D. Adams

发表

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy

N. Brunetti‐Pierri, D. Kerr, W. Craigen, 2007, Hepatology.

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

Ernest Fraenkel, Mary Poss, Nazem Atassi, 2019, bioRxiv.

Newborn screening for Krabbe disease: the New York State model.

B. Kosofsky, T. Naidich, J. Provenzale, 2009, Pediatric neurology.

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.

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.

Y. Chien, T. Coşkun, K. Bhattacharya, 2019, Molecular genetics and metabolism.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

Timothy A. Miller, Jennifer E. Phillips-Cremins, Oliver H. Tam, 2019, bioRxiv.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Matthew J. Nichols, P. Galvin-Parton, M. Caggana, 2010, Molecular genetics and metabolism.

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

B. Graham, F. Scaglia, Joseph J Shen, 2010, Genetics in Medicine.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

H. Andersson, Janet A. Thomas, D. Adams, 2021, Molecular genetics and metabolism reports.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

The infantile neuroaxonal dystrophy rating scale (INAD-RS)

D. Adams, P. Atwal, Darius J. Adams, 2020, Orphanet Journal of Rare Diseases.

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.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

E. Haan, D. Baralle, D. Evans, 2007, American journal of human genetics.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

Timothy A. Miller, Jennifer E. Phillips-Cremins, Andrea D Matlock, 2020, bioRxiv.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Mahshid S. Azamian, J. Rosenfeld, J. Gécz, 2019, Science Advances.

Treatment of infantile neuroaxonal dystrophy with RT001: A di‐deuterated ethyl ester of linoleic acid: Report of two cases

M. Shchepinov, D. Adams, P. Atwal, 2020, JIMD reports.

RECOGNIZING THE CLINICAL FEATURES OF TRISOMY 13 SYNDROME

D. Adams, S. Furdon, A. Rios, 2004, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

S. Antonarakis, E. Falconnet, N. Katsanis, 2019, American journal of human genetics.

Phenotype delineation of ZNF462 related syndrome

E. Zackai, N. Fleischer, K. Boycott, 2019, American journal of medical genetics. Part A.

A prenatal presentation of severe microcephaly and brain anomalies in a patient with novel compound heterozygous mutations in the STIL gene found postnatally with exome analysis.

C. Benito, D. Adams, Darius J. Adams, 2014, Pediatric neurology.

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.

B. Burton, J. Malone, D. Grange, 2011, The Journal of pediatrics.