AainaKochharMD

PubMed

• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
  Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delph...> ;Genetics in Medicine. 2023 Aug 1
• 119 citations
  Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
  David Dimmock, Sara A. Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John P. Cleary, Arthu...> ;American Journal of Human Genetics. 2021 Jul 1
• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 1 citations
  Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swobo...> ;Nature Communications. 2019 May 2
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Blok, L. S.,Rousseau, J.,Twist, J.,Ehresmann, S.,Takaku, M.,Venselaar, H.,Rodan, L. H.,Nowak, C. B.,Douglas, J.,Swoboda, K. J.,Steeves, M. A.,Sahai, I.,Stumpel, CTRM.,...> ;Nat Commun. 2019 Feb 17
• 60 citations
  CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
  Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine Nowak, Jessica Douglas, Kathryn J. Swobo...> ;Nature Communications. 2018 Nov 5
• 4 citations
  Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants
  Gretchen Kissel Foskett, Edgar G. Engleman, Jenna Klotz, Okmi Choi, Lorna L. Tolentino, Aaina Kochhar, Qian Zhou Yang, David A. Stevenson> ;Pediatric Neurology. 2018 Aug 1
• 113 citations
  Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
  Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
• 17 citations
  Similarity of geleophysic dysplasia and weill–marchesani syndrome
  Aaina Kochhar, Salman Kirmani, Frank Cetta, Brian R. Younge, James C. Hyland, Virginia V. Michels> ;American Journal of Medical Genetics. Part A. 2013 Dec 1
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