C. Fong

R. Tallents, C. Fong, S. Kyrkanides, 2004, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis.

G. Brodeur, G M Brodeur, C. Fong, 1987, Cancer genetics and cytogenetics.

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

R. Spritz, E. Legius, E. Héon, 1998, American journal of human genetics.

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Wei Li, R. Spritz, D. Bennett, 2002, Nature Genetics.

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

G. Raymond, J. Orsini, M. Caggana, 2015, Molecular genetics and metabolism.

Arylsulfatase A Deficiency -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Mucopolysaccharidosis Type I -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Gaucher Disease -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.

F. Collins, P. Taillon-Miller, B. Brownstein, 1992, Genomics.

Consistent Association of Ip Loss of Heterozygosity with Pheochromocytomas from Patients with Multiple Endocrine Neoplasia Type 2 Syndromes1

P. White, G. Brodeur, B. Nelkin, 2006 .

Molecular biology and genetics of human neuroblastoma.

G. Brodeur, C. Fong, 1989, Cancer genetics and cytogenetics.

Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndromes.

P. White, G. Brodeur, B. Nelkin, 1992, Cancer research.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Nurit Assia Batzir, C. Shaw, J. Lupski, 2021, medRxiv.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

W. Chung, Yvonne W Wu, D. Petrey, 2015, neurogenetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

C. Fong, M. Iqbal, A. Schroeder, 2021, Molecular cytogenetics.

Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review

A. Paciorkowski, C. Fong, A. Iqbal, 2020, Molecular Cytogenetics.

Association of Nasomaxillary Asymmetry in Children with Unilateral Cleft Lip and Palate and Their Parents

R. Tallents, C. Fong, S. Kyrkanides, 2003 .

Association of nasomaxillary asymmetry in children with unilateral cleft lip and palate and their parents.

R. Tallents, C. Fong, S. Kyrkanides, 2003, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Association of Distinct Craniofacial Features in Nonsyndromic Cleft Lip and Palate Family Members

R. Tallents, M. Moss, C. Fong, 2003 .

Association of distinct craniofacial features in nonsyndromic cleft lip and palate family members.

R. Tallents, M. Moss, C. Fong, 2003, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical Genetics.

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

S. Cheung, K. Devriendt, S. Gimelli, 2009, Journal of Medical Genetics.

a novel recognisable syndrome deletion region on chromosome 16 p 13 . 3 cause Taybi − Duplications of the critical Rubinstein

S. Cheung, K. Devriendt, S. Gimelli, 2022 .

Loss of heterozygosity for chromosomes 1 or 14 defines subsets of advanced neuroblastomas.

C. Sapienza, B. Vogelstein, A. Look, 1992, Cancer research.

Young–Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

C. Fong, C. Orlowski, D. Robinson, 2008, American journal of medical genetics. Part A.

Coffin-Siris Syndrome in Two Sisters in Nepal

A. Pandey, A. Ojha, C. Fong, 2013 .

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, npj Genomic Medicine.

Newborn Screening for SCID in New York State: Experience from the First Two Years

C. Cunningham-Rundles, M. Caggana, D. Kay, 2014, Journal of Clinical Immunology.

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

J. Rosenfeld, J. Lupski, Zhihong Wu, 2021, NPJ genomic medicine.

Tuberous Sclerosis Complex -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Diamond-Blackfan Anemia -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Beta-Thalassemia -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

PMM2-CDG (CDG-Ia) -- GeneReviews(®)

T. Bird, R. Pagon, K. Stephens, 2016 .

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Vicky L Brandt, Kimara L. Targoff, J. Rosenfeld, 2023, Science advances.

Congenital Hepatic Fibrosis and Autosomal Dominant Polycystic Kidney Disease

J. Halterman, J. Kaczorowski, E. Mannick, 2001 .

Process of discovery: A fourth-year translational science course

B. Digiovanni, D. Ward, T. Grady-Weliky, 2011, Medical education online.

Molecular diagnosis of genetic diseases.

C. Fong, 1993, Pediatric annals.

A culinary laboratory for nutrition education

C. Fong, A. Medina-Walpole, P. Stewart, 2016, The clinical teacher.

MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent

C. Fong, M. Iqbal, Bin Zhang, 2021, Molecular Cytogenetics.

Neurofibromatosis 2 -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Riboflavin Transporter Deficiency Neuronopathy -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Knowledge, Perception, and Behaviors of Relatives of People With Premature Heart Disease: A Systematic Literature Review

W. Neal, J. Marshall, T. Pearson, 2011, Circulation.

Multiple Endocrine Neoplasia Type 2 -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Myotonic Dystrophy Type 2 -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Molecular analysis and clinical significance of N-myc amplification and chromosome 1p monosomy in human neuroblastomas.

R. Seeger, G. Brodeur, R. Griffith, 1988, Progress in clinical and biological research.

Aicardi Syndrome -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Newborn Screening for SCID in New York State: Experience from the First Two Years

C. Cunningham-Rundles, V. Bonagura, M. Caggana, 2014, Journal of Clinical Immunology.

Marfan Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Mitochondrial DNA Deletion Syndromes -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

GRM7 variants associated with age-related hearing loss based on auditory perception

R. Frisina, D. Eddins, D. Frisina, 2012, Hearing Research.

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

S. Arold, R. Maroofian, H. Houlden, 2021, Brain : a journal of neurology.

Applying the functional independence measure to the assessment of patients with mucopolysaccharidosis

C. Fong, M. Almeida Matos, J. Rodi, 2020, Colombia medica.

Disorders of Intracellular Cobalamin Metabolism -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Replication of a genome-wide association study of birth weight in preterm neonates.

D. Weeks, K. Doheny, E. Pugh, 2012, The Journal of pediatrics.

Expanding the neurodevelopmental phenotype of PURA syndrome

M. Reijnders, D. Baralle, L. Bennetto, 2018, American journal of medical genetics. Part A.

Pathology teach and tell: congenital hepatic fibrosis and autosomal dominant polycystic kidney disease.

J. Halterman, J. Kaczorowski, E. Mannick, 2001, Pediatric pathology & molecular medicine.

X-Linked Agammaglobulinemia -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants

S. Tortorelli, C. Fong, Zinandré Stander, 2022, American journal of medical genetics. Part A.

Urofacial Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Hyperkalemic Periodic Paralysis -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Principles of inborn errors of metabolism: an exercise.

C. Fong, 1995, Pediatrics in review.

New Mitochondrial Disease Identified In Monozygotic Twin Boys

V. Jobanputra, R. Happle, B. Gelb, 2023, American journal of medical genetics. Part A.

Spinal Muscular Atrophy -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Neurofibromatosis 1 -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Wolf-Hirschhorn Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Angelman Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

M. Watson, L. Notarangelo, J. Walter, 2014, JAMA.

Spinocerebellar Ataxia Type 8 -- GeneReviews(®)

Heather C. Mefford, Ardinger Hh, Wallace Se, 2016 .

Campomelic Dysplasia -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Hereditary Paraganglioma-Pheochromocytoma Syndromes -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Huntington Disease -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Knowledge, Perception, and Behaviors of Relatives of People With Premature Heart Disease: A Systematic Literature Review

W. Neal, J. Marshall, T. Pearson, 2011, Circulation.

Loeys-Dietz Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Microphthalmia/Anophthalmia/Coloboma Spectrum -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Beckwith-Wiedemann Syndrome -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .