D. Bartholomew

发表

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

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

D. Kerr, S. Parikh, D. Bartholomew, 2020, JIMD reports.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp

K. Gripp, D. Bartholomew, D. Bertola, 2017, American journal of medical genetics. Part A.

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

E. Alexov, M. Friez, Yunhui Peng, 2019, Journal of Human Genetics.

Docosahexaenoic Acid and Amino Acid Contents in Pasteurized Donor Milk are Low for Preterm Infants.

P. Gulati, D. Bartholomew, S. Fernandez, 2010, The Journal of pediatrics.

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

K. Flanigan, D. Bartholomew, Emily Sites, 2019, Neuropediatrics.

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant

G. Herman, D. Bartholomew, Emily Hansen-Kiss, 2022, Journal of child neurology.

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

W. Sly, B. Graham, K. White, 2016, Journal of Medical Genetics.

De novo variants in ATP2B1 lead to neurodevelopmental delay.

B. D. de Vries, D. Koboldt, F. Gaunitz, 2022, American journal of human genetics.

SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

J. Shendure, D. Nickerson, Martin Kircher, 2016, American journal of medical genetics. Part A.

Potential and pitfalls of NBS, and the reference lab's role.

D. Bartholomew, 2007, MLO: medical laboratory observer.

Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.

K. McBride, D. Bartholomew, J. Pluciniczak, 2019, Genetics in Medicine.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, American journal of medical genetics. Part A.

Severe cystic fibrosis associated with a AF508/R347H + D979A compound heterozygous genotype

J. Fujita, S. Hojo, J. Takahara, 1998, Clinical genetics.

m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

D. Bartholomew, J. Mytinger, S. Hickey, 2014, JIMD reports.

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia

D. Bartholomew, C. Tsao, G. Wenger, 2005, American journal of medical genetics. Part A.

Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase

K. McBride, D. Bartholomew, T. M. Hoffman, 2009, Pediatric Cardiology.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

S. Cederbaum, N. Longo, Brendan H. Lee, 2013, Hepatology.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

J. Rosenfeld, B. V. van Bon, M. Fichera, 2011, American journal of human genetics.

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.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.

W. Chung, Q. Waisfisz, B. Gelb, 2020, American journal of human genetics.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

Daniel C. Koboldt, Peter White, Benjamin J. Kelly, 2018, Cold Spring Harbor molecular case studies.

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

J L Merritt, B F Scharschmidt, S. Cederbaum, 2012, Molecular genetics and metabolism.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2010, American journal of human genetics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

J. Rosenfeld, Yaping Yang, F. Xia, 2019, Molecular genetics & genomic medicine.

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

E. Alexov, M. Friez, Yunhui Peng, 2019, Journal of Human Genetics.

Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

D. Bartholomew, J. Rusin, L. Ruess, 2014, Pediatric neurology.

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

R. Wilson, D. Koboldt, D. Bartholomew, 2022, Cold Spring Harbor molecular case studies.

D. Bartholomew, V. Pai, R. Bajwa, 2018, Bone Marrow Transplantation.

2010 Publications - The Biopathology Center

P. Stankiewicz, J. Gastier-Foster, J. Mendell, 2010 .

Craniofacial‐deafness‐hand syndrome revisited

D. Bartholomew, A. Sommer, 2003, American journal of medical genetics. Part A.

High Mitochondrial DNA T8993G Mutation (>90%) Without Typical Features of Leigh's and NARP Syndromes

J. Mendell, D. Bartholomew, C. Tsao, 2001, Journal of child neurology.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

M. Marino, S. Cederbaum, J. Vockley, 2014, Genetics in Medicine.

Analysis of indications for referral to a multidisciplinary medical genetics clinic: implications for training programs in obstetrics and gynecology.

D. Bartholomew, A. Bombard, J. Flanagan, 1990, American Journal of Obstetrics and Gynecology.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

S. Cederbaum, N. Longo, Brendan H. Lee, 2013, Hepatology.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

R. Holt, J. Vockley, N. Longo, 2019, Molecular genetics and metabolism.

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

M. Marino, S. Cederbaum, J. Vockley, 2015, Molecular genetics and metabolism.

Prospective treatment of urea cycle disorders.

S. Brusilow, D. Bartholomew, E. Hauser, 1991, The Journal of pediatrics.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

S. Cederbaum, J. Vockley, N. Longo, 2014, Genetics in Medicine.

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

J. Gastier-Foster, D. Bartholomew, D. del Gaudio, 2013, European journal of medical genetics.