RhondaESchnurMD

PubMed

• 3 citations
  Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
  Michelle Adutwum, Anna Hurst, Ghayda Mirzaa, Jessica D Kushner, Caleb Rogers, Nahla Khalek, Ana G Cristancho, Natalie Burrill, Michael E Seifert, Maria I Scarano, Rhon...> ;Clinical Genetics. 2023 Jan 1
• 8 citations
  Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
  Elodie Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex M. Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia...> ;American Journal of Human Genetics. 2021 Oct 7
• 6 citations
  Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
  Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Jawid M Fatih, Jill V. Hunter, Isabella Herman, Davut Pehlivan, Sh...> ;Genetics in Medicine. 2021 Aug 12
• 32 citations
  Haploinsufficiency of SF3B2 causes craniofacial microsomia.
  Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J Doust, Amelia F. Drake, Milagros M. ...> ;Nature Communications. 2021 Aug 3
• 19 citations
  Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
  Gabriel C. Dworschak, Jaya Punetha, Jeshurun C Kalanithy, Enrico Mingardo, Haktan Bağış Erdem, Zeynep Coban Akdemir, Ender Karaca, Tadahiro Mitani, Dana Marafi, Jawid ...> ;Genetics in Medicine. 2021 May 30
• 8 citations
  UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
  Rhonda E. Schnur, Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble, Regina M. Zambrano, Nara Sobreira, Parul Jayakar, Mary Ella M Pierpont, Mat...> ;Genetics in Medicine. 2021 May 26
• 15 citations
  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
  Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verhe...> ;American Journal of Human Genetics. 2021 May 6
• 9 citations
  Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
  Renkui Bai, Hong Cui, Joseph M. Devaney, Katrina M. Allis, Amanda Balog, Xinyue Liu, Rhonda E. Schnur, Faye L. Shapiro, Ariel Brautbar, Juvianee I. Estrada-Veras, Laur...> ;Genetics in Medicine. 2021 Apr 12
• 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
• 7 citations
  CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
  Yuri A. Zarate, Tomoko Uehara, Kota Abe, Masayuki Oginuma, Sora Harako, Shizuka Ishitani, Anna-Elina Lehesjoki, Tatjana Bierhals, Katja Kloth, Nadja Ehmke, Denise Horn...> ;Genetics in Medicine. 2021 Jan 25
• 10 citations
  Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
  Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris M de Lange, Jasper J. van der Smagt, Golder N. Wilson, Holly Dubbs, Ethan M. Goldberg, Lia Zitano, ...> ;Genetics in Medicine. 2021 Jan 20
• 2 citations
  Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
  Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan H. Baugh, Amber Begtrup, Caleb Bupp, Bert Callewaert...> ;Genetics in Medicine. 2021 Feb 1
• 15 citations
  NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
  Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K. Chung, Rebecca Hernan, Fowzan S. Alkuraya, Ahood Alsulaima...> ;American Journal of Human Genetics. 2020 Nov 5
• 14 citations
  Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital a...
  Lot Snijders Blok, Arianna Vino, Joery den Hoed, Hunter R. Underhill, Danielle Monteil, Hong Li, Francis Jeshira Reynoso Santos, Wendy K. Chung, Michelle D. Amaral, Rh...> ;Genetics in Medicine. 2021 Mar 1
• 23 citations
  Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
  Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev, Yin Y Dong, Mary-Alice Abbott, C. G. Asteggiano, Michael J. Bamshad, Eileen Barr, Jonathan A. Bernstein, Shabeed Chela...> ;Journal of Inherited Metabolic Disease. 2020 Jul 18
• 9 citations
  De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
  Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah R Green, Koen L.I. van Gassen, ...> ;Genetics in Medicine. 2020 May 5
• 30 citations
  Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
  Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Wais...> ;The Journal of Clinical Investigation. 2020 Mar 2
• 17 citations
  Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
  Ash Zawerton, Cyril Mignot, Ashley N. Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabe...> ;Genetics in Medicine. 2020 Mar 1
• 6 citations
  ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
  Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Eva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Pa...> ;American Journal of Human Genetics. 2020 Jan 2
• 22 citations
  Rare SUZ12 variants commonly cause an overgrowth phenotype
  Sharri Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, KS Yeung, Brian H.Y. Chung, HM Luk, Nataliya Tkachenko, Sanaa Choufani, Rosanna Weksberg, E. Lopez-Rangel...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2019 Nov 17
• Erratum: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (Brain (2019) 142: 2617-2630) DOI: 10.1093/brain/awz198
  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 Nov 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
• 25 citations
  MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
  Sandra Donkervoort, Rasha Sabouny, Pomi Yun, Laurence Gauquelin, Katherine R. Chao, Ying Hu, I. Al Khatib, Ana Töpf, Payam Mohassel, Beryl B. Cummings, Rupleen Kaur, D...> ;Acta Neuropathologica. 2019 Aug 29
• 3 citations
  Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants.
  Laura Durão Ferreira, Rayssa L. Borges-Medeiros, Jenny Thies, Rhonda E. Schnur, Christina Lam, João Ricardo Mendes de Oliveira> ;American Journal of Medical Genetics. Part A. 2019 Jul 18
• 13 citations
  Variants in DOCK3 cause developmental delay and hypotonia
  Kimberly Wiltrout, Alejandro Ferrer, Ingrid M.B.H. van de Laar, Kazuhiko Namekata, Takayuki Harada, Eric W. Klee, Michael T. Zimmerman, Margot A. Cousin, Jennifer L. K...> ;European Journal of Human Genetics. 2019 Apr 11
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