Lisa Kratz

2023

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem

Forsyth, R. L., Peretz, R. H., Dempsey, A., Britton, J., Kratz, L., Hamosh, A., Vernon, H., Batshaw, M. L. & Valle, D., May 2023, In: JIMD Reports. 64, 3, p. 233-237 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

ATRX loss promotes immunosuppressive mechanisms in IDH1 mutant glioma

Hu, C., Wang, K., Damon, C., Fu, Y., Ma, T., Kratz, L., Lal, B., Ying, M., Xia, S., Cahill, D. P., Jackson, C. M., Lim, M., Laterra, J. & Li, Y., Jun 1 2022, In: Neuro-oncology. 24, 6, p. 888-900 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Clinical characterization of a new individual with mild SC4MOL deficiency: diagnostic and therapeutic implications

Morales, J. A., Curry, C. J., Tise, C. G., Kratz, L. & Enns, G. M., 2022, In: Journal of Translational Genetics and Genomics. 6, 2, p. 257-265 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Disorders of Cholesterol Biosynthesis

Kratz, L. E. & Kelley, R. I., Jan 1 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. Springer International Publishing, p. 1057-1076 20 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

Poll, S. R., Martin, R., Wohler, E., Partan, E. S., Walek, E., Salman, S., Groepper, D., Kratz, L., Cernach, M., Jesus-Garcia, R., Haldeman-Englert, C., Choi, Y. J., Morris, C. D., Cohen, B., Hoover-Fong, J., Valle, D., Semenza, G. L. & Sobreira, N. L. M., Dec 8 2022, In: PLoS genetics. 18, 12, p. 1DUMMARY e1010504.

Research output: Contribution to journal › Article › peer-review

Open Access

Fumaric aciduria: A rare cause of refractory epilepsy

Yoganathan, S., Srinivasaraghavan, R., Kumar, M., Kratz, L., Mular, S., Sudhakar, S. V., Malik, P., Chandran, M., Thomas, M. & Danda, S., Jul 1 2022, In: Annals of Indian Academy of Neurology. 25, 4, p. 738-740 3 p.

Research output: Contribution to journal › Letter › peer-review

2021

Attenuated form of glycine encephalopathy: An unusual cause of neurodevelopmental disorder

Yoganathan, S., Srinivasaraghavan, R., Chandran, M., Kratz, L., Koshy, B., Sudhakar, S. V., Arunachal, G., Thomas, M. & Danda, S., Mar 1 2021, In: Annals of Indian Academy of Neurology. 24, 2, p. 261-264 4 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder

Srinivasaraghavan, R., Sharma, S., Kratz, L., Malik, P., Yoganathan, S., Danda, S. & Oommen, S., Nov 1 2021, In: Annals of Indian Academy of Neurology. 24, 6, p. 933-934 2 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1-1343 + 3delGTAinsTT in ALDH5A1

Yoganathan, S., Arunachal, G., Kratz, L., Varman, M., Thomas, M., Sudhakar, S. V., Oommen, S. P. & Danda, S., Mar 1 2021, In: Annals of Indian Academy of Neurology. 24, 2, p. 259-261 3 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Tierney, E., Remaley, A. T., Thurm, A., Jager, L. R., Wassif, C. A., Kratz, L. E., Bailey-Wilson, J. E., Bukelis, I., Sarphare, G., Jung, E. S., Brand, B., Noah, K. K. & Porter, F. D., Dec 2021, In: Translational psychiatry. 11, 1, 471.

Research output: Contribution to journal › Article › peer-review

Open Access

2020

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Collins, M., Miranda, V., Rousseau, J., Kratz, L. E. & Campeau, P. M., Dec 2020, In: Bone. 141, 115601.

Research output: Contribution to journal › Article › peer-review

Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder

Yoganathan, S., Arunachal, G., Kratz, L., Varman, M., Sudhakar, S., Oommen, S., Jain, S., Thomas, M. & Babuji, M., May 1 2020, In: Annals of Indian Academy of Neurology. 23, 3, p. 419-421 3 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

1 Scopus citations

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

on behalf of the ACMG Laboratory Quality Assurance Committee, Apr 1 2020, In: Genetics in Medicine. 22, 4, p. 686-697 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

Yoganathan, S., Arunachal, G., Kratz, L., Varman, M., Thomas, M., Sudhakar, S. V., Oommen, S. P. & Danda, S., Jan 1 2020, In: Annals of Indian Academy of Neurology. 23, 1, p. 113-117 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

MacEda, E. B. G., Kratz, L. E., Ramos, V. M. E. & Abacan, M. A. R., Nov 2 2020, In: BMJ case reports. 13, 11, e236859.

Research output: Contribution to journal › Article › peer-review

Open Access

2019

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

Thompson, E., Abdalla, E., Superti-Furga, A., McAlister, W., Kratz, L., Unger, S., Royer-Bertrand, B., Campos-Xavier, B., Mittaz-Crettol, L., Amin, A. K., DeSanto, C., Wilson, D. B., Douglas, G., Kozel, B. & Shinawi, M., Mar 2019, In: Bone. 120, p. 354-363 10 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Severe neonatal manifestations of infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency

Peroutka, C., Salas, J., Britton, J., Bishop, J., Kratz, L., Gilmore, M. M., Fahrner, J. A., Golden, W. C. & Wang, T., 2019, JIMD Reports. Springer, p. 71-76 6 p. (JIMD Reports; vol. 45).

Research output: Chapter in Book/Report/Conference proceeding › Chapter

7 Scopus citations

2018

Elevated creatinine in a patient on IVIG-therapy

Knezevic, C. E., Ness, M. A., Kratz, L. E. & Marzinke, M. A., Nov 2018, In: Clinica Chimica Acta. 486, p. 94-97 4 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Heterozygous IDH1 ^R132H/WT created by “single base editing” inhibits human astroglial cell growth by downregulating YAP

Wei, S., Wang, J., Oyinlade, O., Ma, D., Wang, S., Kratz, L., Lal, B., Xu, Q., Liu, S., Shah, S. R., Zhang, H., Li, Y., Quiñones-Hinojosa, A., Zhu, H., Huang, Z. Y., Cheng, L., Qian, J. & Xia, S., Sep 20 2018, In: Oncogene. 37, 38, p. 5160-5174 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

2017

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome

Wassif, C. A., Kratz, L., Sparks, S. E., Wheeler, C., Bianconi, S., Gropman, A., Calis, K. A., Kelley, R. I., Tierney, E. & Porter, F. D., Mar 1 2017, In: Genetics in Medicine. 19, 3, p. 297-305 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

Randomized open-label trial of dextromethorphan in Rett syndrome

Smith-Hicks, C. L., Gupta, S., Ewen, J. B., Hong, M., Kratz, L., Kelley, R., Tierney, E., Vaurio, R., Bibat, G., Sanyal, A., Yenokyan, G., Brereton, N., Johnston, M. V. & Naidu, S., Oct 17 2017, In: Neurology. 89, 16, p. 1684-1690 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

2016

2-Ethylhexanoic acid, found in common plasticizers, leads to an artificial increase in C8 acylcarnitine levels in two neonates treated with extracorporeal membrane oxygenation (ECMO)

Kratz, L. & Albert, J., Oct 1 2016, In: Clinica Chimica Acta. 461, p. 59-60 2 p.

Research output: Contribution to journal › Letter › peer-review

5 Scopus citations

Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes

Edmunds, L. R., Otero, P. A., Sharma, L., D'Souza, S., Dolezal, J. M., David, S., Lu, J., Lamm, L., Basantani, M., Zhang, P., Sipula, I. J., Li, L., Zeng, X., Ding, Y., Ding, F., Beck, M. E., Vockley, J., Monga, S. P. S., Kershaw, E. E., O'Doherty, R. M., & 6 othersKratz, L. E., Yates, N. A., Goetzman, E. P., Scott, D., Duncan, A. W. & Prochownik, E. V., May 24 2016, In: Oncotarget. 7, 21, p. 30379-30395 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

Driver, A. M., Kratz, L. E., Kelley, R. I. & Stottmann, R. W., Jul 1 2016, In: Neurobiology of Disease. 91, p. 69-82 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

2015

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome

Posey, J. E., Burrage, L. C., Campeau, P. M., Lu, J. T., Eble, T. N., Kratz, L., Schlesinger, A. E., Gibbs, R. A., Lee, B. H. & Nagamani, S. C. S., Jun 1 2015, In: American Journal of Medical Genetics, Part A. 167, 6, p. 1309-1314 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR

Gabitova, L., Restifo, D., Gorin, A., Manocha, K., Handorf, E., Yang, D. H., Cai, K. Q., Klein-Szanto, A. J., Cunningham, D., Kratz, L. E., Herman, G. E., Golemis, E. A. & Astsaturov, I., Sep 22 2015, In: Cell Reports. 12, 11, p. 1927-1938 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

45 Scopus citations

2014

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

Sparks, S. E., Wassif, C. A., Goodwin, H., Conley, S. K., Lanham, D. C., Kratz, L. E., Hyland, K., Gropman, A., Tierney, E. & Porter, F. D., May 2014, In: Journal of Inherited Metabolic Disease. 37, 3, p. 415-420 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

Desmosterolosis: An illustration of diagnostic ambiguity of cholesterol synthesis disorders

Dias, C., Rupps, R., Millar, B., Choi, K., Marra, M., Demos, M., Kratz, L. E. & Boerkoel, C. F., Jun 25 2014, In: Orphanet journal of rare diseases. 9, 1, 94.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Scopus citations

2013

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

Gauthier, N., Wu, J. W., Wang, S. P., Allard, P., Mamer, O. A., Sweetman, L., Moser, A. B., Kratz, L., Alvarez, F., Robitaille, Y., Lépine, F. & Mitchell, G. A., Jul 5 2013, In: PloS one. 8, 7, e60581.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation

Sukhanova, A., Gorin, A., Serebriiskii, I. G., Gabitova, L., Zheng, H., Restifo, D., Egleston, B. L., Cunningham, D., Bagnyukova, T., Liu, H., Nikonova, A., Adams, G. P., Zhou, Y., Yang, D. H., Mehra, R., Burtness, B., Cai, K. Q., Klein-Szanto, A., Kratz, L. E., Kelley, R. I., & 4 othersWeiner, L. M., Herman, G. E., Golemis, E. A. & Astsaturov, I., Jan 2013, In: Cancer discovery. 3, 1, p. 96-112 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

41 Scopus citations

2012

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Sandlers, Y., Moser, A. B., Hubbard, W. C., Kratz, L. E., Jones, R. O. & Raymond, G. V., Mar 2012, In: Molecular genetics and metabolism. 105, 3, p. 416-420 5 p.

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome

Herman, G. E. & Kratz, L., Nov 15 2012, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 160 C, 4, p. 301-321 21 p.

Research output: Contribution to journal › Article › peer-review

25 Scopus citations

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner

Clark, P. J., Thompson, A. J., Vock, D. M., Kratz, L. E., Tolun, A. A., Muir, A. J., Mchutchison, J. G., Subramanian, M., Millington, D. M., Kelley, R. I. & Patel, K., Jul 2012, In: Hepatology. 56, 1, p. 49-56 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

61 Scopus citations

2011

Cholesterol metabolism is required for intracellular Hedgehog signal transduction in vivo

Stottmann, R. W., Turbe-Doan, A., Tran, P., Kratz, L. E., Moran, J. L., Kelley, R. I. & Beier, D. R., Sep 2011, In: PLoS genetics. 7, 9, e1002224.

Research output: Contribution to journal › Article › peer-review

Open Access

35 Scopus citations

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature

Schaaf, C. P., Koster, J., Katsonis, P., Kratz, L., Shchelochkov, O. A., Scaglia, F., Kelley, R. I., Lichtarge, O., Waterham, H. R. & Shinawi, M., Jul 2011, In: American Journal of Medical Genetics, Part A. 155, 7, p. 1597-1604 8 p.

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

He, M., Kratz, L. E., Michel, J. J., Vallejo, A. N., Ferris, L., Kelley, R. I., Hoover, J. J., Jukic, D., Gibson, K. M., Wolfe, L. A., Ramachandran, D., Zwick, M. E. & Vockley, J., Mar 1 2011, In: Journal of Clinical Investigation. 121, 3, p. 976-984 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

59 Scopus citations

2010

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

Pei, W., Kratz, L. E., Bernardini, I., Sood, R., Yokogawa, T., Dorward, H., Ciccone, C., Kelley, R. I., Anikster, Y., Burgess, H. A., Huizing, M. & Feldman, B., Aug 1 2010, In: Development. 137, 15, p. 2587-2596 10 p.

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

Niu, D. M., Chong, K. W., Hsu, J. H., Wu, T. J. T., Yu, H. C., Huang, C. H., Lo, M. Y., Kwok, C. F., Kratz, L. E. & Ho, L. T., Aug 2010, In: Journal of Inherited Metabolic Disease. 33, 4, p. 437-443 7 p.

Research output: Contribution to journal › Article › peer-review

40 Scopus citations

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

McLarren, K. W., Severson, T. M., Du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., An, J., Nelson, T. N., Chou, A., Debarber, A. E., Merkens, L. S., Michaud, J. L., Waters, P. J., Yin, J., McGillivray, B., Demos, M., & 20 othersRouleau, G. A., Grzeschik, K. H., Smith, R., Tarpey, P. S., Shears, D., Schwartz, C. E., Gecz, J., Stratton, M. R., Arbour, L., Hurlburt, J., Van Allen, M. I., Herman, G. E., Zhao, Y., Moore, R., Kelley, R. I., Jones, S. J. M., Steiner, R. D., Raymond, F. L., Marra, M. A. & Boerkoel, C. F., Dec 10 2010, In: American journal of human genetics. 87, 6, p. 905-914 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

35 Scopus citations

2007

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz Syndrome (SLOS)

Shackleton, C. H. L., Marcos, J., Palomaki, G. E., Craig, W. Y., Kelley, R. I., Kratz, L. E. & Haddow, J. E., Sep 15 2007, In: American Journal of Medical Genetics, Part A. 143, 18, p. 2129-2136 8 p.

Research output: Contribution to journal › Article › peer-review

34 Scopus citations

2006

Abnormalities of cholesterol metabolism in autism spectrum disorders

Tierney, E., Bukelis, I., Thompson, R. E., Ahmed, K., Aneja, A., Kratz, L. & Kelley, R. I., Sep 5 2006, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 141, 6, p. 666-668 3 p.

Research output: Contribution to journal › Article › peer-review

Open Access

94 Scopus citations

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy

Correa-Cerro, L. S., Wassif, C. A., Kratz, L., Miller, G. F., Munasinghe, J. P., Grinberg, A., Fliesler, S. J. & Porter, F. D., Mar 2006, In: Human molecular genetics. 15, 6, p. 839-851 13 p.

Research output: Contribution to journal › Article › peer-review

48 Scopus citations

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome

Craig, W. Y., Haddow, J. E., Palomaki, G. E., Kelley, R. I., Kratz, L. E., Shackleton, C. H. L., Marcos, J., Stephen Tint, G., MacRae, A. R., Nowaczyk, M. J., Kloza, E. M., Irons, M. B. & Roberson, M., Sep 2006, In: Prenatal Diagnosis. 26, 9, p. 842-849 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

44 Scopus citations

Noninvasive Assessment of Brain Injury in a Canine Model of Hypothermic Circulatory Arrest Using Magnetic Resonance Spectroscopy

Barreiro, C. J., Williams, J. A., Fitton, T. P., Lange, M. S., Blue, M. E., Kratz, L., Barker, P. B., Degaonkar, M., Gott, V. L., Troncoso, J. C., Johnston, M. V. & Baumgartner, W. A., May 2006, In: Annals of Thoracic Surgery. 81, 5, p. 1593-1598 6 p.

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

Valproic Acid Prevents Brain Injury in a Canine Model of Hypothermic Circulatory Arrest: A Promising New Approach to Neuroprotection During Cardiac Surgery

Williams, J. A., Barreiro, C. J., Nwakanma, L. U., Lange, M. S., Kratz, L. E., Blue, M. E., Berrong, J., Patel, N. D., Gott, V. L., Troncoso, J. C., Johnston, M. V. & Baumgartner, W. A., Jun 2006, In: Annals of Thoracic Surgery. 81, 6, p. 2235-2242 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

24 Scopus citations

2003

Clinical variability in Rett syndrome

Naidu, S. B., Bibat, G., Kratz, L., Kelley, R. I., Pevsner, J., Hoffman, E., Cuffari, C., Rohde, C., Blue, M. E. & Johnston, M. V., Oct 2003, In: Journal of child neurology. 18, 10, p. 662-668 7 p.

Research output: Contribution to journal › Article › peer-review

38 Scopus citations

Lathosterolosis: An inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

Krakowiak, P. A., Wassif, C. A., Kratz, L., Cozma, D., Kovářová, M., Harris, G., Grinberg, A., Yang, Y., Hunter, A. G. W., Tsokos, M., Kelley, R. I. & Porter, F. D., Jul 1 2003, In: Human molecular genetics. 12, 13, p. 1631-1641 11 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

107 Scopus citations

Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge

Kwiterovich, P. O., Chen, S. C., Virgil, D. G., Schweitzer, A., Arnold, D. R. & Kratz, L. E., Jun 2003, In: Journal of Lipid Research. 44, 6, p. 1143-1155 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

31 Scopus citations

2002

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Kelley, R. I., Kratz, L. E., Glaser, R. L., Netzloff, M. L., Wolf, L. M. & Jabs, E. W., Jun 15 2002, In: American journal of medical genetics. 110, 2, p. 95-102 8 p.

Research output: Contribution to journal › Article › peer-review

81 Scopus citations

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

Andersson, H. C., Kratz, L. & Kelley, R., Dec 15 2002, In: American journal of medical genetics. 113, 4, p. 315-319 5 p.

Research output: Contribution to journal › Article › peer-review

81 Scopus citations

Lisa Kratz

Research output

Search results