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Bartholomew, Dennis
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1

ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDO..:

Mori, Mari ; Villa, Caterina Abdala ; Zinsmeister, Michael...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107463 , 2023
Link: https://doi.org/10.1016/..
 
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2

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ..:

Arredondo, Kristen ; Myers, Cortlandt ; Hansen-Kiss, Emily...
Journal of Child Neurology.  37 (2022)  6 - p. 517-523 , 2022
Link: https://doi.org/10.1177/..
 
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3

Evaluating the mutational spectrum of SIN3A alterations: a ..:

Hickey, Scott ; Bartholomew, Dennis ; Truxal, Kristen...
Molecular Genetics and Metabolism.  132 (2021)  - p. S271-S272 , 2021
Link: https://doi.org/10.1016/..
 
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4

Utility of specific amino acid ratios in screening for pyru..:

Bedoyan, Jirair ; Hage, Rosemary ; Shin, Ha Kyung...
Molecular Genetics and Metabolism.  132 (2021)  - p. S6-S7 , 2021
Link: https://doi.org/10.1016/..
 
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5

Pathogenic variants inSMARCA5, a chromatin remodeler, cause..:

Li, Dong ; Wang, Qin ; Gong, Naihua N....
Science Advances.  7 (2021)  20 - p. , 2021
Link: https://doi.org/10.1126/..
 
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6

Utility of specific amino acid ratios in screening for pyru..:

Bedoyan, Jirair K. ; Hage, Rosemary ; Shin, Ha Kyung...
JIMD Reports.  56 (2020)  1 - p. 70-81 , 2020
Link: https://doi.org/10.1002/..
 
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7

Long-term safety and efficacy of glycerol phenylbutyrate fo..:

Diaz, George A. ; Schulze, Andreas ; Longo, Nicola...
Molecular Genetics and Metabolism.  127 (2019)  4 - p. 336-345 , 2019
Link: https://doi.org/10.1016/..
 
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8

Phenylalanine and tyrosine measurements across gestation by..:

McBride, Kim L. ; Pluciniczak, Jill ; Rhyand, Timothy.
Genetics in Medicine.  21 (2019)  8 - p. 1821-1826 , 2019
Link: https://doi.org/10.1038/..
 
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9

Three additional patients with EED-associated overgrowth: p..:

Spellicy, Catherine J. ; Peng, Yunhui ; Olewiler, Leah...
Journal of Human Genetics.  64 (2019)  6 - p. 561-572 , 2019
Link: https://doi.org/10.1038/..
 
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10

Clinically severe CACNA1A alleles affect synaptic function ..:

Luo, Xi ; Rosenfeld, Jill A. ; Yamamoto, Shinya...
PLOS Genetics.  13 (2017)  7 - p. e1006905 , 2017
Link: https://doi.org/10.1371/..
 
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11

Clinical course of sly syndrome (mucopolysaccharidosis type..:

Montaño, Adriana M ; Lock-Hock, Ngu ; Steiner, Robert D...
Journal of Medical Genetics.  53 (2016)  6 - p. 403-418 , 2016
Link: https://doi.org/10.1136/..
 
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12

Blood ammonia and glutamine as predictors of hyperammonemic..:

Lee, Brendan ; Diaz, George A. ; Rhead, William...
Genetics in Medicine.  17 (2015)  7 - p. 561-568 , 2015
Link: https://doi.org/10.1038/..
 
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13

Self-reported treatment-associated symptoms among patients ..:

Nagamani, Sandesh C.S. ; Diaz, George A. ; Rhead, William...
Molecular Genetics and Metabolism.  116 (2015)  1-2 - p. 29-34 , 2015
Link: https://doi.org/10.1016/..
 
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14

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizur..:

Lalani, Seema R. ; Zhang, Jing ; Schaaf, Christian P....
The American Journal of Human Genetics.  95 (2014)  5 - p. 579-583 , 2014
Link: https://doi.org/10.1016/..
 
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15

MCPH1 deletion in a newborn with severe microcephaly and pr..:

Pfau, Ruthann B. ; Thrush, Devon Lamb ; Hamelberg, Elizabeth...
European Journal of Medical Genetics.  56 (2013)  11 - p. 609-613 , 2013
Link: https://doi.org/10.1016/..
 
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