Larry Walsh

  • Associate Professor of Clinical Neurology, Neurology
  • 776 Citations
  • 14 h-Index
1993 …2020

Research output per year

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Publications

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Article
2020

Expanding the spectrum of CEP55-associated disease to viable phenotypes

Barrie, E. S., Overwater, E., van Haelst, M. M., Motazacker, M. M., Truxal, K. V., Crist, E., Mostafavi, R., Pivnick, E. K., Choudhri, A. F., Narumanchi, T. C., Castelluccio, V., Walsh, L. E., Garganta, C. & Gastier-Foster, J. M., May 1 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 1201-1208 8 p.

Research output: Contribution to journalArticle

2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 867-876 10 p.

Research output: Contribution to journalArticle

14 Scopus citations
2018

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

The University of Washington Center for Mendelian Genomics, Feb 1 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

35 Scopus citations

Movement Disorders and Neurometabolic Diseases

Christensen, C. K. & Walsh, L., Apr 2018, In : Seminars in Pediatric Neurology. 25, p. 82-91 10 p.

Research output: Contribution to journalArticle

4 Scopus citations

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment

Nelson, K., Jackman, C., Bell, J., Shih, C-S., Payne, K., Dlouhy, S. & Walsh, L., Dec 1 2018, In : Journal of Child Neurology. 33, 14, p. 925-929 5 p.

Research output: Contribution to journalArticle

2017

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

Vivero, M., Cho, M. T., Begtrup, A., Wentzensen, I. M., Walsh, L., Payne, K., Zarate, Y. A., Bosanko, K., Schaefer, G. B., Debrosse, S., Pollack, L., Mason, K., Retterer, K., Deward, S., Juusola, J. & Chung, W. K., 2017, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

4 Scopus citations

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Skraban, C. M., Wells, C. F., Markose, P., Cho, M. T., Nesbitt, A. I., Au, P. Y. B., Begtrup, A., Bernat, J. A., Bird, L. M., Cao, K., de Brouwer, A. P. M., Denenberg, E. H., Douglas, G., Gibson, K. M., Grand, K., Goldenberg, A., Innes, A. M., Juusola, J., Kempers, M., Kinning, E. & 19 others, Markie, D. M., Owens, M. M., Payne, K., Person, R., Pfundt, R., Stocco, A., Turner, C. L. S., Verbeek, N. E., Walsh, L. E., Warner, T. C., Wheeler, P. G., Wieczorek, D., Wilkens, A. B., Zonneveld-Huijssoon, E., Kleefstra, T., Robertson, S. P., Santani, A., van Gassen, K. L. I. & Deardorff, M. A., Jul 6 2017, In : American Journal of Human Genetics. 101, 1, p. 139-148 10 p.

Research output: Contribution to journalArticle

13 Scopus citations
2016

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations

Chen, C. A., Bosch, D. G. M., Cho, M. T., Rosenfeld, J. A., Shinawi, M., Lewis, R. A., Mann, J., Jayakar, P., Payne, K., Walsh, L., Moss, T., Schreiber, A., Schoonveld, C., Monaghan, K. G., Elmslie, F., Douglas, G., Boonstra, F. N., Millan, F., Cremers, F. P. M., McKnight, D. & 15 others, Richard, G., Juusola, J., Kendall, F., Ramsey, K., Anyane-Yeboa, K., Malkin, E., Chung, W. K., Niyazov, D., Pascual, J. M., Walkiewicz, M., Veluchamy, V., Li, C., Hisama, F. M., De Vries, B. B. A. & Schaaf, C., Nov 1 2016, In : Genetics in Medicine. 18, 11, p. 1143-1150 8 p.

Research output: Contribution to journalArticle

24 Scopus citations
2014

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Collins, A., Cohen, B. H., DeBrosse, S. D., Dimmock, D., Falk, M. J., Ganesh, J., Greene, C., Gropman, A. L., Haas, R., Kahler, S. G., Kamholz, J., Kendall, F., Korson, M. S. & 12 others, Mattman, A., Milone, M., Niyazov, D., Pearl, P. L., Reimschisel, T., Salvarinova-Zivkovic, R., Sims, K., Tarnopolsky, M., Tsao, C. Y., van Hove, J., Walsh, L. & Wolfe, L. A., Jan 1 2014, In : Mitochondrion. 14, 1, p. 26-33 8 p.

Research output: Contribution to journalArticle

24 Scopus citations
2012

Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: A phase 2 trial

Robertson, K. A., Nalepa, G., Yang, F. C., Bowers, D. C., Ho, C. Y., Hutchins, G. D., Croop, J. M., Vik, T. A., Denne, S. C., Parada, L. F., Hingtgen, C. M., Walsh, L. E., Yu, M., Pradhan, K. R., Edwards-Brown, M. K., Cohen, M. D., Fletcher, J. W., Travers, J. B., Staser, K. W., Lee, M. W. & 5 others, Sherman, M. R., Davis, C. J., Miller, L. C., Ingram, D. A. & Clapp, D. W., Dec 1 2012, In : The Lancet Oncology. 13, 12, p. 1218-1224 7 p.

Research output: Contribution to journalArticle

112 Scopus citations

In Memorium: Bhuwan Garg, MBBS (1944-2012).

Walsh, L. E. & Patel, H., Oct 2012, In : Journal of child neurology. 27, 10, p. 1360-1362 3 p.

Research output: Contribution to journalArticle

2011

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Kortüm, F., Das, S., Flindt, M., Morris-Rosendahl, D. J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L. E., Wieczorek, D., Uyanik, G., Kutsche, K. & Dobyns, W. B., Jun 2011, In : Journal of Medical Genetics. 48, 6, p. 396-406 11 p.

Research output: Contribution to journalArticle

135 Scopus citations
2010

Is it ADEM, POLG, or both?

Harris, M. O., Walsh, L. E., Hattab, E. M. & Golomb, M. R., Apr 1 2010, In : Archives of Neurology. 67, 4, p. 493-496 4 p.

Research output: Contribution to journalArticle

22 Scopus citations
2009

Rituximab for the treatment of thymoma-associated and de novo myasthenia gravis: 3 cases and review

Nelson, R. P., Pascuzzi, R. M., Kessler, K., Walsh, L. E., Faught, P. P., Ramanuja, S., Pescovitz, M. D. & Loehrer, P. J., Jun 1 2009, In : Journal of Clinical Neuromuscular Disease. 10, 4, p. 170-177 8 p.

Research output: Contribution to journalArticle

32 Scopus citations
2008

Simultaneous toxicities in a child on multiple anticonvulsants

Delima, S. I. R., Walsh, L. E. & Golomb, M. R., Sep 3 2008, In : Journal of Child Neurology. 23, 9, p. 1054-1057 4 p.

Research output: Contribution to journalArticle

2 Scopus citations
2007

Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation

Gorman, M. P., Golomb, M. R., Walsh, L. E., Hobson, G. M., Garbern, J. Y., Kinkel, R. P., Darras, B. T., Urion, D. K. & Eksioglu, Y. Z., Apr 1 2007, In : Neurology. 68, 16, p. 1305-1307 3 p.

Research output: Contribution to journalArticle

26 Scopus citations

The Impact of Pelizaeus-Merzbacher Disease on the Family

McGuire, L. M., Williams, L. S., Walsh, L. E., DeMyer, W. E. & Golomb, M. R., Feb 1 2007, In : Pediatric Neurology. 36, 2, p. 101-105 5 p.

Research output: Contribution to journalArticle

Two cases further delineating the Sakoda complex

Dempsey, M. A., Torres-Martinez, W. & Walsh, L. E., Feb 15 2007, In : American Journal of Medical Genetics, Part A. 143, 4, p. 370-376 7 p.

Research output: Contribution to journalArticle

3 Scopus citations
2006

Chiari in the Family: Inheritance of the Chiari I Malformation

Szewka, A. J., Walsh, L. E., Boaz, J. C., Carvalho, K. S. & Golomb, M. R., Jun 1 2006, In : Pediatric Neurology. 34, 6, p. 481-485 5 p.

Research output: Contribution to journalArticle

25 Scopus citations

Family history is a poor screen for prothrombotic genes in children with stroke

Johal, S. C., Garg, B. P., Heiny, M. E., Williams, L. S., Saha, C., Walsh, L. E. & Golomb, M. R., Jan 2006, In : Journal of Pediatrics. 148, 1, p. 68-71 4 p.

Research output: Contribution to journalArticle

9 Scopus citations
2005

A child with Friedreich's ataxia and epilepsy

Golomb, M. R., Illner, A., Christensen, C. K. & Walsh, L. E., Mar 2005, In : Journal of Child Neurology. 20, 3, p. 248-250 3 p.

Research output: Contribution to journalArticle

3 Scopus citations
2004

Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases

Font-Montgomery, E., Weaver, D. D., Walsh, L., Christensen, C. & Thurston, V. C., Jun 1 2004, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 70, 6, p. 408-415 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Clinical findings in Pelizaeus-Merzbacher disease

Golomb, M. R., Walsh, L. E., Carvalho, K. S., Christensen, C. K. & DeMyer, W. E., May 2004, In : Journal of Child Neurology. 19, 5, p. 328-331 4 p.

Research output: Contribution to journalArticle

17 Scopus citations

Recurrent hemiplegia, normal MRI, and NOTCH3 mutation in a 14-year-old: Is this early CADASIL?

Golomb, M. R., Sokol, D. K., Walsh, L. E., Christensen, C. K. & Garg, B. P., Jun 22 2004, In : Neurology. 62, 12, p. 2331-2332 2 p.

Research output: Contribution to journalArticle

20 Scopus citations
2003

Vermian hypoplasia and arrested cerebral myelination in two sisters: Variant of Joubert's syndrome or a new syndrome?

DeMyer, W., Espay, A., Walsh, L., Benes, S. & Edwards-Brown, M., Nov 2003, In : Journal of Child Neurology. 18, 11, p. 755-762 8 p.

Research output: Contribution to journalArticle

2001

Clinical approach to the child with a large head

Garg, B. P. & Walsh, L., Sep 2001, In : Indian journal of pediatrics. 68, 9, p. 867-871 5 p.

Research output: Contribution to journalArticle

4 Scopus citations
57 Scopus citations

Inherited epilepsies

Walsh, L. E. & McCandless, D., Jan 1 2001, In : Seminars in Pediatric Neurology. 8, 3, p. 165-176 12 p.

Research output: Contribution to journalArticle

1 Scopus citations
1997

Ischemic Strokes in Children

Walsh, L. E. & Garg, B. P., Jan 1 1997, In : Indian journal of pediatrics. 64, 5, p. 613-623 11 p.

Research output: Contribution to journalArticle

8 Scopus citations
1993

Neurologic complications of pediatric liver transplantation

Garg, B. P., Walsh, L. E., Pescovitz, M. D., Patel, H., Chong, S., Filo, R. S. & Fitzgerald, J., Jan 1 1993, In : Pediatric Neurology. 9, 6, p. 444-448 5 p.

Research output: Contribution to journalArticle

13 Scopus citations

Rapid-onset dystonia-parkinsonism

Dobyns, W. B., Ozelius, L. J., Kramer, P. L., Brashear, A., Farlow, M. R., Perry, T. R., Walsh, L. E., Kasarskis, E. J., Butler, I. J. & Breakefield, X. O., Dec 1993, In : Neurology. 43, 12, p. 2596-2602 7 p.

Research output: Contribution to journalArticle

144 Scopus citations