Genetics & Metabolism

Research Output 1972 2019

2019

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Paulraj, P., Bosworth, M., Longhurst, M., Hornbuckle, C., Gotway, G. K., Lamb, A. N. & Andersen, E. F., Jan 1 2019, (Accepted/In press) In : Cytogenetic and Genome Research.

Research output: Contribution to journalArticle

Intellectual Disability
Single Nucleotide Polymorphism
Genes
Chromosomes, Human, Pair 13
Mutation

Association between Birth Defects and Cancer Risk among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births

Lupo, P. J., Schraw, J. M., Desrosiers, T. A., Nembhard, W. N., Langlois, P. H., Canfield, M. A., Copeland, G., Meyer, R. E., Brown, A. L., Chambers, T. M., Sok, P., Danysh, H. E., Carozza, S. E., Sisoudiya, S. D., Hilsenbeck, S. G., Janitz, A. E., Oster, M. E., Scheuerle, A. E., Schiffman, J. D., Luo, C. & 6 others, Mian, A., Mueller, B. A., Huff, C. D., Rasmussen, S. A., Scheurer, M. E. & Plon, S. E., Aug 2019, In : JAMA Oncology. 5, 8, p. 1150-1158 9 p.

Research output: Contribution to journalArticle

Live Birth
Population
Neoplasms
Registries
Hepatoblastoma

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Blackburn, A. T. M., Bekheirnia, N., Uma, V. C., Corkins, M. E., Xu, Y., Rosenfeld, J. A., Bainbridge, M. N., Yang, Y., Liu, P., Madan-Khetarpal, S., Delgado, M. R., Hudgins, L., Krantz, I., Rodriguez-Buritica, D., Wheeler, P. G., Gazali, L. A., Mohamed Saeed Mohamed Al Shamsi, A., Gomez-Ospina, N., Chao, H. T., Mirzaa, G. M. & 9 others, Scheuerle, A. E., Kukolich, M. K., Scaglia, F., Eng, C., Willsey, H. R., Braun, M. C., Lamb, D. J., Miller, R. K. & Bekheirnia, M. R., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Intellectual Disability
Nephrons
Xenopus
RNA
Exome
1 Citation (Scopus)

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Ni, M., Solmonson, A., Pan, C., Yang, C., Li, D., Notzon, A., Cai, L., Guevara, G., Zacharias, L. G., Faubert, B., Vu, H. S., Jiang, L., Ko, B., Morales, N. M., Pei, J., Dias do Vale, G., Rakheja, D., Grishin, N. V., McDonald, J. G., Gotway, G. K. & 3 others, McNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In : Cell Reports. 27, 5, p. 1376-1386.e6

Research output: Contribution to journalArticle

Open Access
Functional assessment
Inborn Errors Metabolism
Metabolomics
Genomics
Metabolism

Health supervision for children with neurofibromatosis type 1

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, May 1 2019, In : Pediatrics. 143, 5, Y.

Research output: Contribution to journalReview article

Open Access
Neurofibromatosis 1
Inheritance Patterns
Health
Peripheral Nervous System
Growth and Development

Incontinentia pigmenti in adults

Scheuerle, A., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Incontinentia Pigmenti
Malformed Nails
Hypohidrosis
Microphthalmos
Ectodermal Dysplasia

Levetiracetam Pregnancy Registry: Final results and a review of the impact of registry methodology and definitions on the prevalence of major congenital malformations

Scheuerle, A., Holmes, L. B., Albano, J. D., Badalamenti, V., Battino, D., Covington, D., Harden, C., Miller, D., Montouris, G. D., Pantaleoni, C., Thorp, J., Tofighy, A., Tomson, T. & Golembesky, A. K., Jan 1 2019, In : Birth Defects Research.

Research output: Contribution to journalArticle

etiracetam
Registries
Pregnancy
Anticonvulsants
Twin Pregnancy
Esophageal Atresia
Phenotype
Imperforate Anus
Down Syndrome
Fistula
1 Citation (Scopus)

Pregnancy outcomes in the omalizumab pregnancy registry and a disease-matched comparator cohort

Namazy, J. A., Blais, L., Andrews, E. B., Scheuerle, A., Cabana, M. D., Thorp, J. M., Umetsu, D. T., Veith, J. H., Sun, D., Kaufman, D. G., Covington, D. L., Mukhopadhyay, S., Fogel, R. B., Lopez-Leon, S. & Spain, C. V., Jan 1 2019, In : Journal of Allergy and Clinical Immunology.

Research output: Contribution to journalArticle

Open Access
Pregnancy Outcome
Quebec
Registries
Pregnancy
Pregnant Women

Selected acculturation factors and birth defects in the National Birth Defects Prevention Study, 1997–2011

the National Birth Defects Prevention Study, Jan 1 2019, In : Birth Defects Research.

Research output: Contribution to journalArticle

Acculturation
Defects
Parents
Mothers
Gastroschisis

Sociodemographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study

National Birth Defects Prevention Study, Jul 1 2019, In : International Journal of Pediatric Otorhinolaryngology. 122, p. 18-26 9 p.

Research output: Contribution to journalArticle

Case-Control Studies
Confidence Intervals
Health
Population
Mothers

Temporal trends in diagnoses of congenital microcephaly, Texas Hospital Discharge Diagnoses, 2000–2015

Waller, D. K., Tark, J. Y., Agopian, A. J., Shewale, J., Ganduglia-Cazaban, C., Hoyt, A. T., Scheuerle, A. & Langlois, P. H., Jan 1 2019, In : Birth Defects Research.

Research output: Contribution to journalArticle

Microcephaly
Premature Birth
Live Birth
Defects
Fetal Development
2018
2 Citations (Scopus)

An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss-of-function mutation in ADAMTS3

Scheuerle, A., Sweed, N. T., Timmons, C. F., Smith, E. D., Alcaraz, W. A. & Shinde, D. N., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Genetic Databases
Vascular Endothelial Growth Factor C
Disintegrins
Mutation
Nonsense Codon
6 Citations (Scopus)

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Wooderchak-Donahue, W. L., Johnson, P., McDonald, J., Blei, F., Berenstein, A., Sorscher, M., Mayer, J., Scheuerle, A. E., Lewis, T., Grimmer, J. F., Richter, G. T., Steeves, M. A., Lin, A. E., Stevenson, D. A. & Bayrak-Toydemir, P., Jun 11 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-16 16 p.

Research output: Contribution to journalArticle

Arteriovenous Fistula
Sturge-Weber Syndrome
Phenotype
Vascular Malformations
Comparative Genomic Hybridization
4 Citations (Scopus)

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Nguyen, T. T. M., Murakami, Y., Wigby, K. M., Baratang, N. V., Rousseau, J., St-Denis, A., Rosenfeld, J. A., Laniewski, S. C., Jones, J., Iglesias, A. D., Jones, M. C., Masser-Frye, D., Scheuerle, A. E., Perry, D. L., Taft, R. J., Le Deist, F., Thompson, M., Kinoshita, T. & Campeau, P. M., Oct 4 2018, In : American Journal of Human Genetics. 103, 4, p. 602-611 10 p.

Research output: Contribution to journalArticle

Glycosylphosphatidylinositols
Brain Diseases
Mutation
Exome
Phenotype
22 Citations (Scopus)

Pregnancy Outcomes After Exposure to Certolizumab Pegol: Updated Results From a Pharmacovigilance Safety Database Pregnancy Outcomes After Exposure to Certolizumab Pegol: Updated Results From a Pharmacovigilance Safety Database Clowse et al

Clowse, M. E. B., Scheuerle, A. E., Chambers, C., Afzali, A., Kimball, A. B., Cush, J. J., Cooney, M., Shaughnessy, L., Vanderkelen, M. & Förger, F., Jan 1 2018, (Accepted/In press) In : Arthritis and Rheumatology.

Research output: Contribution to journalArticle

Pharmacovigilance
Pregnancy Outcome
Databases
Safety
Pregnancy
2017
5 Citations (Scopus)

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events

Hanchard, N. A., Umana, L. A., D'Alessandro, L., Azamian, M., Poopola, M., Morris, S. A., Fernbach, S., Lalani, S. R., Towbin, J. A., Zender, G. A., Fitzgerald-Butt, S., Garg, V., Bowman, J., Zapata, G., Hernandez, P., Arrington, C. B., Furthner, D., Prakash, S. K., Bowles, N. E., McBride, K. L. & 1 others, Belmont, J. W., Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2176-2188 13 p.

Research output: Contribution to journalArticle

Heart Diseases
Genes
Uncertainty
Medical Records
Single Nucleotide Polymorphism

Enamel pit defects and taurodontism in a patient with ring chromosome 14 and 47,XXX

Townsend, J. A., Lacour, L. & Scheuerle, A. E., Jan 1 2017, In : Journal of Dentistry for Children. 84, 1, p. 39-43 5 p.

Research output: Contribution to journalArticle

Dental Enamel
Case Management
Epilepsy
Ring Chromosome 14 Syndrome
Taurodontism
1 Citation (Scopus)

Genética clínica comunitaria: Exploración de patología genética en Boyacá, Colombia

Translated title of the contribution: Clinical community genetics: Exploring genetic disorders in Boyacá, ColombiaVelasco, H. M., Martin, Á. M., Galvis, J., Buelvas, L., Sánchez, Y., Umaña, L. A. & Acosta, J., Jan 1 2017, In : Revista de Salud Publica. 19, 1, p. 61-70 10 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Colombia
Ellis-Van Creveld Syndrome
Mucopolysaccharidosis III
Education
5 Citations (Scopus)

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia: A Neurogenetic Description

Velasco, H. M., Sanchez, Y., Martin, A. M. & Umaña, L. A., 2017, In : Journal of Child Neurology. 32, 2, p. 177-183 7 p.

Research output: Contribution to journalReview article

Mucopolysaccharidosis III
Colombia
Mutation
Heparitin Sulfate
Pedigree
4 Citations (Scopus)

Pre-Zika descriptive epidemiology of microcephaly in Texas, 2008-2012

Hoyt, A. T., Canfield, M. A., Langlois, P. H., Waller, D. K., Agopian, A. J., Shumate, C. J., Hall, N. B., Marengo, L. K., Ethen, M. K. & Scheuerle, A. E., Jan 1 2017, (Accepted/In press) In : Birth Defects Research.

Research output: Contribution to journalArticle

Microcephaly
Epidemiology
Mothers
Parturition
Pregnancy

Some Intensification and Refining

Scheuerle, A. E., Jan 5 2017, (Accepted/In press) In : Journal of Craniofacial Surgery.

Research output: Contribution to journalArticle

2016
3 Citations (Scopus)
Teratogens
Registries
First Pregnancy Trimester
Morbidity
Embryonic Development
21 Citations (Scopus)

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Weiss, K., Terhal, P. A., Cohen, L., Bruccoleri, M., Irving, M., Martinez, A. F., Rosenfeld, J. A., Machol, K., Yang, Y., Liu, P., Walkiewicz, M., Beuten, J., Gomez-Ospina, N., Haude, K., Fong, C. T., Enns, G. M., Bernstein, J. A., Fan, J., Gotway, G., Ghorbani, M. & 7 others, van Gassen, K., Monroe, G. R., van Haaften, G., Basel-Vanagaite, L., Yang, X. J., Campeau, P. M. & Muenke, M., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 934-941 8 p.

Research output: Contribution to journalArticle

DNA-Binding Proteins
Intellectual Disability
Chromatin
Adenosine Triphosphate
Mutation
4 Citations (Scopus)

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

Dai, H., Zhang, V. W., El-Hattab, A. W., Ficicioglu, C., Shinawi, M., Lines, M., Schulze, A., Mcnutt, M., Gotway, G., Tian, X., Chen, S., Wang, J., Craigen, W. J. & Wong, L. J., 2016, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Mitochondrial DNA
Lactic Acidosis
Milk
Mutation
9 Citations (Scopus)

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Care4Rare Canada Consortium & UCLA Clinical Genomics Center, Feb 1 2016, In : Human Mutation. 37, 2, p. 148-154 7 p.

Research output: Contribution to journalReview article

Mandibulofacial Dysostosis
Microcephaly
Databases
Mutation
Esophageal Atresia
4 Citations (Scopus)
Maternal Exposure
Craniosynostoses
Polycyclic Aromatic Hydrocarbons
Occupational Exposure
Odds Ratio
3 Citations (Scopus)

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease

Pena, J. A., Lotze, T., Yang, Y., Umana, L. U. I. S., Walkiewicz, M., Hunter, J. V. & Scaglia, F., Feb 1 2016, In : Journal of Child Neurology. 31, 2, p. 215-219 5 p.

Research output: Contribution to journalArticle

methionyl-tRNA formyltransferase
Demyelinating Diseases
Mutation
Leigh Disease
Exome
9 Citations (Scopus)

Prenatal exposure to zidovudine and risk for ventricular septal defects and congenital heart defects: Data from the Antiretroviral Pregnancy Registry

Vannappagari, V., Albano, J. D., Koram, N., Tilson, H., Scheuerle, A. E. & Napier, M. D., Feb 1 2016, In : European Journal of Obstetrics Gynecology and Reproductive Biology. 197, p. 6-10 5 p.

Research output: Contribution to journalArticle

Congenital Heart Defects
Zidovudine
Ventricular Heart Septal Defects
Registries
Pregnancy
77 Citations (Scopus)

Update: Interim guidance for the evaluation and management of infants with possible congenital Zika virus infection — United States, August 2016

Extended Voting Group & Sanchez, P., Aug 26 2016, In : Morbidity and Mortality Weekly Report. 65, 33, p. 870-878 9 p.

Research output: Contribution to journalArticle

2015
16 Citations (Scopus)

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency

Stender, S., Chakrabarti, R. S., Xing, C., Gotway, G., Cohen, J. C. & Hobbs, H. H., Sep 8 2015, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Adenosylhomocysteinase
Liver
Liver Diseases
Hepatocellular Carcinoma
Transaminases
21 Citations (Scopus)

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

Peddibhotla, S., Nagamani, S. C. S., Erez, A., Hunter, J. V., Holder, J. L., Carlin, M. E., Bader, P. I., Perras, H. M. F., Allanson, J. E., Newman, L., Simpson, G., Immken, L., Powell, E., Mohanty, A., Kang, S. H. L., Stankiewicz, P., Bacino, C. A., Bi, W., Patel, A. & Cheung, S. W., Jan 11 2015, In : European Journal of Human Genetics. 23, 1, p. 54-60 7 p.

Research output: Contribution to journalArticle

Chromosome Deletion
Brain
Genes
Causality
Periventricular Nodular Heterotopia
64 Citations (Scopus)

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Chong, J. X., McMillin, M. J., Shively, K. M., Beck, A. E., Marvin, C. T., Armenteros, J. R., Buckingham, K. J., Nkinsi, N. T., Boyle, E. A., Berry, M. N., Bocian, M., Foulds, N., Uzielli, M. L. G., Haldeman-Englert, C., Hennekam, R. C. M., Kaplan, P., Kline, A. D., Mercer, C. L., Nowaczyk, M. J. M., Klein Wassink-Ruiter, J. S. & 13 others, McPherson, E. W., Moreno, R. A., Scheuerle, A. E., Shashi, V., Stevens, C. A., Carey, J. C., Monteil, A., Lory, P., Tabor, H. K., Smith, J. D., Shendure, J., Nickerson, D. A. & Bamshad, M. J., Mar 5 2015, In : American Journal of Human Genetics. 96, 3, p. 462-473 12 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Contracture
Arthrogryposis
Extremities
Mutation

Descriptive Epidemiology of Birth Defects Thought to Arise by New Mutation

Langlois, P. H. & Scheuerle, A. E., Nov 1 2015, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 103, 11, p. 913-927 15 p.

Research output: Contribution to journalArticle

Epidemiology
Mutation
Registries
Parents
Paternal Age
6 Citations (Scopus)

Expanding the Molecular and Clinical Phenotype of SSR4-CDG

University of Washington Center for Mendelian Genomics, Nov 1 2015, In : Human Mutation. 36, 11, p. 1048-1051 4 p.

Research output: Contribution to journalArticle

Congenital Disorders of Glycosylation
Transferrin
Phenotype
Glycosylation
Mutation
44 Citations (Scopus)

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Rojnueangnit, K., Xie, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott, M. A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C. P., Crenshaw, M., Bartholomew, D. W., Basel, L., Bellus, G., Ben-Shachar, S., Bialer, M. G., Bick, D., Blumberg, B. & 53 others, Cortes, F., David, K. L., Destree, A., Duat-Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I. M., Frydman, M., Gardner, K., Gripp, K. W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B. A., Llano-Rivas, I., Leppig, K., Mcdonald, M., Misra, V. K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro, H., Pivnick, E. K., Powell, C. M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C. P., Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M., Verma, I. C., Wallace, S., Williams, C., Zackai, E., Zonana, J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E. & Messiaen, L., Nov 1 2015, In : Human Mutation. 36, 11, p. 1052-1063 12 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Neurofibromatosis 1
Pulmonary Valve Stenosis
Genetic Association Studies
Missense Mutation

IKBKG mutation with incontinentia pigmenti and ring-enhancing encephalopathy

Eksambe, D., Agim, N., Uddin, N., Gotway, G. & Pascual, J. M., Dec 1 2015, In : JAMA Neurology. 72, 12, p. 1533-1535 3 p.

Research output: Contribution to journalArticle

I-kappa B Kinase
Incontinentia Pigmenti
Brain Diseases
Aspartate Aminotransferases
Alanine Transaminase
15 Citations (Scopus)

Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

Chien, Y. H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., Donner, M. G., Ficicioglu, C., Freehauf, C., Frithiof, D., Gotway, G., Hirabayashi, K., Hofstede, F., Hoganson, G., Hwu, W. L., James, P., Kim, S., Korman, S. H., Lachmann, R., Levy, H. & 19 others, Lindner, M., Lykopoulou, L., Mayatepek, E., Muntau, A., Okano, Y., Raymond, K., Rubio-Gozalbo, E., Scholl-Bürgi, S., Schulze, A., Singh, R., Stabler, S., Stuy, M., Thomas, J., Wagner, C., Wilson, W. G., Wortmann, S., Yamamoto, S., Pao, M. & Blom, H. J., Aug 20 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 99.

Research output: Contribution to journalArticle

Homozygote
Heterozygote
Methionine
Mutation
Methionine Adenosyltransferase
29 Citations (Scopus)
Population Surveillance
Geography
Population
69 Citations (Scopus)

The Xolair Pregnancy Registry (EXPECT): The safety of omalizumab use during pregnancy

Namazy, J., Cabana, M. D., Scheuerle, A. E., Thorp, J. M., Chen, H., Carrigan, G., Wang, Y., Veith, J. & Andrews, E. B., Feb 1 2015, In : Journal of Allergy and Clinical Immunology. 135, 2, p. 407-412 6 p.

Research output: Contribution to journalArticle

Registries
Safety
Pregnancy
Stillbirth
Live Birth
2014
2 Citations (Scopus)
Registries
Epidemiology
Phenotype
Mutation
Paternal Age
3 Citations (Scopus)

Birth defects, causal attributions, and ethnicity in the national birth defects prevention study

Case, A. P., Royle, M., Scheuerle, A. E., Carmichael, S. L., Moffitt, K. & Ramadhani, T., Oct 1 2014, In : Journal of Genetic Counseling. 23, 5, p. 860-873 14 p.

Research output: Contribution to journalArticle

Parturition
Teratogens
Heredity
Paint
Tobacco Use
26 Citations (Scopus)

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

Xia, F., Bainbridge, M. N., Tan, T. Y., Wangler, M. F., Scheuerle, A. E., Zackai, E. H., Harr, M. H., Sutton, V. R., Nalam, R. L., Zhu, W., Nash, M., Ryan, M. M., Yaplito-Lee, J., Hunter, J. V., Deardorff, M. A., Penney, S. J., Beaudet, A. L., Plon, S. E., Boerwinkle, E. A., Lupski, J. R. & 4 others, Eng, C. M., Muzny, D. M., Yang, Y. & Gibbs, R. A., May 1 2014, In : American Journal of Human Genetics. 94, 5, p. 784-789 6 p.

Research output: Contribution to journalArticle

Language Development Disorders
Muscle Hypotonia
Sleep Apnea Syndromes
Exome
Mutation
27 Citations (Scopus)

Diagnostic yield of clinical next-generation sequencing panels for epilepsy

Wang, J., Gotway, G., Pascual, J. M. & Park, J. Y., 2014, In : JAMA Neurology. 71, 5, p. 650-651 2 p.

Research output: Contribution to journalArticle

High-Throughput Nucleotide Sequencing
Epilepsy
Retrospective Studies
Sequencing
Diagnostics
24 Citations (Scopus)

Final results from the Betaseron (interferon β-1b) Pregnancy Registry: A prospective observational study of birth defects and pregnancy-related adverse events

Coyle, P. K., Sinclair, S. M., Scheuerle, A. E., Thorp, J. M., Albano, J. D. & Rametta, M. J., 2014, In : BMJ Open. 4, 5, e004536.

Research output: Contribution to journalArticle

Interferons
Observational Studies
Registries
Spontaneous Abortion
Prospective Studies
4 Citations (Scopus)

Genomic analyses of patients with unexplained early-onset scoliosis

Gao, X., Gotway, G., Rathjen, K., Johnston, C., Sparagana, S. & Wise, C. A., 2014, In : Spine Deformity. 2, 5, p. 324-332 9 p.

Research output: Contribution to journalArticle

Scoliosis
Mutation
Uniparental Disomy
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 10
45 Citations (Scopus)

Insight into IKBKG/NEMO locus: Report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

Conte, M. I., Pescatore, A., Paciolla, M., Esposito, E., Miano, M. G., Lioi, M. B., Mcaleer, M. A., Giardino, G., Pignata, C., Irvine, A. D., Scheuerle, A. E., Royer, G., Hadj-Rabia, S., Bodemer, C., Bonnefont, J. P., Munnich, A., Smahi, A., Steffann, J., Fusco, F. & Ursini, M. V., Feb 2014, In : Human Mutation. 35, 2, p. 165-177 13 p.

Research output: Contribution to journalArticle

Incontinentia Pigmenti
Mutation
Nonsense Codon
Genomic Segmental Duplications
Nuclear Proteins
65 Citations (Scopus)

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Kaiser, F. J., Ansari, M., Braunholz, D., Gil-Rodríguez, M. C., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J. J., Brunner, H. G., Clark, D., Campo, M. D., Di Donato, N., Diakumis, P., Dubbs, H. & 64 others, Dyment, D. A., Eckhold, J., Ernst, S., Ferreira, J. C., Francey, L. J., Gehlken, U., Guillén-Navarro, E., Gyftodimou, Y., Hall, B. D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J. M., Yntema, H., Innes, A. M., Kline, A. D., Krumina, Z., Lee, H., Leppig, K., Lynch, S. A., Mallozzi, M. B., Mannini, L., Mckee, S., Mehta, S. G., Micule, I., Consortium, C. R. C., Mohammed, S., Moran, E., Mortier, G. R., Moser, J. A. S., Noon, S. E., Nozaki, N., Nunes, L., Pappas, J. G., Penney, L. S., Pérez-Aytés, A., Petersen, M. B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A. E., Schindeler, K. L., Siu, V. M., Stark, Z., Strom, S. P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L. C., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F. J., Jackson, L. G., Shirahige, K., Pié, J., Christianson, D. W., Krantz, I. D., Fitzpatrick, D. R. & Deardorff, M. A., 2014, In : Human Molecular Genetics. 23, 11, p. 2888-2900 13 p., ddu002.

Research output: Contribution to journalArticle

De Lange Syndrome
Hypertelorism
X-Linked Genes
Mutation
Missense Mutation
13 Citations (Scopus)

Mortality in babies with achondroplasia: Revisited

Simmons, K., Hashmi, S. S., Scheuerle, A., Canfield, M. & Hecht, J. T., 2014, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 4, p. 247-249 3 p.

Research output: Contribution to journalArticle

Achondroplasia
Mortality
Population
Infant Mortality
Vital Statistics
6 Citations (Scopus)

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia

National Birth Defects Prevention Study, Nov 1 2014, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 11, p. 852-862 11 p.

Research output: Contribution to journalArticle

Acculturation
Hispanic Americans
Mothers
Odds Ratio
Confidence Intervals