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Author/Creator Lupski, James R.

1. 22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Issue 4 (22nd March 2017)

Authors:
Falah, Nadia; Posey, Jennifer E.; Thorson, Willa; Benke, Paul; Tekin, Mustafa; Tarshish, Brocha; Lupski, James R.; Harel, Tamar
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 4(2017)
Page Start:
1066
Record Type:
Journal Article
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2. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Issue 4 (13th February 2018)

Authors:
Dinckan, Nuriye; Du, Renqian; Akdemir, Zeynep C.; Bayram, Yavuz; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Boerwinkle, Eric; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Uyguner, Zehra O.; Letra, Ariadne
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 4(2018)
Page Start:
1015
Record Type:
Journal Article
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3. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Issue 3 (4th January 2023)

Authors:
Dawood, Moez; Akay, Gulsen; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Gezdirici, Alper; Najmabadi, Hossein; Kahrizi, Kimia; Punetha, Jaya; Grochowski, Christopher M.; Du, Haowei; Jolly, Angad; Li, He; Coban‐Akdemir, Zeynep; Sedlazeck, Fritz J.; Hunter, Jill V.; Jhangiani, Shalini N.; Muzny...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 3(2023)
Page Start:
794
Record Type:
Journal Article
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4. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Issue 9 (8th August 2018)

Authors:
Lumaka, Aimé; Race, Valerie; Peeters, Hilde; Corveleyn, Anniek; Coban‐Akdemir, Zeynep; Jhangiani, Shalini N.; Song, Xiaofei; Mubungu, Gerrye; Posey, Jennifer; Lupski, James R.; Vermeesch, Joris R.; Lukusa, Prosper; Devriendt, Koenraad
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
1897
Record Type:
Journal Article
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5. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Issue 2 (25th November 2019)

Authors:
Ngo, Kathie J.; Rexach, Jessica E.; Lee, Hane; Petty, Lauren E.; Perlman, Susan; Valera, Juliana M.; Deignan, Joshua L.; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep H.; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B.; Hassin‐Baer, Sharon; Po...
Journal:
Human mutation
Issue:
Volume 41:Issue 2(2020)
Page Start:
487
Record Type:
Journal Article
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6. A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo. Issue 1 (11th October 2012)

Authors:
Vester, Aimée; Velez‐Ruiz, Gisselle; McLaughlin, Heather M.; NISC Comparative Sequencing Program, ; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M.; Züchner, Stephan; Roda, Ricardo H.; Fischbeck, Kenneth H.; Biesecker, Leslie G.; Nicholson, Garth; Beg, Asim A.; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 34:Issue 1(2013:Jan.)
Page Start:
191
Record Type:
Journal Article
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7. A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy. Issue 7 (2nd April 2021)

Authors:
Duan, Ruizhi; Saadi, Nebal Waill; Grochowski, Christopher M.; Bhadila, Ghalia; Faridoun, Afnan; Mitani, Tadahiro; Du, Haowei; Fatih, Jawid M.; Jhangiani, Shalini N.; Akdemir, Zeynep C.; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Marafi, Dana; Lupski, James R.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
1972
Record Type:
Journal Article
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8. A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction. Issue 6 (17th September 2016)

Authors:
Sorte, Hanne S.; Osnes, Liv T.; Fevang, Børre; Aukrust, Pål; Erichsen, Hans C.; Backe, Paul H.; Abrahamsen, Tore G.; Kittang, Ole B.; Øverland, Torstein; Jhangiani, Shalini N.; Muzny, Donna M.; Vigeland, Magnus D.; Samarakoon, Pubudu; Gambin, Tomasz; Akdemir, Zeynep H. C.; Gibbs, Richard A.; Rødn...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 6(2016)
Page Start:
604
Record Type:
Journal Article
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9. A Recurrent Loss‐of‐Function Alanyl‐tRNA Synthetase (AARS) Mutation in Patients with Charcot‐Marie‐Tooth Disease Type 2N (CMT2N). Issue 4 (18th February 2014)

Authors:
McLaughlin, Heather M.; Sakaguchi, Reiko; Giblin, William; Wilson, Thomas E.; Biesecker, Leslie; Lupski, James R.; Talbot, Kevin; Vance, Jeffery M.; Züchner, Stephan; Lee, Yi‐Chung; Kennerson, Marina; Hou, Ya‐Ming; Nicholson, Garth; Antonellis, Anthony
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
512
Record Type:
Journal Article
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10. Back Cover, Volume 43, Issue 7. Issue 7 (8th June 2022)

Authors:
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Caldas Rosa, Erica C.C.; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet...
Journal:
Human mutation
Issue:
Volume 43:Issue 7(2022)
Page Start:
ii
Record Type:
Journal Article
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