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Author/Creator Grochowski, Christopher M.

1. 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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2. 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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3. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

Authors:
Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E...
Journal:
Annals of neurology
Issue:
Volume 92:Issue 2(2022)
Page Start:
304
Record Type:
Journal Article
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5. Compound heterozygous mutations in NEK8 in siblings with end‐stage renal disease with hepatic and cardiac anomalies. Issue 3 (24th December 2015)

Authors:
Rajagopalan, Ramakrishnan; Grochowski, Christopher M.; Gilbert, Melissa A.; Falsey, Alexandra M.; Coleman, Karlene; Romero, Rene; Loomes, Kathleen M.; Piccoli, David A.; Devoto, Marcella; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 3(2016)
Page Start:
750
Record Type:
Journal Article
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6. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Issue 11 (1st October 2020)

Authors:
Pettersson, Maria; Grochowski, Christopher M.; Wincent, Josephine; Eisfeldt, Jesper; Breman, Amy M.; Cheung, Sau W.; Krepischi, Ana C. V.; Rosenberg, Carla; Lupski, James R.; Ottosson, Jesper; Lovmar, Lovisa; Gacic, Jelena; Lundberg, Elisabeth S.; Nilsson, Daniel; Carvalho, Claudia M. B.; Lindstr...
Journal:
Human mutation
Issue:
Volume 41:Issue 11(2020)
Page Start:
1979
Record Type:
Journal Article
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7. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Issue 8 (25th June 2022)

Authors:
Penon‐Portmann, Monica; Eldomery, Mohammad K.; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E.; Coban‐Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M.; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R.; Shieh, Joseph T.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 8(2022)
Page Start:
2360
Record Type:
Journal Article
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8. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors. Issue 2 (13th October 2015)

Authors:
Izumi, Kosuke; Hayashi, Daisuke; Grochowski, Christopher M.; Kubota, Noriko; Nishi, Eriko; Arakawa, Michiko; Hiroma, Takehiko; Hatata, Tomoko; Ogiso, Yoshifumi; Nakamura, Tomohiko; Falsey, Alexandra M.; Hidaka, Eiko; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 2(2016)
Page Start:
471
Record Type:
Journal Article
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9. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome. (3rd March 2015)

Authors:
Grochowski, Christopher M.; Rajagopalan, Ramakrishnan; Falsey, Alexandra M.; Loomes, Kathleen M.; Piccoli, David A.; Krantz, Ian D.; Devoto, Marcella; Spinner, Nancy B.
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 4(2015:Apr.)
Page Start:
891
Record Type:
Journal Article
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10. Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia. Issue 6 (21st April 2015)

Authors:
Tsai, Ellen A.; Grochowski, Christopher M.; Falsey, Alexandra M.; Rajagopalan, Ramakrishnan; Wendel, Danielle; Devoto, Marcella; Krantz, Ian D.; Loomes, Kathleen M.; Spinner, Nancy B.
Journal:
Human mutation
Issue:
Volume 36:Issue 6(2015:Jun.)
Page Start:
631
Record Type:
Journal Article
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