

scientific article published on 18 June 2012

The Uncertain Diagnosis ⬇️

scientific article published on 01 March 1998

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

scientific article published on 29 July 2015

Use of the term "Antley-Bixler syndrome": minimizing confusion

scientific article published in August 2005

Variable presentation between a mother and a fetus with Goltz syndrome

scientific article published on 12 September 2013

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?

scientific article published on 12 May 2011

List of works by Robert J. Hopkin

A case of minimal change disease in a Fabry patient

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia

A report of a family with an MSH2 mutation and prostate cancer

Acute progression of neuromuscular findings in infantile Pompe disease

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry

An update of childhood genetic disorders

Aspiration in children with CHARGE syndrome

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome

Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

Characterization of congenital anomalies in individuals with choanal atresia

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy

Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease

Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report.

Congenital lumbar hernia-A feature of diabetic embryopathy?

Contributions to Racial Disparity in Mortality among Children with Down Syndrome

Cost analysis of mandibular distraction versus tracheostomy in neonates with Pierre Robin sequence

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy

Delineating the phenotype of 1p36 deletion in adolescents and adults

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant

Enzyme reconstitution/replacement therapy for lysosomal storage diseases

Enzyme therapy for lysosomal storage disease: principles, practice, and prospects

Evaluation of growth in patients with isolated cleft lip and/or cleft palate

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol

Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

Fabry's disease

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry

Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics

Genetic Causes of Macroglossia: Diagnostic Approach ⬇️

Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations

Genetic red flags: clues to thinking genetically in primary care practice

Genetic service providers' practices and attitudes regarding adolescent genetic testing for carrier status

Genomic education for the next generation of health-care providers

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1.

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

Lethal presentation of neurofibromatosis and Noonan syndrome

Long‐term survival in a patient with del(18)(q12.2q21.1) ⬇️

Media coverage of direct-to-consumer genetic testing

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Non-lethal congenital hypotonia due to glycogen storage disease type IV

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition

Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.

Phenotypic and microscopic description of a new case of Ermine phenotype

Posterior fossa anomalies diagnosed with fetal MRI: associated anomalies and neurodevelopmental outcomes

Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia

Prenatal MRI findings of fetuses with congenital high airway obstruction sequence

Prenatal diagnosis: beyond decisions about termination

Primary amoebic meningoencephalitis with Naegleria fowleri: clinical review.

Progressive laryngotracheal stenosis with short stature and arthropathy

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

Recurrent pancreatitis in ornithine transcarbamylase deficiency

Renal complications of Fabry disease in children

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry

Severe cervical scoliosis in the fetus

Severe micrognathia: indications for EXIT-to-Airway

Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome

Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation

The Uncertain Diagnosis ⬇️

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

Use of the term "Antley-Bixler syndrome": minimizing confusion