LaurenceEWalshMD

PubMed

• Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
  Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
• Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneu...
  Miller, D., Walsh, L., Smith, L., Supakul, N., Ho, C., Onishi, T.> ;Radiology Case Reports. 2024 Jan 1
• Readiness for Parkinson's disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic.
  Margaret Hackl, Lola Cook, Leah Wetherill, Laurence E Walsh, Paula Delk, Rebeca De León, Janfreisy Carbonell, Rossy Cruz Vicioso, Priscila Delgado Hodges> ;NPJ Parkinson's Disease. 2023 Aug 29
• Primary Erythromelalgia Treated With 10% Capsaicin Cream: A Case Report and a 10-Year Follow-Up.
  James A Tolley, Laurence E Walsh> ;Cureus. 2022 Aug 1
• 1 citations
  Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression
  Jennifer A. Brault, Laurence E. Walsh, Gail H. Vance, David D. Weaver> ;Journal of Pediatric Genetics. 2021 Sep 1
• 16 citations
  Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
  Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, ...> ;Genetics in Medicine. 2021 Aug 3
• 19 citations
  TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
  Lindsey D. Goodman, Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A. Koolen, Charlotte A. Haaxma, Hermine ...> ;American Journal of Human Genetics. 2021 Sep 2
• 2 citations
  Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
  Chang Y. Ho, Harrison L. Love, Deborah K. Sokol, Laurence E. Walsh> ;Radiology Case Reports. 2021 Mar 28
• 24 citations
  Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Genetics in Medicine. 2021 Mar 3
• 3 citations
  Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements.
  Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia, Joseph J. Melvin, Agustin Legido, Mayela M. Diaz-Diaz, Christopher C. Griffith, Lauren J. Massingham, Melissa Yelt...> ;Journal of Child Neurology. 2021 Feb 1
• 1 citations
  Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 May 1
• 6 citations
  Expanding the spectrum of CEP55‐associated disease to viable phenotypes
  Elizabeth S. Barrie, Eline Overwater, Mieke M. van Haelst, M. Mahdi Motazacker, Kristen V. Truxal, Erin Crist, Roya Mostafavi, Eniko K. Pivnick, Asim F. Choudhri, Tara...> ;American Journal of Medical Genetics. Part A. 2020 Feb 25
• 18 citations
  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 Feb 1
• 24 citations
  Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
  Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nan...> ;American Journal of Human Genetics. 2020 Jan 2
• 25 citations
  Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
  Stephanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea ...> ;Brain. 2019 Oct 1
• 28 citations
  Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
  Diana Le Duc, Cecilia R Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anag...> ;Brain. 2019 Sep 1
• 20 citations
  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.
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D Hicks, Arthur S Aylsworth, Amedeo A Azizi, Donald G Basel, Gary Bellus, Lynne M Bi...> ;Genetics in Medicine. 2019 Apr 1
• 5 citations
  Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment
  Katherine Nelson, Christopher Jackman, Jennifer E. Bell, Chie-Schin Shih, Katelyn Payne, Stephen R. Dlouhy, Laurence E. Walsh> ;Journal of Child Neurology. 2018 Oct 12
• 11 citations
  Movement Disorders and Neurometabolic Diseases.
  Celanie K. Christensen, Laurence E. Walsh> ;Seminars in Pediatric Neurology. 2018 Apr 1
• Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
  Laurence Walsh, Deborah A Nickerson, Katelyn Payne, Tahnee Causey, Bruce D Gelb, Douglas Larsen, Ghayda M Mirzaa, Naomi Meeks> ;Cell Press.
• Correction to: 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 correlat...
  Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald Basel, Gary Bellus, Lynne M. ...> ;Genetics in Medicine. 2018 Jan 1
• 9 citations
  CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
  Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timot...> ;Genetics in Medicine. 2017 Aug 1
• 35 citations
  WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
  Cara M. Skraban, Constance F. Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, P.Y. Billie Au, Amber Begtrup, John A. Bernat, Lynne M. Bird, Kajia Cao, Arjan P....> ;American Journal of Human Genetics. 2017 Jul 6
• 14 citations
  The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
  Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy M...> ;Genetics in Medicine. 2016 Nov 1
• 30 citations
  Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse,...> ;Mitochondrion. 2014 Jan 1
• Join now to see all