M. Gunay‐Aygun

发表

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

J. Hoover-Fong, Michael Muriello, Alexander Y Kim, 2019, American journal of medical genetics. Part A.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

M. Halushka, M. Gunay‐Aygun, Carolyn D Applegate, 2012, American Journal of Medical Genetics. Part A.

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.

S. Hooper, M. Braun, L. Wilkins-Haug, 2014, The Journal of pediatrics.

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

J. Kere, L. Pelletier, N. Sebire, 2015, American journal of human genetics.

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.

Defective ciliogenesis in INPP5E‐related Joubert syndrome

Ellen F. Macnamara, C. Toro, W. Gahl, 2017, American journal of medical genetics. Part A.

Genetics of Fibrocystic Diseases of the Liver and Molecular Approaches to Therapy

W. Gahl, M. Gunay‐Aygun, M. Tuchman, 2010 .

Liver and kidney disease in ciliopathies

M. Gunay‐Aygun, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.

P. Choyke, W. Gahl, M. Gunay‐Aygun, 2020, Molecular genetics and metabolism.

Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease

P. Choyke, W. Gahl, M. Gunay‐Aygun, 2012, Journal of pediatric gastroenterology and nutrition.

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.

Peter R. Harris, P. Choyke, E. Avner, 2006, The Journal of pediatrics.

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

W. Gahl, M. Huizing, M. Gunay‐Aygun, 2010, Molecular genetics and metabolism.

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

P. Choyke, W. Gahl, B. Turkbey, 2011, Molecular genetics and metabolism.

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

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15.

S. Schwartz, M. Gunay‐Aygun, S. Cassidy, 1997, American journal of medical genetics.

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

W. Gahl, W. Westbroek, M. Huizing, 2008, Annual review of genomics and human genetics.

Molecular defects that affect platelet dense granules.

W. Gahl, M. Huizing, M. Gunay‐Aygun, 2004, Seminars in thrombosis and hemostasis.

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency

C. Venditti, I. Manoli, Alexander Y Kim, 2019, JIMD reports.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

J. Mullikin, C. Toro, W. Gahl, 2015, Journal of Medical Genetics.

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

D. Adams, W. Gahl, T. Markello, 2017, Molecular genetics and metabolism.

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

P. Choyke, J. Naggert, W. Gahl, 2018, Molecular genetics and metabolism.

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

J. Naggert, A. Arai, W. Gahl, 2017, Molecular genetics and metabolism.

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

Olga A. Stakhovskaya, J. Naggert, W. Gahl, 2017, American journal of medical genetics. Part A.

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

Nathan A Hotaling, Rajarshi Pal, H. May-Simera, 2018, Cell reports.

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

J. Mullikin, N. Hansen, D. Geiger, 2010, Blood.

Congenital Hepatic Fibrosis Overview

W. Gahl, M. Gunay‐Aygun, T. Heller, 2014 .

Reply: To PMID 23041322.

W. Gahl, M. Gunay‐Aygun, 2013, Gastroenterology.

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Baris Turkbey, Peter L. Choyke, Iclal Ocak, 2009, Pediatric Radiology.

Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.

W. Gahl, M. Gunay‐Aygun, S. Y. Kim, 2005, Molecular genetics and metabolism.

Genetic basis of cystinosis in Turkish patients: a single-center experience

W. Gahl, A. Bakkaloğlu, M. Gunay‐Aygun, 2011, Pediatric Nephrology.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

E. Molinari, H. Cordell, G. Clowry, 2019, Proceedings of the National Academy of Sciences.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

C. Toro, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

J. Naggert, E. Turkbey, W. Gahl, 2018, The Journal of clinical endocrinology and metabolism.

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.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

R. Hochstenbach, Q. Waisfisz, R. Person, 2019, 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.

Abnormal glycosylation in Joubert syndrome type 10

C. Boerkoel, W. Gahl, M. Davids, 2017, Cilia.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

J. Mullikin, C. Toro, W. Gahl, 2016, Journal of Medical Genetics.

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.

TMEM231 Gene Conversion Associated with Joubert and Meckel–Gruber Syndromes in the Same Family

W. Gahl, M. Gunay‐Aygun, J. Stephen, 2016, Human mutation.

Prader–Willi and Other Syndromes Associated with Obesity and Mental Retardation

M. Gunay‐Aygun, R. Nicholls, S. Cassidy, 1997, Behavior genetics.

Healthcare recommendations for Joubert syndrome

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

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Carla Ciccone, William A. Gahl, Marjan Huizing, 2011, The Journal of investigative dermatology.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

K. Kawakami, S. Lalani, Z. Sedlacek, 2021, Genetics in Medicine.

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

J. Mullikin, C. Boerkoel, W. Gahl, 2011, Nature Genetics.

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.

Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I)

W. Gahl, M. Gunay‐Aygun, T. Heller, 2010, American journal of medical genetics. Part A.

Clinical characteristics of individual organ system disease in non-motile ciliopathies

M. Gunay‐Aygun, Angela Grochowsky, 2019, Translational science of rare diseases.

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

P. Choyke, D. Douek, M. Sincan, 2013, Gastroenterology.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Z. Quezado, W. Gahl, B. Turkbey, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

E. Molinari, M. Gunay‐Aygun, J. Sayer, 2019, Scientific Reports.

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.

K. Nagashima, A. Cideciyan, S. Jacobson, 2017, Cell reports.

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension

V. Novack, S. Holland, E. Levy, 2018, Hepatology communications.

Consensus clinical management guidelines for Alström syndrome

M. Gunay‐Aygun, H. Dollfus, R. Steeds, 2020, Orphanet Journal of Rare Diseases.

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

W. Gahl, M. Gunay‐Aygun, J. Stephen, 2023, Frontiers in Genetics.

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

S. Schwartz, M. Gunay‐Aygun, M. O'riordan, 2001, Pediatrics.

Bardet-Biedl Syndrome Overview

M. Gunay‐Aygun, RaeLynn Forsyth, 1993 .

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.

M. Gunay‐Aygun, 2005, Molecular genetics and metabolism.

In Vitro Modeling Using Ci liopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP 290 Mutations Graphical

K. Nagashima, A. Cideciyan, S. Jacobson, 2017 .

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.

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis

M. Gunay‐Aygun, D. Batista, Weiyi Mu, 2015, American journal of medical genetics. Part A.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

J. Mullikin, Nisc Comparative Sequencing Program, W. Gahl, 2017, Human Genetics.

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

W. Gahl, M. Gunay‐Aygun, J. Stephen, 2017, American journal of medical genetics. Part A.

Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2019, Cold Spring Harbor molecular case studies.

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

E. Molinari, M. Gunay‐Aygun, J. Sayer, 2019, Scientific Reports.

Clinical and locus heterogeneity in brachydactyly type C.

M. Warman, M. Gunay‐Aygun, N. Robin, 1997, American journal of medical genetics.

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

M. Gunay‐Aygun, H. Vernon, Jiyoung Kim, 2022, Case reports in genetics.

Pitfalls in the Diagnosis of Hereditary Fructose Intolerance

Krista Sondergaard Schatz, M. Gunay‐Aygun, Tao Wang, 2020, Pediatrics.

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.

Respiratory manifestations in 38 patients with Alström syndrome

M. Gunay‐Aygun, K. Olivier, J. Marshall, 2017, Pediatric pulmonology.

Hypertrophic cardiomyopathy: How far should we go with genetic testing?

M. Gunay‐Aygun, J. A. Fahrner, A. Murphy, 2013, American journal of medical genetics. Part A.

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

M. Halushka, M. Gunay‐Aygun, R. Thompson, 2012, American journal of medical genetics. Part A.

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

J. Naggert, A. Arai, W. Gahl, 2017, Molecular genetics and metabolism.

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