A. Iglesias

发表

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

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Matthew J. Nichols, J. Kurtzberg, P. Galvin-Parton, 2016, Genetics in Medicine.

New York State Cystic Fibrosis Consortium: The First 2.5 Years of Experience With Cystic Fibrosis Newborn Screening in an Ethnically Diverse Population

A. Iglesias, R. Giusti, Ashley Badgwell, 2007, Pediatrics.

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome

S. Weatherbee, A. Daluiski, A. Iglesias, 2016, Human mutation.

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

W. Chung, P. Appelbaum, J. Wynn, 2020, Patient education and counseling.

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.

D. Goldstein, V. Rotemberg, V. Aggarwal, 2017, The Journal of pediatrics.

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

S. Dimauro, H. Varma, P. Faust, 2016, European journal of medical genetics.

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation

Preti Jain, J. Picoraro, K. Anyane-Yeboa, 2016, Journal of pediatric hematology/oncology.

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

T. Naidich, J. Provenzale, J. Kurtzberg, 2016, Genetics in Medicine.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

A. Moser, A. Vanderver, C. Toro, 2017, Molecular genetics and metabolism.

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.

Duplication of distal 20q: clinical, cytogenetic and array CGH Characterization of a new case

D. Pinkel, D. Albertson, K. Rauen, 2006, Clinical dysmorphology.

Mutations in ARID2 are associated with intellectual disabilities

W. Chung, Yufeng Shen, A. O’Donnell-Luria, 2015, neurogenetics.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Christie M. Buchovecky, B. Honig, D. Petrey, 2020, Human Genetics.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Yufeng Shen, R. Ganetzky, C. Voisset, 2022, Journal of inherited metabolic disease.

Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

D. Goldstein, S. Petrovski, V. Aggarwal, 2017, American journal of medical genetics. Part A.

Mosaic trisomy 14 with hepatic involvement.

I. Glass, A. Iglesias, M. Illueca, 1997, Annales de genetique.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

The usefulness of whole-exome sequencing in routine clinical practice

Julia Wynn, Wendy K. Chung, W. Chung, 2014, Genetics in Medicine.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Robert W. Taylor, Y. Okazaki, H. Williams, 2018, American journal of human genetics.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

P. Appelbaum, J. Wynn, R. Ottman, 2018, Clinical genetics.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO

Mahshid S. Azamian, J. Rosenfeld, A. Breman, 2016, Journal of Medical Genetics.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

R. Pfundt, H. Firth, H. Brunner, 2019, American journal of human genetics.

Epigenetic defects, assisted reproductive technology, and clinical practice: a call for clinicians and genetic counselors

A. Iglesias, 2004, Clinical genetics.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

COVID-19’s Impact on Genetics at One Medical Center in New York

W. Chung, R. Wapner, E. Griffin, 2020, Genetics in Medicine.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome

Christie M. Buchovecky, V. Jobanputra, M. Ganapathi, 2022, Cold Spring Harbor molecular case studies.

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome

S. Weatherbee, A. Daluiski, A. Iglesias, 2016, Human mutation.