JosephShenMDPhD

PubMed

• 10 citations
  CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic var...
  Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster, Joseph J. Shen> ;BMC Medical Genomics. 2021 Jul 15
• Response to Biesecker et al.
  Joseph J. Shen, Saskia B. Wortmann, Leo A. J. Kluijtmans, Christin D. Collins, Robin van der Lee, Clara D.M. van Karnebeek, Madhuri R Hegde> ;Genetics in Medicine. 2021 Jan 8
• 3 citations
  A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.
  Joseph J. Shen, Jessica L. Davis, Xinying Hong, Fred H. Laningham, Michael H. Gelb, Grace E. Kim> ;Journal of Pediatric Gastroenterology and Nutrition. 2020 Dec 1
• 15 citations
  The role of clinical response to treatment in determining pathogenicity of genomic variants
  Joseph J. Shen, Saskia B. Wortmann, Lonneke de Boer, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Johannes Koch, Stephanie Ross, Christin D. Collins, Robin van der L...> ;Genetics in Medicine. 2021 Mar 1
• 57 citations
  A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
  Ingo Helbig, Tania López-Hernández, Oded Shor, Peter D. Galer, Shiva Ganesan, Manuela Pendziwiat, Annika Rademacher, Colin A Ellis, Nadja Hümpfer, Niklas Schwarz, Simo...> ;American Journal of Human Genetics. 2019 Jun 6
• 4 citations
  Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca—One Center’s Experience with Two Immigrant Farmworker Families in the Centra...
  Joseph J. Shen, Jason Carmichael, Leoncio Vásquez Santos> ;Journal of Genetic Counseling. 2018 Feb 3
• 76 citations
  Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration
  Wan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Nele A Haelterman, Nagireddy Putluri, Vasanta Putluri, Arun Sreekumar, Tulay To...> ;Neuron. 2017 Jan 4
• 24 citations
  BRAT1-related disease--identification of a patient without early lethality.
  Sheraden A. Mundy, Bryan L. Krock, Rong Mao, Joseph J. Shen> ;American Journal of Medical Genetics. Part A. 2016 Mar 1
• 3 citations
  An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
  Rina Kansal, Xinmin Li, Joseph J. Shen, David Samuel, Fred H. Laningham, Hane Lee, Gagan B. Panigrahi, Andrew Y. Shuen, Sibel Kantarci, Naghmeh Dorrani, Jean Reiss, Pe...> ;Genes, Chromosomes & Cancer. 2016 Feb 1
• 39 citations
  Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility
  Jia-Chi Wang, Leslie Ross, Loretta W Mahon, Renius Owen, Morteza Hemmat, Boris T Wang, Mohammed El Naggar, Kimberly A Kopita, Linda M. Randolph, John Chase, Maria J. M...> ;European Journal of Human Genetics. 2015 May 1
• 6 citations
  Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.
  Joseph J. Shen> ;Clinical Dysmorphology. 2015 Apr 1
• 5 citations
  Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
  Cas Simons, Lachlan D. Rash, Joanna Crawford, Linlin Ma, Ben Cristofori-Armstrong, David Miller, Kelin Ru, Gregory J. Baillie, Yasemin Alanay, Adeline Jacquinet, Franç...> ;Nature Genetics. 2015 Mar 1
• 200 citations
  TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis
  Nan Wu, Ming X, Xiao J, Z. Wu, Xiaoli Chen, Marwan Shinawi, Shen Y, Yu G, Jiaqi Liu, Xie H, Zoran Gucev, S. B. Liu, Yang N, Hussam Al-Kateb, Chen J, Zhang J, Natalie H...> ;The New England Journal of Medicine. 2015 Jan 21
• 104 citations
  Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
  Cas Simons, Lachlan D. Rash, Joanna Crawford, Linlin Ma, Ben Cristofori-Armstrong, David Miller, Kelin Ru, Gregory J. Baillie, Yasemin Alanay, Adeline Jacquinet, Franç...> ;Nature Genetics. 2015 Jan 1
• 25 citations
  Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, o...
  Douglas R. Stewart, Hilde Brems, Alicia G. Gomes, Sarah L. Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes, Michael B. Bober, Rachel Hachen, Leonard B. Kaban, ...> ;Genetics in Medicine. 2014 Jun 1
• 35 citations
  Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement
  Hussam Al-Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph J. Shen, Christopher D. Smyser, Shashikant Kulkarni, Marwan Shinawi> ;American Journal of Medical Genetics. Part A. 2014 May 1
• 27 citations
  Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
  Claudia M.B. Carvalho, Magdalena Bartnik, Davut Pehlivan, Ping Fang, Joseph J. Shen, James R. Lupski> ;Clinical Genetics. 2012 Jun 1
• 363 citations
  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
  Marwan Shinawi, Pengfei Liu, Sung Hae L. Kang, Joseph J. Shen, John W. Belmont, Daryl A. Scott, Frank J. Probst, William J. Craigen, Brett H. Graham, Amber Pursley, Ga...> ;Journal of Medical Genetics. 2010 May 1
• 102 citations
  Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
  Sandesh C.S. Nagamani, Ayelet Erez, Joseph J. Shen, Chumei Li, Elizabeth Roeder, Sarah Cox, Lefkothea P. Karaviti, Margret Pearson, Sung-Hae L. Kang, Trilochan Sahoo, ...> ;European Journal of Human Genetics. 2010 Mar 1
• 79 citations
  Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects
  Ayman W. El-Hattab, Fangyuan Li, Joseph J. Shen, Berkley R. Powell, Erawati V. Bawle, Darius J. Adams, Erica Wahl, Joyce A. Kobori, Brett H. Graham, Fernando Scaglia, ...> ;Genetics in Medicine. 2010 Jan 1
• 42 citations
  Activin Signaling: Effects on Body Composition and Mitochondrial Energy Metabolism
  Liunan Li, Joseph J. Shen, Juan C. Bournat, Lihua Huang, Abanti Chattopadhyay, Zhihong Li, Chad A. Shaw, Brett H. Graham, Chester W. Brown> ;Endocrinology. 2009 Aug 1
• 42 citations
  Deficiency of Growth Differentiation Factor 3 Protects against Diet-Induced Obesity by Selectively Acting on White Adipose
  Joseph J. Shen, Lihua Huang, Liunan Li, Carolina J. Jorgez, Martin M. Matzuk, Chester W. Brown> ;Molecular Endocrinology. 2009 Jan 1
• 429 citations
  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
  Nicola Brunetti-Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan S...> ;Nature Genetics. 2008 Dec 1
• 39 citations
  Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficie...
  Naohiro Kurotaki, Joseph J. Shen, Mayumi Touyama, Tatsuro Kondoh, Remco Visser, Takao Ozaki, Junji Nishimoto, Takashi Shiihara, Kimiaki Uetake, Yoshio Makita, Naoki Ha...> ;Genetics in Medicine. 2005 Sep 1
• 28 citations
  Terminal Deletion of Chromosome 15q26.1: Case Report and Brief Literature Review
  Kushal Y. Bhakta, Sarah J Marlin, Joseph J. Shen, Caraciolo J. Fernandes> ;Journal of Perinatology. 2005 Jun 1
• Join now to see all