LaurieSultzSadlerMD

PubMed

• Impaired wound healing following cranial vault reconstruction in a patient with an atypical phenotype of Marfan syndrome: A case report.
  Matthew J Recker, Nathaniel Kronenwetter, Renée M Reynolds, Laurie S Sadler, Michael R Markiewicz> ;Surgical Neurology International. 2022 Jan 1
• 6 citations
  The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.
  Nadav I. Weinstock, Laurie S. Sadler> ;American Journal of Medical Genetics. Part A. 2021 Oct 14
• 34 citations
  Mutation update for the SATB2 gene
  Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry-Kravis, Paul R. Mark, Melanie A. Ma...> ;Human Mutation. 2019 Jan 1
• 70 citations
  HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
  Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta, Daniel Bauer, Renske Oegema, Caroline Nava, Elena Parrini, Davide Mei, Catherine Mercer,...> ;Brain. 2018 Nov 1
• 35 citations
  Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
  Simon Edvardson, Claudia M. Nicolae, Pankaj B. Agrawal, Cyril Mignot, Katelyn Payne, Asuri N. Prasad, Chitra Prasad, Laurie S. Sadler, Caroline Nava, Thomas E. Mullen,...> ;American Journal of Human Genetics. 2017 Aug 3
• 134 citations
  Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
  Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira Irons, Ingrid A. Holm, Laurie S. Sadler, Ericka Okenfu...> ;American Journal of Human Genetics. 2009 Mar 13
• 195 citations
  Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
  Jennifer J. Johnston, Isabelle M. Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. A...> ;American Journal of Human Genetics. 2005 Apr 1
• 19 citations
  Delay in Diagnosis of Williams Syndrome
  Lennox Huang, Laurie S. Sadler, Mary Ann O'Riordan, Nathaniel H. Robin> ;Clinical Pediatrics. 2002 May 1
• 37 citations
  Differences by sex in cardiovascular disease in Williams syndrome.
  Laurie S. Sadler, Barbara R. Pober, Andrew Grandinetti, Dora Scheiber, György Fekete, Alok N. Sharma, Zsolt Urban> ;The Journal of Pediatrics. 2001 Dec 1
• 20 citations
  Early puberty in Williams syndrome.
  Elizabeth M. Cherniske, Laurie S. Sadler, Dana Schwartz, Thomas O. Carpenter, Barbara R. Pober> ;Clinical Dysmorphology. 1999 Apr 1
• 34 citations
  Carotid ultrasound examination in Williams syndrome
  Laurie S. Sadler, Robert L. Gingell, David J. Martin> ;The Journal of Pediatrics. 1998 Feb 1
• 7 citations
  Subnormal Binocular Vision in the Williams Syndrome
  Scott E. Olitsky, Laurie S. Sadler, James D. Reynolds> ;Journal of Pediatric Ophthalmology and Strabismus. 1997 Jan 1
• 11 citations
  Reduced stereoacuity in Williams syndrome.
  Laurie S. Sadler, Scott E. Olitsky, James D. Reynolds> ;American Journal of Medical Genetics. 1996 Dec 18
• 6 citations
  Diabetic embryopathy: possible pathogenesis.
  Laurie S. Sadler, Luther K. Robinson, Michael E. Msall> ;American Journal of Medical Genetics. 1995 Jan 30
• 53 citations
  The Williams syndrome: evidence for possible autosomal dominant inheritance.
  Laurie S. Sadler, Luther K. Robinson, Kathleen R. Verdaasdonk, Rebert Gingell> ;American Journal of Medical Genetics. 1993 Sep 15
• 18 citations
  Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family.
  Laurie S. Sadler, Luther K. Robinson> ;American Journal of Medical Genetics. 1993 Aug 1
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Journal Articles

• A Possible Case of Facio-Auriclo-Vertebral Sequence (FAVs) in an Adult Female from Medieval Iceland (13th-16th Century)  
  Hoffman S, Sadler L, Totman T, Bagne L, Int J Paleopathol, 1/1/2019
• HCN1 Mutation Spectrum: From Neonatal Epileptic Encephalopathy to Benign Generalized Epilepsy and Beyond  
  Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thevenon J, Kuentz P, Julia..., Brain, 1/1/2018
• Heterozygous De Novo UBTF Gain-of-Function Variant is Associated with Neurodegeneration in Childhood  
  Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, ..., Am J Hum Genet, 1/1/2017
• Lip pits: an uncommon finding associated with underlying genodermatoses and developmental anomalies  
  Alex L, Xu H, Anain SA, Sadler LS, Helm TN, NAJMS, 1/1/2015
• Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski type and Metatropic Dysplasia  
  Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B..., Am J Hum Genet, 1/1/2009
• Psychiatric diagnoses in patients with Williams syndrome and their families  
  Kennedy JC, Kaye DL, Sadler LS, Jeff J Psychiatry, 1/1/2006
• Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations  
  Johnsson JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flan..., Am J Hum Genet, 1/1/2005
• Delay in diagnosis of Williams syndrome  
  Huang L, Sadler L, O�Riordan MA, Robin NH, Clin Pediatr, 1/1/2002
• Gender differences in cardiovascular disease in Williams syndrome  
  Sadler LS, Pober BR, Grandinetti A, Scheiber D, Fekete G, Sharma A, Urban Z, J Pediatr, 1/1/2001
• Medical Guidelines for Williams Syndrome  
  Morris CA, Pober B, Wang P, Levinson M, Sadler L, Kaplan P, Lacro R, Greenberg F, Pediatrics, 1/1/2001
• Early puberty in Williams syndrome  
  Cherniske EM, Sadler LS, Schwartz D, Carpenter TO, Pober BR, Clin Dysmorph, 1/1/1999
• Carotid ultrasound examination in the Williams syndrome  
  Sadler LS, Gingell R, Martin DJ, J Pediatr, 1/1/1998
• Subnormal binocular vision in the Williams syndrome  
  Olitsky SE, Sadler LS, Reynolds JD, J Pediatr Ophth and Strabismus, 1/1/1997
• Reduced stereoacuity in the Williams syndrome  
  Sadler LS, Olitsky SE, Reynolds JD, Am J Med Genet, 1/1/1996
• The diabetic embryopathy: possible pathogenesis  
  Sadler LS, Robinson LK, Msall ME, Am J Med Genet, 1/1/1995
• The chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family  
  Sadler LS, Robinson LK, Am J Med Genet, 1/1/1993
• The Williams syndrome: evidence for possible autosomal dominant inheritance  
  Sadler LS, Robinson LK, Gingell R, Verdaasdonk KR, Am J Med Genet, 1/1/1993
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Books/Book Chapters

• Current Pediatric Therapy 15 
  Chapter: Disorders of Porphyrin, Purine, and Pyrimidine Metabolism. 
  Page 374 - 376Sadler LS, Stapleton FBEditors: Burg FD, Ingelfinger JR, Wald ER, Polin RA.W.B. Saunders, Philadelphia, PA1996
• Essentials of Pharmacology 
  Chapter: Drug Induced Anomalies. 
  Page 615 - 619Robinson LK, Sadler LSEditors: Smith CM, Reynard AM.W.B. Saunders, Philadelphia, PA1995
• Craniofacial Anomalies: An Interdisciplinary Approach. 
  Chapter: Genetic Diagnosis: The Dysmorphology Examination. 
  Page 10 - 20Robinson LK, Sadler LSEditors: Brodsky L, Holt L, Ritter-Schmidt DH.Mosby Yearbook, St. Louis, MO1991

Abstracts/Posters

• 16p13.11 Duplication and deletion in a single family.
  Sadler LS, Tripi L, 30th Annual David W. Smith Workshop on Malformations and Morphogenesis, Philadelphia, PA, 1/6/2009
• Normal morphology and autistic Spectrum disorder in mosaic monosomy 21.
  Pinchasick A, Tripi L, Sadler L, 15th Annual Clinical Genetics Meeting, Phoenix, AZ, 1/12/2008
• Mood and anxiety disorders in patients with Williams syndrome and their families.
  King JC, Sadler LS, Kaye DL, AACAP Annual Meeting; 26th Annual David W. Smith Workshop on Malformations and Morphogenesis; AMSA Annual Convention, Arlington, VA, 2005; Iowa City, IA, 2005; Toronto, Ontario, Canada, 2005, 1/23/2005
• Severe mandibuloacral Dysplasia.
  Sadler LS, Brown WT, 23rd Annual David W. Smith Workshop on Malformations and Morphogenesis, Greenville, SC, 1/7/2002
• Gender differences in cardiovascular disease in Williams syndrome.
  Sadler LS, Pober BR, Scheiber D, Fekete G, Sharma AN, Grandinetti A, Urban Z, 21st Annual David W. Smith Workshop on Malformation and Morphogenesis, San Diego, CA, 1/2/2000
• Subnormal binocular vision in the Williams syndrome.
  Sadler LS, Olitsky SE, Reynolds JD, 45th Annual Meeting of the American Society of Human Genetics, Minneapolis, MN, 1/24/1995
• Anencephaly and laterality: a preliminary report.
  Robinson LK, Sadler LS, 15th Annual David W. Smith Workshop on Malformation and Morphogenesis, Tampa, FL, 1/4/1994
• Collagen analysis in a case of the Hallerman-Streiff syndrome: Insight into possible pathogenesis.
  Sadler LS, Robinson LK, Byers PH, 15th Annual David W. Smith Workshop on Malformation and Morphogenesis, Tampa, FL, 1/4/1994
• The body stalk anomaly: Report of a case, review of the literature, speculation on developmental pathogenesis.
  Robinson LK, Sadler LS, Mims OL, Donaldson GM, Siddiqui SY, 14th Annual David W. Smith Workshop on Malformation and Morphogenesis, Mont Tremblant, Quebec, Canada, 1/12/1993
• Distal digital hypoplasia in the Fetal Alcohol Syndrome.
  Sadler LS, Robinson LK, Gangell SL, Organization of Teratogen Information Services, San Diego, CA, 1/21/1992
• Ear length in African-American newborns with and without the Down syndrome.
  Sadler LS, Robinson LK, 13th Annual David W. Smith Workshop on Malformation and Morphogenesis, Winston-Salem, NC, 1/5/1992
• Further evidence of the mesodermal pathogenesis of the diabetic embryopathy.
  Sadler LS, Robinson LK, Msall ME, 12th Annual David W. Smith Workshop on Malformation and Morphogenesis, Lake Arrowhead, CA, 1/27/1991
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Lectures

• KIF5C mutations cause severe intellectual disability with or without cortical brain malformations. 
  St Michaels, MD - 1/14/2015
• Uniparental isodisomy for chromosome 1 in a patient with Noonan syndrome phenotype. 
  Mont-Tremblant, Quebec, Canada - 1/9/2013
• Carotid arterial dissection in an adult with Williams syndrome. 
  Lake Arrowhead, CA - 1/9/2011
• Community integration in Williams syndrome. 
  Dearborn, MI - 1/21/2000
• Carotid ultrasound examination in the Williams syndrome. 
  Philadelphia, PA, 1996; Lake Arrowhead, CA, 1996 - 1/26/1996
• Fetus-in-fetu: an included heteropagus conjoined twin. 
  Big Sky, MT - 1/30/1995
• Subnormal binocular vision in the Williams syndrome. 
  Buffalo, NY - 1/4/1995
• The chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family. 
  Winston-Salem, NC - 1/5/1992
• Laterality defects and myelodysplasia: implications for body asymmetry. 
  Lake Arrowhead, CA - 1/27/1991
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