Maki Fukami (M Fukami)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 72

Top Topics

Polycystic Ovary Syndrome

Top Venues

Journal of human genetics

Human genome variation

Reproductive medicine and biology

Nature genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, Kenichi Miyako, Yukihiro Hasegawa, Yoshihiro Maruo, Koji Muroya, Natsuko Watanabe, Eijun Nishihara, Yuka Ito, Takahiko Kogai, Kaori Kameyama, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Hirohito Shima, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Tomonobu Hasegawa
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics 56 (5) (2024)
Yuki Muranishi, Yoshitomo Kobori, Yuko Katoh-Fukui, Satoshi Tamaoka, Atsushi Hattori, Akiyoshi Osaka, Hiroshi Okada, Kazuhiko Nakabayashi, Kenichiro Hata, Tomoko Kawai, Hiroko Ogata-Kawata, Toshiyuki Iwahata, Kazuki Saito, Masafumi Kon, Nobuo Shinohara, Maki Fukami
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia. Human reproduction (Oxford, England) (2024)
Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura
Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature. Human genome variation 11 (1) (2024)
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, Kenichi Miyako, Yukihiro Hasegawa, Yoshihiro Maruo, Koji Muroya, Natsuko Watanabe, Eijun Nishihara, Yuka Ito, Takahiko Kogai, Kaori Kameyama, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Hirohito Shima, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Tomonobu Hasegawa
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics 56 (5) (2024)
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, Kenichi Miyako, Yukihiro Hasegawa, Yoshihiro Maruo, Koji Muroya, Natsuko Watanabe, Eijun Nishihara, Yuka Ito, Takahiko Kogai, Kaori Kameyama, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Hirohito Shima, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Tomonobu Hasegawa
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics 56 (5) (2024)
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, Kenichi Miyako, Yukihiro Hasegawa, Yoshihiro Maruo, Koji Muroya, Natsuko Watanabe, Eijun Nishihara, Yuka Ito, Takahiko Kogai, Kaori Kameyama, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Hirohito Shima, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Tomonobu Hasegawa
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics (2024)
Yuki Muranishi, Yoshitomo Kobori, Yuko Katoh-Fukui, Satoshi Tamaoka, Atsushi Hattori, Akiyoshi Osaka, Hiroshi Okada, Kazuhiko Nakabayashi, Kenichiro Hata, Tomoko Kawai, Hiroko Ogata-Kawata, Toshiyuki Iwahata, Kazuki Saito, Masafumi Kon, Nobuo Shinohara, Maki Fukami
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia. Human reproduction (Oxford, England) 39 (5) (2024)
Tsutomu Ogata, Atsushi Hattori, Maki Fukami
SHOX and sex difference in height: a hypothesis. Endocrine journal (2024)
Satoshi Narumi, Keisuke Nagasaki, Mitsuo Kiriya, Erika Uehara, Kazuhisa Akiba, Kanako Tanase-Nakao, Kazuhiro Shimura, Kiyomi Abe, Chiho Sugisawa, Tomohiro Ishii, Kenichi Miyako, Yukihiro Hasegawa, Yoshihiro Maruo, Koji Muroya, Natsuko Watanabe, Eijun Nishihara, Yuka Ito, Takahiko Kogai, Kaori Kameyama, Kazuhiko Nakabayashi, Kenichiro Hata, Maki Fukami, Hirohito Shima, Atsuo Kikuchi, Jun Takayama, Gen Tamiya, Tomonobu Hasegawa
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities. Nature genetics 56 (5) (2024)
Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura
Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature. Human genome variation 11 (1) (2024)
Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura
Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature. Human genome variation 11 (1) (2024)
Atsushi Hattori, Maki Fukami
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development. Biomolecules 13 (4) (2023)
Tomoko Yoshida, Keiko Matsubara, Hiroko Ogata-Kawata, Mami Miyado, Keisuke Ishiwata, Kazuhiko Nakabayashi, Kenichiro Hata, Ikuko Kageyama, Satoshi Tamaoka, Yukiko Shimada, Maki Fukami, Shoko Sasaki
Variations in gender identity and sexual orientation of university students. Sexual medicine 11 (5) (2023)
Satoshi Tamaoka, Kazuki Saito, Tomoko Yoshida, Kazuhiko Nakabayashi, Kenichi Tatsumi, Toshihiro Kawamura, Toshiya Matsuzaki, Keiko Matsubara, Hiroko Ogata-Kawata, Kenichiro Hata, Yuko Kato-Fukui, Maki Fukami
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome. Reproductive medicine and biology 22 (1) (2023)
Atsushi Hattori, Maki Fukami
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development. Biomolecules 13 (4) (2023)
Noriyuki Azuma, Tadashi Yokoi, Taku Tanaka, Emiko Matsuzaka, Yuki Saida, Sachiko Nishina, Miho Terao, Shuji Takada, Maki Fukami, Kohji Okamura, Kayoko Maehara, Tokiwa Yamasaki, Jun Hirayama, Hiroshi Nishina, Hiroshi Handa, Yuki Yamaguchi
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development. Human molecular genetics (2023)
Satoshi Tamaoka, Akinari Fukuda, Kazuhiko Nakabayashi, Keiko Matsubara, Hiroko Ogata-Kawata, Yuki Muranishi, Kenichiro Hata, Yuko Kato-Fukui, Seisuke Sakamoto, Mureo Kasahara, Maki Fukami
Rare sequence variants associated with the risk of non-syndromic biliary atresia. Hepatology research : the official journal of the Japan Society of Hepatology (2023)
Erina Suzuki, Mami Miyado, Yoko Kuroki, Maki Fukami
Genetic variants of G-protein coupled receptors associated with pubertal disorders. Reproductive medicine and biology 22 (1) (2023)
Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta
A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene. Human genome variation 10 (1) (2023)
Tatsuki Urakawa, Shinichiro Sano, Sayaka Kawashima, Akie Nakamura, Hirohito Shima, Motoki Ohta, Yuki Yamada, Ai Nishida, Hiromune Narusawa, Yoshiaki Ohtsu, Keiko Matsubara, Sumito Dateki, Yoshihiro Maruo, Maki Fukami, Tsutomu Ogata, Masayo Kagami
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B. European journal of endocrinology (2023)
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, Keisuke Miyako, Masaki Takazawa, Hideo Sasai, Junichi Hosokawa, Sakae Itoga, Tomomi Yamaguchi, Tomoki Kosho, Keiko Matsubara, Yoko Kuroki, Maki Fukami, Kaori Adachi, Eiji Nanba, Naomi Tsuchida, Yuri Uchiyama, Naomichi Matsumoto, Kunihiro Nishimura, Osamu Ohara
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing. Nucleic acids research (2023)
Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1 -Related Retinal Dystrophy in Japanese Patients. International journal of molecular sciences 24 (18) (2023)
Atsushi Hattori, Maki Fukami
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development. Biomolecules 13 (4) (2023)
Satoshi Tamaoka, Kazuki Saito, Tomoko Yoshida, Kazuhiko Nakabayashi, Kenichi Tatsumi, Toshihiro Kawamura, Toshiya Matsuzaki, Keiko Matsubara, Hiroko Ogata-Kawata, Kenichiro Hata, Yuko Kato-Fukui, Maki Fukami
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome. Reproductive medicine and biology 22 (1) (2023)
Erina Suzuki, Mami Miyado, Yoko Kuroki, Maki Fukami
Genetic variants of G-protein coupled receptors associated with pubertal disorders. Reproductive medicine and biology 22 (1) (2023)
Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Hara-Isono, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. Journal of human genetics 67 (10) (2022)
Yohei Masunaga, Yumiko Ohkubo, Gen Nishimura, Taizo Ueno, Yasuko Fujisawa, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
ACAN biallelic variants in a girl with severe idiopathic short stature. Journal of human genetics 67 (8) (2022)
Maki Fukami, Mami Miyado
Mosaic loss of the Y chromosome and men's health. Reproductive medicine and biology 21 (1) (2022)
Kazuhisa Akiba, Yukihiro Hasegawa, Yuko Katoh-Fukui, Miho Terao, Shuji Takada, Tomonobu Hasegawa, Maki Fukami, Satoshi Narumi
POU1F1/Pou1f1 c.143-83A > G variant disrupts the branch site in pre-mRNA and leads dwarfism. Endocrinology (2022)
Kaori Hara-Isono, Akie Nakamura, Tomoko Fuke, Takanobu Inoue, Sayaka Kawashima, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders. The Journal of clinical endocrinology and metabolism 107 (8) (2022)
Kaori Yamoto, Satoshi Okada, Fumiko Kato, Yasuko Fujisawa, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. American journal of medical genetics. Part A 188 (5) (2022)
Maki Fukami, Junya Shindo, Tsutomu Ogata, Ikuko Kageyama, Tsutomu Kamimaki
SHOX far-downstream deletion in a patient with nonsyndromic short stature. American journal of medical genetics. Part A 188 (7) (2022)
Yasuko Fujisawa, Hiroyuki Ono, Alu Konno, Ikuko Yao, Hiroaki Itoh, Takashi Baba, Kenichirou Morohashi, Yuko Katoh-Fukui, Mami Miyado, Maki Fukami, Tsutomu Ogata
Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the Mouse. Journal of the Endocrine Society 6 (4) (2022)
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. Human genome variation 9 (1) (2022)
Takuya Hiraide, Yohei Masunaga, Akira Honda, Fumiko Kato, Tokiko Fukuda, Maki Fukami, Mitsuko Nakashima, Hirotomo Saitsu, Tsutomu Ogata
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. Journal of human genetics 67 (5) (2022)
Kikumi Ushijima, Yuya Ogawa, Miho Terao, Yumi Asakura, Koji Muroya, Mie Hayashi, Tomohiro Ishii, Tomonobu Hasegawa, Ryohei Sekido, Maki Fukami, Shuji Takada, Satoshi Narumi
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development. American journal of medical genetics. Part A 185 (4) (2021)
Kazuhisa Akiba, Yuko Katoh-Fukui, Kei Yoshida, Satoshi Narumi, Mami Miyado, Yukihiro Hasegawa, Maki Fukami
Role of Liquid-Liquid Separation in Endocrine and Living Cells. Journal of the Endocrine Society 5 (10) (2021)
Tomoko Yoshida, Kenji Matsumoto, Mami Miyado, Yoshimichi Miyashiro, Haruhiko Sago, Reiko Horikawa, Maki Fukami
Quantification of androgens and their precursors in full-term human placenta. European journal of endocrinology 185 (5) (2021)
Hirohito Shima, Etsuro Tokuhiro, Shingo Okamoto, Mariko Nagamori, Tsutomu Ogata, Satoshi Narumi, Akie Nakamura, Yoko Izumi, Tomoko Jinno, Erina Suzuki, Maki Fukami
SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome. Journal of the Endocrine Society 5 (7) (2021)
Maki Igarashi, Tadayuki Ayabe, Kiwako Yamamoto-Hanada, Keiko Matsubara, Hatoko Sasaki, Mayako Saito-Abe, Miori Sato, Nathan Mise, Akihiko Ikegami, Masayuki Shimono, Reiko Suga, Shouichi Ohga, Masafumi Sanefuji, Masako Oda, Hiroshi Mitsubuchi, Takehiro Michikawa, Shin Yamazaki, Shoji Nakayama, Yukihiro Ohya, Maki Fukami
Female-dominant estrogen production in healthy children before adrenarche. Endocrine connections 10 (10) (2021)
Kaori Hara-Isono, Keiko Matsubara, Riku Hamada, Shun Shimada, Tomomi Yamaguchi, Keiko Wakui, Osamu Miyazaki, Koji Muroya, Kenji Kurosawa, Maki Fukami, Tsutomu Ogata, Tomoki Kosho, Masayo Kagami
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2. Journal of human genetics 66 (11) (2021)
Sachiko Nishina, Katsuhiro Hosono, Shizuka Ishitani, Kenjiro Kosaki, Tadashi Yokoi, Tomoyo Yoshida, Kaoru Tomita, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata, Tohru Ishitani, Yoshihiro Hotta, Noriyuki Azuma
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. Journal of human genetics 66 (10) (2021)
Satoshi Tamaoka, Erina Suzuki, Atsushi Hattori, Tsutomu Ogata, Maki Fukami, Yuko Katoh-Fukui
NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism. Human genome variation 8 (1) (2021)
Yasuko Ogiwara, Mami Miyado, Erina Suzuki, Sumpei Niida, Kouichi Ozaki, Maki Fukami
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification. Journal of human genetics 66 (12) (2021)
Sayaka Kawashima, Hiroko Yagi, Yasuhiro Hirano, Machiko Toki, Kei Izumi, Sumito Dateki, Noriyuki Namba, Tsutomu Kamimaki, Koji Muroya, Toshiaki Tanaka, Maki Fukami, Masayo Kagami, null null
Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature. Journal of pediatric endocrinology & metabolism : JPEM 33 (10) (2020)
Jessica Omark, Yohei Masunaga, Mark Hannibal, Brandon Shaw, Maki Fukami, Fumiko Kato, Hirotomo Saitsu, Masayo Kagami, Tsutomu Ogata
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. Journal of human genetics 66 (4) (2020)
Muhammad Nazmul Haque, Masafumi Ohtsubo, Sachiko Nishina, Shiro Nakao, Kazue Yoshida, Katsuhiro Hosono, Kentaro Kurata, Kentaro Ohishi, Maki Fukami, Miho Sato, Yoshihiro Hotta, Noriyuki Azuma, Shinsei Minoshima
Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism. Journal of human genetics 66 (2) (2020)
Kenichi Kinjo, Tomoko Yoshida, Yoshitomo Kobori, Hiroshi Okada, Erina Suzuki, Tsutomu Ogata, Mami Miyado, Maki Fukami
Random X chromosome inactivation in patients with Klinefelter syndrome. Molecular and cellular pediatrics 7 (1) (2020)
Kazuhisa Akiba, Satoshi Narumi, Riko Nishimura, Yuko Kato-Fukui, Shuji Takada, Yukihiro Hasegawa, Maki Fukami
SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins. Molecular reproduction and development 87 (11) (2020)
K Ushijima, M Okuno, T Ayabe, N Kikuchi, T Kawamura, T Urakami, I Yokota, S Amemiya, T Uchiyama, T Kikuchi, T Ogata, S Sugihara, Maki Fukami, null null
Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes. Diabetic medicine : a journal of the British Diabetic Association 37 (12) (2020)
Erina Suzuki, Yoshitomo Kobori, Momori Katsumi, Kikumi Ushijima, Toru Uchiyama, Hiroshi Okada, Mami Miyado, Maki Fukami
Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y. Reproductive medicine and biology 19 (2) (2020)
Satoko Umino, Miyuki Kitamura, Yuko Katoh-Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism. Molecular genetics & genomic medicine 7 (6) (2019)
Daisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, Hirotomo Saitsu, Maki Fukami, Gen Nishimura, Tsutomu Ogata
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation. Journal of human genetics 64 (10) (2019)
Erina Suzuki, Hirohito Shima, Masayo Kagami, Shun Soneda, Toshiaki Tanaka, Shuichi Yatsuga, Junko Nishioka, Yuji Oto, Toshiya Kamiya, Yasuhiro Naiki, Tsutomu Ogata, Yasuko Fujisawa, Akie Nakamura, Sayaka Kawashima, Shuntaro Morikawa, Reiko Horikawa, Shinichiro Sano, Maki Fukami
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. Human genome variation 6 (2019)
Kenichiro Ogushi, Koji Muroya, Hirohito Shima, Tomoko Jinno, Mami Miyado, Maki Fukami
SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis. American journal of medical genetics. Part A 179 (9) (2019)
Kikumi Ushijima, Satoshi Narumi, Tsutomu Ogata, Ichiro Yokota, Shigetaka Sugihara, Tadashi Kaname, Yukio Horikawa, Yoichi Matsubara, Maki Fukami, Tomoyuki Kawamura, null null
KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. Pediatric diabetes 20 (6) (2019)
Atsushi Hattori, Kohji Okamura, Yumiko Terada, Rika Tanaka, Yuko Katoh-Fukui, Yoichi Matsubara, Keiko Matsubara, Masayo Kagami, Reiko Horikawa, Maki Fukami
Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells. BMC medical genomics 12 (1) (2019)
Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, Rika Kosaki, Shinichiro Takayama, Nobuhiko Haga, Hidefumi Tonoki, Akihisa Okumura, Emiko Horii, Nobuhiko Okamoto, Hiroshi Suzumura, Shiro Ikegawa, Fumiko Kato, Yasuko Fujisawa, Eiko Nagata, Shuji Takada, Maki Fukami, Tsutomu Ogata
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). European journal of human genetics : EJHG 27 (12) (2019)
Masanori Adachi, Maki Fukami, Masayo Kagami, Noriko Sho, Yuichiro Yamazaki, Yukichi Tanaka, Yumi Asakura, Junko Hanakawa, Koji Muroya
Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. Journal of pediatric endocrinology & metabolism : JPEM 32 (2) (2019)
Akira Ohishi, Yohei Masunaga, Shigeo Iijima, Kaori Yamoto, Fumiko Kato, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. Journal of human genetics 65 (2) (2019)
K Akiba, K Ushijima, Maki Fukami, Y Hasegawa
A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated and adult-onset diabetes. Diabetic medicine : a journal of the British Diabetic Association 37 (10) (2019)
Marie Mitani, Hirohito Shima, Takeshi Sato, Tomohiro Inoguchi, Tsutomu Kamimaki, Maki Fukami, Tomonobu Hasegawa
A case report and literature review of monoallelic mutation of GHR. Journal of pediatric endocrinology & metabolism : JPEM 32 (4) (2019)
Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara, Maki Fukami
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. Human genome variation 5 (2018)
Hiroyuki Ono, Hirotomo Saitsu, Reiko Horikawa, Shinichi Nakashima, Yumiko Ohkubo, Kumiko Yanagi, Kazuhiko Nakabayashi, Maki Fukami, Yasuko Fujisawa, Tsutomu Ogata
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene. Scientific reports 8 (1) (2018)
Shigeru Nakamura, Yoshitomo Kobori, Yoshihiko Ueda, Yoko Tanaka, Hiromichi Ishikawa, Atsumi Yoshida, Momori Katsumi, Kazuki Saito, Akie Nakamura, Tsutomu Ogata, Hiroshi Okada, Hideo Nakai, Mami Miyado, Maki Fukami
STX2 is a causative gene for nonobstructive azoospermia. Human mutation 39 (6) (2018)
S Nakamura, M Miyado, K Saito, M Katsumi, A Nakamura, Y Kobori, Y Tanaka, H Ishikawa, A Yoshida, H Okada, K Hata, K Nakabayashi, K Okamura, H Ogata, Y Matsubara, T Ogata, H Nakai, Maki Fukami
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. Andrology 5 (4) (2018)
M Okuno, T Ayabe, I Yokota, Ikuma Musha, K Shiga, T Kikuchi, N Kikuchi, A Ohtake, A Nakamura, K Nakabayashi, K Okamura, Y Momozawa, M Kubo, J Suzuki, T Urakami, T Kawamura, S Amemiya, T Ogata, S Sugihara, Maki Fukami, null null
Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes. Diabetic medicine : a journal of the British Diabetic Association 35 (3) (2018)
Katsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, Satoshi Katagiri, Hirotomo Saitsu, Kentaro Kurata, Daisuke Miyamichi, Akiko Hikoya, Kei Mizobuchi, Tadashi Nakano, Shinsei Minoshima, Maki Fukami, Hiroyuki Kondo, Miho Sato, Takaaki Hayashi, Noriyuki Azuma, Yoshihiro Hotta
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Scientific reports 8 (1) (2018)
Antonino Montalbano, Lonny Juergensen, Maki Fukami, Christian T Thiel, Nadine H Hauer, Ralph Roeth, Birgit Weiss, Yasuhiro Naiki, Tsutomu Ogata, David Hassel, Gudrun A Rappold
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. European journal of human genetics : EJHG 26 (8) (2018)
Maki Fukami, Erina Suzuki, Yoko Izumi, Tomohiro Torii, Satoshi Narumi, Maki Igarashi, Mami Miyado, Momori Katsumi, Yasuko Fujisawa, Kazuhiko Nakabayashi, Kenichiro Hata, Akihiro Umezawa, Yoichi Matsubara, Junji Yamauchi, Tsutomu Ogata
Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty. Journal of cellular and molecular medicine 21 (10) (2017)
Maki Fukami, Erina Suzuki, Maki Igarashi, Mami Miyado, Tsutomu Ogata
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders. Clinical endocrinology 88 (3) (2017)
Maki Fukami, Mami Miyado
Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders. Annals of pediatric endocrinology & metabolism 22 (2) (2017)