M. Parisi

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Joubert syndrome (and related disorders) (OMIM 213300)

I. Glass, P. Chance, M. Parisi, 2007, European Journal of Human Genetics.

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

I. Glass, D. Shaw, W. Dobyns, 2004, American journal of human genetics.

We don't know what we don't study: The case for research on medication effects in pregnancy

A. Guttmacher, M. Parisi, C. Spong, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

A human mitochondrial transcriptional activator can functionally replace a yeast mitochondrial HMG-box protein both in vivo and in vitro

D. A. Clayton, M. Parisi, B. Xu, 1993 .

A Human Mitochondrial Transcriptional Activator Can Functionally

D. A. Clayton, M. Parisi, Xu Baoji, 2022 .

Molecular genetics in pediatric dermatology.

V. Sybert, M. Parisi, 2000, Current opinion in pediatrics.

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex

V. Sybert, M. Parisi, A. Mitchell, 2003, Genetics in Medicine.

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex.

V. Sybert, M. Parisi, A. Mitchell, 2003 .

Hox11L1 Expression by Precursors of Enteric Smooth Muscle: An Alternative Explanation for Megacecum in Hox11L1−/− Mice

M. Parisi, R. Kapur, A. Baldessari, 2005, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome

Chanjae Lee, Leslie G. Biesecker, John B. Wallingford, 2017, Cold Spring Harbor molecular case studies.

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

C. Toro, W. Gahl, W. Zein, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Joubert Syndrome and Related Disorders

I. Glass, M. Parisi, 2013 .

Colin A. Johnson, P. Choyke, I. Glass, 2009, The Journal of pediatrics.

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders

N. Lockhart, D. Julkowska, M. Parisi, 2019, European Journal of Human Genetics.

Health Supervision for Children and Adolescents With Down Syndrome.

Randall W. Grout, J. A. Scott, J. Stoler, 2022, Pediatrics.

Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes

R. Hennekam, R. Winter, C. Eng, 2001, The Lancet.

Cilia and the ciliopathies: An introduction

M. Parisi, H. Toriello, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

L. Hudgins, C. Eng, K. Leppig, 2001, Journal of Medical Genetics.

Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene

N. Laing, S. Gospe, M. Parisi, 2007, Muscle & nerve.

A human mitochondrial transcriptional activator can functionally replace a yeast mitochondrial HMG-box protein both in vivo and in vitro

D. A. Clayton, M. Parisi, B. Xu, 1993, Molecular and cellular biology.

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI

I. Glass, P. Chance, M. Parisi, 2005, Prenatal diagnosis.

Human malformations of the midbrain and hindbrain: review and proposed classification scheme.

W. Dobyns, M. Parisi, 2003, Molecular genetics and metabolism.

A case of true hermaphroditism reveals an unusual mechanism of twinning

G. Montgomery, I. Glass, D. Nyholt, 2007, Human Genetics.

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.

Kathryn M. Camp, J. Gohagan, M. Watson, 2013, Molecular genetics and metabolism.

Standard Measurement Protocols for Pediatric Development Research in the PhenX Toolkit

Carol M. Hamilton, Richard J. Chung, Rosalind J Wright, 2022 .

D. A. Clayton, M. Parisi, D. Clayton, 1991, Science.

Genetic background modifies intestinal pseudo-obstruction and the expression of a reporter gene in Hox11L1-/- mice.

S. Shirasawa, M. Parisi, R. Kapur, 2003, Gastroenterology.

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

R. Hofstra, K. Leppig, M. Parisi, 2002, American journal of medical genetics.

Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics

M. Parisi, Mollie A Minear, Megan N Phillips, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical and molecular features of Joubert syndrome and related disorders

M. Parisi, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Meckel and Joubert Syndromes

I. Glass, M. Parisi, L. Finn, 2010 .

Ambiguous genitalia: What prenatal genetic testing is practical?

R. Pagon, M. Adam, M. Parisi, 2012, American journal of medical genetics. Part A.

A Gender Assessment Team: experience with 250 patients over a period of 25 years

R. Pagon, G. Kletter, M. Parisi, 2007, Genetics in Medicine.

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

E. Zackai, R. Weksberg, J. Squire, 2006, American journal of medical genetics. Part A.

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

Melissa L McPheeters, Mary Lou Lindegren, Anita MacDonald, 2014, Molecular genetics and metabolism.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

Craniofacial defects of blastogenesis: Duplication of pituitary with cleft palate and orophgaryngeal tumors

E. Huang, C. Heike, A. Hing, 2005, American journal of medical genetics. Part A.

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements

C. Disteche, I. Glass, M. Parisi, 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?

R. Pagon, G. Kletter, M. Parisi, 2002, American journal of medical genetics.

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: Phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

H. Zayed, A. Slavotinek, M. Parisi, 2009, American journal of medical genetics. Part A.

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.

Cynthia C Morton, C. Morton, A. Ligon, 2005, American journal of human genetics.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Colin A. Johnson, I. Glass, S. Bowdin, 2015, Journal of Medical Genetics.

Fanconi anemia‐like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene

M. Grompe, K. Leppig, M. Parisi, 2011, American journal of medical genetics. Part A.

Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1.

M. Parisi, R. Fisher, D. Clayton, 1989, Genes & development.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

J. Mullikin, I. Glass, Nisc Comparative Sequencing Program, 2017, Genetics in Medicine.

DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein.

M. Parisi, T. Lisowsky, R. Fisher, 1992, The Journal of biological chemistry.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

J. Shendure, B. O’Roak, I. Glass, 2015, Journal of Medical Genetics.

A novel oculo‐oto‐facial dysplasia in a Native Alaskan community with autosomal recessive inheritance

S. Monks, R. Sze, A. Hing, 2006, American journal of medical genetics. Part A.

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide.

M. Oster-Granite, M. Parisi, Sujata Bardhan, 2015, Global heart.

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

I. Glass, D. Shaw, W. Dobyns, 2005, Journal of Medical Genetics.

Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes

I. Glass, A. Barkovich, W. Dobyns, 2004, American journal of medical genetics. Part A.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

J. Mullikin, I. Glass, W. Gahl, 2018, Ophthalmology.

Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome

M. Patton, A. Toutain, A. Verloes, 2004, American journal of medical genetics. Part A.

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

M. Parisi, 2019, Translational science of rare diseases.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center

J. Mullikin, P. Choyke, I. Glass, 2017, Journal of pediatric gastroenterology and nutrition.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

J. Mullikin, P. Choyke, I. Glass, 2017, Clinical journal of the American Society of Nephrology : CJASN.

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

J. Mullikin, T. Huisman, N. Aygun, 2017, Journal of Medical Genetics.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

I. Glass, H. Brunner, S. Letteboer, 2007, Nature Genetics.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Yan Liu, Michael A Kennedy, Hemant Khanna, 2006, Nature Genetics.

Genetics of Hirschsprung disease

M. Parisi, R. Kapur, 2000, Current opinion in pediatrics.

Healthcare recommendations for Joubert syndrome

I. Glass, W. Zein, E. Valente, 2019, American journal of medical genetics. Part A.

Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Shashidhar Pai, Ian Glass, Louise Izatt, 2012, Journal of Medical Genetics.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

M. Dorschner, Daniel Bates, I. Glass, 2009, Journal of Medical Genetics.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter, Edwin W Rubel, Michael Dorschner, 2008, American journal of human genetics.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

I. Glass, H. Omran, F. Hildebrandt, 2007, Journal of Medical Genetics.

Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.

M. Parisi, N. Lipman, R. Kapur, 2005, Journal of pediatric surgery.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Marni J. Falk, Kathryn M. Camp, L. Wolfe, 2016, Molecular genetics and metabolism.

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

J. Mink, F. Eichler, S. Waisbren, 2016, Molecular genetics and metabolism.

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

M. Parisi, J. Hess, J. L. Bennett, 1991, Nature.

Down syndrome: national conference on patient registries, research databases, and biobanks.

J. Krischer, S. Terry, P. Kaufmann, 2011, Molecular genetics and metabolism.

Gene‐targeted therapies: Overview and implications

P. J. Brooks, M. Parisi, T. Urv, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Newborn Screening: Beyond the Spot.

M. Parisi, T. Urv, Tiina K Urv, 2017, Advances in experimental medicine and biology.

Eye movement abnormalities in Joubert syndrome.

A. Weiss, I. Glass, D. Shaw, 2009, Investigative ophthalmology & visual science.

renal cystic disease in Joubert syndrome mutations cause both retinal dystrophy and AHI1

D. Shaw, M. Parisi, D. Doherty, 2009 .

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

J. Mullikin, S. Inati, C. Toro, 2017, American journal of medical genetics. Part A.

Are we prepared to deliver gene‐targeted therapies for rare diseases?

S. Kingsmore, T. Yu, M. Might, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective

M. Parisi, J. Orsini, M. Caggana, 2023, American journal of medical genetics. Part C, Seminars in medical genetics.

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders

N. Lockhart, D. Julkowska, M. Parisi, 2019, European Journal of Human Genetics.

Response to Wieczorek and Gillessen‐Kaesbach letter addressing “A Novel Oculo‐Oto‐Facial Dysplasia in a Native Alaskan Community With Autosomal Recessive Inheritance”

A. Hing, M. Parisi, 2006 .

Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals

W. Gahl, M. Gunay‐Aygun, M. Parisi, 2021, American journal of medical genetics. Part A.

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

S. Cramer, I. Glass, R. Mahurin, 2004, Journal of child neurology.

Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene

I. Glass, P. Chance, M. Parisi, 2004, American journal of medical genetics. Part A.

Colin A. Johnson, P. Choyke, I. Glass, 2009, The Journal of pediatrics.