ScottDouglasMcLeanMD

PubMed

• 1 citations
  Patterns of co-occurring birth defects in children with anotia and microtia.
  Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Daryl A Scott, Scott D McLean, Hope Northrup, Angela E Scheuerle, Christian P Schaaf, Joseph W ...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• 3 citations
  Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital ...
  Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K Bijlsma, Kristen M Wigby, Diana Baralle, Mohammad Y V Mehrjardi, J...> ;Genetics in Medicine. 2023 Jan 1
• 8 citations
  Primary neonatal herpes simplex virus pneumonia.
  James A. Barker, Scott D. Mclean, Glenn D. Jordan, Marvin S. Krober, James S. Rawlings> ;The Pediatric Infectious Disease Journal. 1990 Apr 1
• 92 citations
  Learning-disabled Males With a Fragile X CGG Expansion in the Upper Premutation Size Range
  Randi J Hagerman, Louise W. Staley, Rebecca O'Conner, Kellie A. Lugenbeel, David L. Nelson, Scott D. McLean, Annette K. Taylor> ;Pediatrics. 1996 Jan 1
• 28 citations
  Velo-cardio-facial syndrome : intrafamilial variability of the phenotype
  McLean Sd, Howard M. Saal, Nancy B. Spinner, Beverly S. Emanuel, D A Driscoll> ;American Journal of Diseases of Children. 1993 Nov 1
• Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8].
  Katherine L. Ludorf, Renata H. Benjamin, Maria Luisa Navarro Sanchez, Scott D. McLean, Hope Northrup, Laura E. Mitchell, Peter H. Langlois, Mark A. Canfield, Angela E....> ;Journal of Pediatric Urology. 2021 Jul 26
• 1 citations
  Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?
  Veronica Ortega, Raymond J. Louie, Melanie A. Jones, Alka Chaubey, Barbara R. DuPont, Allison D. Britt, Joseph W. Ray, Scott D. McLean, Rebecca O. Littlejohn, Gopalrao...> ;Molecular Cytogenetics. 2021 Jul 14
• 6 citations
  Birth defect co-occurrence patterns in the Texas Birth Defects Registry
  Renata H. Benjamin, Angela E. Scheuerle, Daryl A. Scott, Maria Luisa Navarro Sanchez, Peter H. Langlois, Mark A. Canfield, Hope Northrup, Christian P. Schaaf, Joseph W...> ;Pediatric Research. 2021 Jun 30
• 3 citations
  PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
  Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar, Shahnaz Ibrahim, Bushra Afroze, Mohammad Doosti...> ;Genetics in Medicine. 2021 Jun 10
• 6 citations
  Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
  Maria Luisa Navarro Sanchez, Renata H. Benjamin, Laura E. Mitchell, Peter H. Langlois, Mark A. Canfield, Michael D. Swartz, Angela E. Scheuerle, Daryl A. Scott, Hope N...> ;The Cleft Palate-Craniofacial Journal. 2021 Apr 28
• 2 citations
  Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
  Diego Diaz, Renata H. Benjamin, Maria Luisa Navarro Sanchez, Laura E. Mitchell, Peter H. Langlois, Mark A. Canfield, Han Chen, Angela E. Scheuerle, Christian P. Schaaf...> ;American Journal of Medical Genetics. Part A. 2021 Mar 22
• 3 citations
  A COMPREHENSIVE ASSESSMENT OF CO-OCCURRING BIRTH DEFECTS AMONG INFANTS WITH NON-SYNDROMIC ANOPHTHALMIA OR MICROPHTHALMIA
  Jeremy M. Schraw, Renata H. Benjamin, Daryl A. Scott, Brian P. Brooks, Robert B. Hufnagel, Scott D. McLean, Hope Northrup, Peter H. Langlois, Mark A. Canfield, Angela ...> ;Ophthalmic Epidemiology. 2021 Sep 3
• 2 citations
  Patterns of co-occurring birth defects among infants with hypospadias
  Katherine L. Ludorf, Renata H. Benjamin, Maria Luisa Navarro Sanchez, Scott D. McLean, Hope Northrup, Laura E. Mitchell, Peter H. Langlois, Mark A. Canfield, Angela E....> ;Journal of Pediatric Urology. 2021 Feb 1
• 7 citations
  Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
  Omobola O. Oluwafemi, Renata H. Benjamin, Maria Luisa Navarro Sanchez, Angela E. Scheuerle, Christian P. Schaaf, Laura E. Mitchell, Peter H. Langlois, Mark A. Canfield...> ;American Journal of Medical Genetics. Part A. 2020 Sep 4
• 14 citations
  Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO
  Maham Sewani, Kimberly Nugent, Patrick R. Blackburn, Jessica M. Tarnowski, Andres Hernandez-Garcia, Jeanne Amiel, Sandra Whalen, Boris Keren, Thomas Courtin, Jill A. R...> ;American Journal of Medical Genetics. Part A. 2020 Apr 1
• 12 citations
  Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.
  Renata H. Benjamin, Xiao Yu, Maria Luisa Navarro Sanchez, Han Chen, Laura E. Mitchell, Peter H. Langlois, Mark A. Canfield, Michael D. Swartz, Angela E. Scheuerle, Dar...> ;Birth Defects Research. 2019 Nov 1
• De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
  Megan L Harline, Kimberly M Nugent, Lynne M Bird, Katelyn Payne, Rebecca O Littlejohn, Scott McLean> ;Cell Press.
• 52 citations
  DNM1 encephalopathy A new disease of vesicle fission
  Sarah von Spiczak, Katherine L. Helbig, Deepali N. Shinde, Robert Huether, Manuela Pendziwiat, Charles Marques Lourenço, Mark E. Nunes, Dean P. Sarco, Richard A. Kapla...> ;Neurology. 2017 Jul 25
• 95 citations
  YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
  Michele Gabriele, Anneke T. Vulto-van Silfhout, Pierre-Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, An...> ;American Journal of Human Genetics. 2017 Jun 1
• De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
  Nathaniel H Robin, Scott D McLean, Christian P Schaaf, Rebecca O Littlejohn, Carlos A Bacino, Elena M Infante, Seema R Lalani, Christine M Eng, Daryl A Scott> ;Cell Press.
• 322 citations
  Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
  Pengfei Liu, Ayelet Erez, Sandesh C.S. Nagamani, Shweta U. Dhar, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, ...> ;Cell. 2011 Sep 16
• But is the platter really silver
  Scott D. McLean> ;Genetics in Medicine. 2010 Feb 1
• 69 citations
  Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function
  Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler, Kenia B. El-Jaick, Sabina Domené, Jorge I. Vélez, Nan Zhou, Donald W. Hadley, Joan Z. Balog, Robert Long, Alan...> ;Journal of Medical Genetics. 2009 Apr 2
• Join now to see all